TableS1.Well-characterizedinbornerrorsofmetabolism.Group/NameofIEM Alternativenames Inheritance Gene OMIMgene

numberA.DISORDERSOFNITROGEN-CONTAININGCOMPOUNDS

1.DisordersofpyrimidinemetabolismCADtrifunctionalproteindeficiency AR CAD 114010Dihydroorotatedehydrogenasedeficiency Postaxialacrofacialdysostosis;Millersyndrome;

Genée–WiedemannsyndromeAR DHODH 126064

Uridinemonophosphatesynthasedeficiency

Hereditaryoroticaciduria AR UMPS 613891

Cytosolicpyrimidine5’-nucleotidasedeficiency

Uridine5’-monophosphatehydrolase1deficiency AR NT5C3A 606224

dUTPpyrophosphatasedeficiency AR DUT 601266Seealso:Dihydropyrimidinedehydrogenase,dihydropyrimidinase,andβ-ureidopropionasedeficienciesingroup17,andthymidinephosphorylasedeficiencyingroup69.2.DisordersofpurinemetabolismPhosphoribosylpyrophosphatesynthetasesuperactivity

XLR PRPS1 311850

Phosphoribosylpyrophosphatesynthetasedeficiency

Artssyndrome(severe);X-linkedCharcot-Marie-Toothdiseasetype5(intermediate);X-linkeddeafnesstype1(milder)

XLR PRPS1 311850

Adenylosuccinatelyasedeficiency AR ADSL 608222Muscleadenosinemonophosphatedeaminase1deficiency

Myoadenylatedeaminasedeficiency AR AMPD1 102770

Adenosinemonophosphatedeaminase2deficiency

Pontocerebellarhypoplasiatype9(severe);autosomalrecessivespasticparaplegiatype63(milder)

AR AMPD2 102771

Erythrocyteadenosinemonophosphatedeaminase3deficiency

AR AMPD3 102772

Adenosinedeaminase1deficiency AR ADA 608958Adenosinedeaminase2deficiency AR ADA2 607575Purinenucleosidephosphorylasedeficiency

AR PNP 164050

Xanthineoxidasedeficiency Xanthinuriatype1 AR XDH 607633

Hypoxanthineguaninephosphoribosyltransferasedeficiency

Lesch-Nyhansyndrome(severe);Kelley-Seegmillersyndrome(milder)

XLR HPRT1 308000

Adeninephosphoribosyltransferasedeficiency

AR APRT 102600

Adenylatekinase1deficiency AR AK1 103000Adenylatekinase2deficiency Reticulardysgenesis AR AK2 103020Inosine-5'-monophosphatedehydrogenasedeficiency

Retinitispigmentosatype10;Lebercongenitalamaurosistype11

AD IMPDH1 146690

Thiopurinemethyltransferasedeficiency AR TPMT 187680Inosinetriphosphatasedeficiency Earlyinfantileepilepticencephalopathytype35 AR ITPA 147520Uratetransporter1deficiency Hereditaryrenalhypouricemiatype1 AR SLC22A12 607096Uratevoltage-driveneffluxtransporter1deficiency

Hereditaryrenalhypouricemiatype2 AR SLC2A9 606142

Seealso:Adenosinekinasedeficiencyingroup13,andcyclicpyranopterinmonophosphatesynthase,molybdopterinsynthase,gephyrinandmolybdenumcofactorsulfurasedeficienciesingroup39.3.Disordersofnucleotideandnucleicacidmetabolism3’repairexonuclease1deficiency Aicardi-Goutièressyndrometype1;familialchilblain

lupus;retinalvasculopathywithcerebralleukodystrophy

AD,AR TREX1 606609

RibonucleaseH2subunitBdeficiency Aicardi-Goutièressyndrometype2 AR RNASEH2B 610326RibonucleaseH2subunitCdeficiency Aicardi-Goutièressyndrometype3 AR RNASEH2C 610330RibonucleaseH2subunitAdeficiency Aicardi-Goutièressyndrometype4 AR RNASEH2A 606034RibonucleaseT2deficiency Cysticleukoencephalopathywithoutmegalencephaly AR RNASET2 612944SAMHD1deficiency Aicardi-Goutièressyndrometype5;stenosis,

aneurysm,moyamoyaandstroke(SAMSassociation)AR SAMHD1 606754

RNA-specificadenosinedeaminasedeficiency

Aicardi-Goutièressyndrometype6(recessive);dyschromatosissymmetricahereditaria(dominant)

AD,AR ADAR 146920

MDA5superactivity Aicardi-Goutièressyndrometype7;Singleton-Mertensyndrometype1

AD IFIH1 606951

STINGsuperactivity STING-associatedvasculopathywithonsetininfancy(SAVI)

AD TMEM173 612374

2’,5’-oligoadenylatesynthetase1deficiency

Infantile-onsetpulmonaryalveolarproteinosiswithhypogammaglobulinemia

AD OAS1 164350

Activation-inducedcytidinedeaminasedeficiency

Hyper-IgMsyndrometype2 AR AICDA 605257

Uracil-DNAglycosylasedeficiency Hyper-IgMsyndrometype5 AR UNG 191525ABCC6deficiency Generalizedarterialcalcificationofinfancytype2

(severe);pseudoxanthomaelasticum(milder)AR ABCC6 603234

Ectonucleotidepyrophosphatase/phosphodiesterase1deficiency

Generalizedarterialcalcificationofinfancytype1;autosomalrecessivehypophosphatemicricketstype2

AR ENPP1 173335

Ectonucleotidepyrophosphatase/phosphodiesterase1dimerizationdeficiency

Coledisease AD,AR ENPP1 173335

Ecto-5'-nucleotidasedeficiency ArterialcalcificationduetodeficiencyofCD73(ACDC)

AR NT5E 129190

Equilibrativenucleosidetransporter1deficiency

AR SLC29A1 602193

Equilibrativenucleosidetransporter3deficiency

Hsyndrome;familialRosai-Dorfmandisease;Faisalabadhistiocytosis

AR SLC29A3 612373

4.DisordersofcreatinemetabolismArginine:glycineamidinotransferasedeficiency

Cerebralcreatinedeficiencysyndrometype3 AR GATM 602360

Arginine:glycineamidinotransferaseaggregationsyndrome

Fanconirenotubularsyndrometype1;Luder-Sheldonsyndrome

AD GATM 602360

Guanidinoacetatemethyltransferasedeficiency

Cerebralcreatinedeficiencysyndrometype2 AR GAMT 601240

Creatinetransporterdeficiency Cerebralcreatinedeficiencysyndrometype1 XL SLC6A8 3000365.DisordersofcholinemetabolismDimethylglycinedehydrogenasedeficiency

Dimethylglycinuria AR DMGDH 605849

Sarcosinedehydrogenasedeficiency Sarcosinemia AR SARDH 604455Flavinmonooxygenase3deficiency Primarytrimethylaminuria AR FMO3 1361326.Disordersofglutathionemetabolismγ-glutamylcysteinesynthetasedeficiency Glutamate-cysteineligasedeficiency AR GCLC 606857Glutathionesynthetasedeficiency AR GSS 601002γ-glutamyltranspeptidasedeficiency Glutathioninuria;γ-glutamyltransferasedeficiency AR GGT1 6123465-Oxoprolinasedeficiency AR OPLAH 614243Glutathionereductasedeficiency AR GSR 138300Glutathioneperoxidase4deficiency Spondylometaphysealdysplasia,Sedaghatiantype AR GPX4 138322

NRF2superactivity Immunodeficiency,developmentaldelay,andhypohomocysteinemia(IEMDHH)

AD NFE2L2 600492

7.DisordersofammoniadetoxificationN-acetylglutamatesynthasedeficiency AR NAGS 608300CarbamoylphosphatesynthetaseIdeficiency

AR CPS1 608307

Ornithinetranscarbamylasedeficiency XL OTC 300461Argininosuccinatesynthetasedeficiency Citrullinemia AR ASS1 603470Argininosuccinatelyasedeficiency Argininosuccinasedeficiency;argininosuccinic

aciduriaAR ASL 608310

Arginasedeficiency Argininemia AR ARG1 608313Mitochondrialornithinetransporterdeficiency

hyperornithinemia-hyperammonemia-homocitrullinuriasyndrome;ornithinetranslocasedeficiency

AR SLC25A15 603861

Citrindeficiency Mitochondrialaspartate-glutamatecarrierisoform2deficiency

AR SLC25A13 603859

CarbonicanhydraseVAdeficiency AR CA5A 114761Seealso:Lysinuricproteinintoleranceingroup8,δ-1-pyrroline-5-carboxylatesynthaseandornithineaminotransferasedeficienciesingroup16,glutamatedehydrogenasesuperactivityingroup20,glutaminesynthetasedeficiencyingroup21,pyruvatecarboxylasedeficiencyingroup52,andtransmembraneprotein70deficiencyingroup67.8.DisordersofaminoacidtransportHartnupdisorder AR SLC6A19 608893Iminoglycinuria AR(or

digenic)SLC36A2(±SLC6A20)

608331(±605616)

Hyperglycinuria AD SLC36A2 608331CystinuriatypeA AR SLC3A1 104614CystinuriatypeB AD,AR SLC7A9 604144Lysinuricproteinintolerance Dibasicaminoaciduriatype2 AR SLC7A7 603593Dicarboxylicaminoaciduria AR SLC1A1 133550Largeneutralaminoacidtransporterlightchaindeficiency

AR SLC7A5 600182

NeuronalsystemAaminoacidtransporterdeficiency

Fovealhypoplasiatype2withorwithoutopticnervemisroutingand/oranteriorsegmentdysgenesis

AR SLC38A8 615585

Vesicularneutralaminoacidtransporter3deficiency

Autosomalrecessivementalretardationtype48 AR SLC6A17 610299

Lysosomalcationicaminoacidtransporterdeficiency

Retinitispigmentosatype68 AR SLC7A14 615720

Seealso:Mitochondrialornithinetransporterandcitrindeficienciesingroup7,GABAtransporterdeficiencyingroup17,glutamateaspartatetransporter,astroglialglutamateaspartatetransporter,andmitochondrialglutamatetransporterdeficienciesingroup20,ASCT1transporterdeficiencyingroup23,glycinetransporter1,glycinetransporter2,andmitochondrialglycinetransporterdeficienciesingroup24,mitochondrialaspartate-glutamatecarrierisoform1deficiencyingroup57,andcystinosindeficiencyingroup107.9.AminoacylasedeficienciesAspartoacylasedeficiency Canavandisease;aminoacylase2deficiency AR ASPA 608034Aminoacylase1deficiency AR ACY1 10462010.DisordersofmonoaminemetabolismTyrosinehydroxylasedeficiency AR TH 191290AromaticL-aminoaciddecarboxylasedeficiency

DOPAdecarboxylasedeficiency AR DDC 107930

Dopamineβ-hydroxylasedeficiency AR DBH 609312MonoamineoxidaseAdeficiency Brunnersyndrome XLR MAOA 309850Dopaminetransporterdeficiency InfantileParkinsonism-dystonia AR SLC6A3 126455Vesicularmonoaminetransporter2deficiency

AR SLC18A2 193001

Cytochromeb561deficiency AR CYB561 60001911.DisordersofphenylalanineandtetrahydrobiopterinmetabolismPhenylalaninehydroxylasedeficiency Phenylketonuria AR PAH 612349AutosomalrecessiveGTPcyclohydrolase1deficiency

AR GCH1 600225

AutosomaldominantGTPcyclohydrolase1deficiency

Segawasyndrome;dystoniatype5A AD GCH1 600225

6-pyruvoyl-tetrahydropterinsynthasedeficiency

AR PTS 612719

Sepiapterinreductasedeficiency AD,AR SPR 182125Dihydropteridinereductasedeficiency AR QDPR 612676Pterin-4-α-carbinolaminedehydratasedeficiency

Primapterinuria;maturity-onsetdiabetesoftheyoung(MODY)withhypomagnesemiaandrenalmagnesiumloss

AR PCBD1 126090

DNAJC12deficiency Non-tetrahydrobiopterin-deficienthyperphenylalaninemia

AR DNAJC12 606060

12.Disordersoftyrosinemetabolism

Tyrosinasedeficiency Oculocutaneousalbinismtype1 AR TYR 606933Tyrosineaminotransferasedeficiency Tyrosinemiatype2;Richner-Hanhartsyndrome AR TAT 6130184-hydroxyphenylpyruvatedioxygenasedeficiency

Tyrosinemiatype3 AR HPD 609695

Hawkinsinuria AD HPD 609695Homogentisicacidoxidasedeficiency Alkaptonuria AR HGD 607474Maleylacetoacetateisomerasedeficiency Benignhypersuccinylacetonemia AR GSTZ1 603758Fumarylacetoacetasedeficiency Tyrosinemiatype1 AR FAH 61387113.DisordersofsulfuraminoacidandsulfidemetabolismMethionineadenosyltransferaseI/IIIdeficiency

Mudd’sdisease AR MAT1A 610550

Autosomaldominanthypermethioninemia

AD MAT1A 610550

GlycineN-methyltransferasedeficiency AR GNMT 606628S-adenosylhomocysteinehydrolasedeficiency

AR AHCY 180960

Adenosinekinasedeficiency AR ADK 102750Cystathionineβ-synthasedeficiency Classichomocystinuria AR CBS 613381Cystathionineγ-lyasedeficiency Cystathioninuria AR CTH 607657Methanethioloxidasedeficiency Extraoralhalitosis AR SELENBP1 604188Isolatedsulfiteoxidasedeficiency Sulfocysteinuria AR SUOX 606887Mitochondrialsulfurdioxygenasedeficiency

Ethylmalonicencephalopathy AR ETHE1 608451

14.Disordersofbranched-chainaminoacidmetabolismBranched-chainaminotransferase2deficiency

Hypervalinemiaandhyperleucine-isoleucinemia AR BCAT2 113530

Branched-chainketoaciddehydrogenaseE1αdeficiency

Maplesyrupurinediseasetype1a AR BCKDHA 608348

Branched-chainketoaciddehydrogenaseE1βdeficiency

Maplesyrupurinediseasetype1b AR BCKDHB 248611

Dihydrolipoyltransacylasedeficiency Maplesyrupurinediseasetype2;branched-chainketoaciddehydrogenaseE2deficiency

AR DBT 248610

Dihydrolipoamidedehydrogenasedeficiency

E3deficiency AR DLD 238331

Branched-chainketoaciddehydrogenasekinasedeficiency

AR BCKDK 614901

Isovaleryl-CoAdehydrogenasedeficiency Isovalericacidemia AR IVD 607036Isobutyryl-CoAdehydrogenasedeficiency AR ACAD8 6047732-Methylbutyryl-CoAdehydrogenasedeficiency

Short/branched-chainacyl-CoAdehydrogenasedeficiency;2-methylbutyrylglycinuria

AR ACADSB 600301

3-Methylcrotonyl-CoAcarboxylase1deficiency

3-methylcrotonylglycinuriatype1 AR MCCC1 609010

3-Methylcrotonyl-CoAcarboxylase2deficiency

3-methylcrotonylglycinuriatype2 AR MCCC2 609014

3-methylglutaconyl-CoAhydratasedeficiency

3-methylglutaconicaciduriatype1 AR AUH 600529

Mitochondrialshort-chainenoyl-CoAhydratase1deficiency

Crotonasedeficiency AR ECHS1 602292

3-hydroxyisobutyryl-CoAhydrolasedeficiency

β-hydroxyisobutyryl-CoAdeacylasedeficiency AR HIBCH 610690

HSD10disease 2-methyl-3-hydroxybutyryl-CoAdehydrogenasedeficiency

AR HSD17B10 300256

3-hydroxy-3-methylglutaryl-CoAlyasedeficiency

Hydroxymethylglutaricaciduria AR HMGCL 613898

Methylmalonatesemialdehydedehydrogenasedeficiency

AR ALDH6A1 603178

Propionicacidemiaduetopropionyl-CoAcarboxylaseαsubunitdeficiency

AR PCCA 232000

Propionicacidemiaduetopropionyl-CoAcarboxylaseβsubunitdeficiency

AR PCCB 232050

Methylmalonicaciduriaduetomethylmalonyl-CoAepimerasedeficiency

AR MCEE 608419

Methylmalonicaciduriaduetomethylmalonyl-CoAmutasedeficiency

AR MUT 609058

Acyl-CoAsynthetasefamilymember3deficiency

Combinedmalonicandmethylmalonicaciduria AR ACSF3 614245

Malonyl-CoAdecarboxylasedeficiency Malonicaciduria AR MLYCD 606761Seealso:Largeneutralaminoacidtransporterdeficiencyingroup8,andmitochondrialacetoacetyl-CoAthiolasedeficiencyingroup84.15.Disordersoflysinemetabolism

α-aminoadipicsemialdehydesynthasedeficiency

Familialhyperlysinemia;saccharopinuria AR AASS 605113

α-aminoadipicsemialdehydedehydrogenasedeficiency

Pyridoxine-dependentepilepsy AR ALDH7A1 107323

2-aminoadipic2-oxoadipicaciduria AR DHTKD1 614984Charcot-Marie-Toothdiseasetype2Q AD DHTKD1 614984Glutaryl-CoAdehydrogenasedeficiency Glutaricacidemiatype1 AR GCDH 608801Succinate-hydroxymethylglutarate-CoAtransferasedeficiency

Glutaricacidemiatype3 AR SUGCT 609187

5-phosphohydroxylysinephospholyasedeficiency

Phosphohydroxylysinuria AR PHYKPL 614683

16.Disordersofprolineandornithinemetabolismδ-1-pyrroline-5-carboxylatesynthasedeficiency,cutislaxaphenotype

Autosomalrecessivecutislaxatype3A;autosomaldominantcutislaxatype3

AD,AR ALDH18A1 138250

δ-1-pyrroline-5-carboxylatesynthasedeficiency,spasticparaplegiaphenotype

Autosomaldominantspasticparaplegiatype9A;autosomalrecessivespasticparaplegiatype9B

AD,AR ALDH18A1 138250

Pyrroline-5-carboxylatereductase1deficiency

Autosomalrecessivecutislaxatype2B;autosomalrecessivecutislaxatype3B

AR PYCR1 179035

Pyrroline-5-carboxylatereductase2deficiency

Hypomyelinatingleukodystrophytype10 AR PYCR2 616406

Prolinedehydrogenasedeficiency Prolineoxidasedeficiency;hyperprolinemiatype1 AR PRODH 606810Pyrroline-5-carboxylatedehydrogenasedeficiency

Hyperprolinemiatype2 AR ALDH4A1 606811

Hydroxyprolinedehydrogenasedeficiency

Hydroxyprolinemia AR PRODH2 616377

Prolidasedeficiency AR PEPD 613230X-prolylaminopeptidase3deficiency Nephronophthisis-likenephropathytype1 AR XPNPEP3 613553Ornithineaminotransferasedeficiency Gyrateatrophyofchoroidandretina AR OAT 613349Ornithinedecarboxylasesuperactivity Bachmann-Buppsyndrome AD ODC1 165640Sperminesynthasedeficiency Snyder-Robinsonsyndrome AR SMS 300105Seealso:4-hydroxy-2-oxoglutaratealdolase1deficiencyingroup114.17.Disordersofβ-andγ-aminoacidsDihydropyrimidinedehydrogenasedeficiency

AR DPYD 612779

Dihydropyrimidinasedeficiency Dihydropyrimidinuria AR DPYS 613326

β-ureidopropionasedeficiency β-alaninesynthasedeficiency AR UPB1 606673Hyper-β-aminoisobutyricaciduria AR AGXT2 612471GABAtransaminasedeficiency AR ABAT 137150Succinicsemialdehydedehydrogenasedeficiency

4-hydroxybutyricaciduria AR ALDH5A1 610045

GABAtransporterdeficiency Myoclonic-atonicepilepsy AD SLC6A1 137165GABAtypeAreceptorα1subunitdeficiency

Earlyinfantileepilepticencephalopathytype19 AD GABRA1 137160

GABAtypeAreceptorβ1subunitdeficiency

Earlyinfantileepilepticencephalopathytype45 AD GABRB1 137190

GABAtypeAreceptorβ2subunitdeficiency

Infantileorearlychildhoodepilepticencephalopathytype2

AD GABRB2 600232

GABAtypeAreceptorβ3subunitdeficiency

Earlyinfantileepilepticencephalopathytype43 AD GABRB3 137192

GABAtypeAreceptorγ2subunitdeficiency

AD GABRG2 137164

GABAtypeBreceptorsubunit2deficiency

AD GABBR2 607340

Seealso:Methylmalonatesemialdehydedehydrogenasedeficiencyingroup14.18.DisordersofhistidinemetabolismHistidineammonia-lyasedeficiency Histidasedeficiency;histidinemia AR HAL 60945719.DisordersoftryptophanmetabolismKynureninasedeficiency Xanthurenicaciduria;vertebral,cardiac,renal,and

limbdefectssyndrometype2AR KYNU 605197

3-hydroxyanthranilicacid3,4-dioxygenasedeficiency

Vertebral,cardiac,renal,andlimbdefectssyndrometype1

AR HAAO 604521

Tryptophan2,3-dioxygenasedeficiency Hypertryptophanemia AR TDO2 191070Seealso:Hartnupdisorderingroup8.20.DisordersofglutamatemetabolismGlutamatedehydrogenasesuperactivity Hyperinsulinism-hyperammonemiasyndrome;

familialhyperinsulinemichypoglycemiatype6AD GLUD1 138130

Glutamatepyruvatetransaminase2deficiency

AR GPT2 138210

Mitochondrialglutamatetransporterdeficiency

Earlyinfantileepilepticencephalopathytype3 AR SLC25A22 609302

Glutamateaspartatetransporterdeficiency

EAAT1deficiency;episodicataxiatype6 AD SLC1A3 600111

Astroglialglutamateaspartatetransporterdeficiency

EAAT2deficiency;earlyinfantileepilepticencephalopathytype41

AD SLC1A2 600300

IonotropicglutamatereceptorNMDAtypesubunit1dysregulation

Autosomaldominantmentalretardationtype8;neurodevelopmentaldisorderwithorwithouthyperkineticmovementsandseizures

AD,AR GRIN1 138249

IonotropicglutamatereceptorNMDAtypesubunit2Adysregulation

AD GRIN2A 138253

IonotropicglutamatereceptorNMDAtypesubunit2Bdysregulation

Earlyinfantileepilepticencephalopathytype27;autosomaldominantmentalretardationtype6

AD GRIN2B 138252

IonotropicglutamatereceptorNMDAtypesubunit2Dsuperactivity

Earlyinfantileepilepticencephalopathytype46 AD GRIN2D 602717

IonotropicglutamatereceptorAMPAtypesubunit3deficiency

SyndromicX-linkedmentalretardation,Wutype XLR GRIA3 305915

IonotropicglutamatereceptorAMPAtypesubunit4dysregulation

Neurodevelopmentaldisorderwithorwithoutseizuresandgaitabnormalities(NEDSGA)

AD GRIA4 138246

Thorasedeficiency Hyperekplexiatype4 AR ATAD1 614452Metabotropicglutamatereceptor1deficiency

Autosomalrecessivespinocerebellarataxiatype13 AR GRM1 604473

Metabotropicglutamatereceptor1superactivity

Spinocerebellarataxiatype44 AD GRM1 604473

Metabotropicglutamatereceptor6deficiency

Congenitalstationarynightblindnesstype1B AR GRM6 604096

21.DisorderofglutaminemetabolismGlutaminasedeficiency AR GLS 138280Glutaminesynthetasedeficiency AR GLUL 13829022.DisorderofasparaginemetabolismAsparaginesynthetasedeficiency AR ASNS 10837023.Disordersofserinemetabolism3-phosphoglyceratedehydrogenasedeficiency

AR PHGDH 606879

Phosphoserineaminotransferasedeficiency

AR PSAT1 610936

Phosphoserinephosphatasedeficiency AR PSPH 172480

ASCT1transporterdeficiency Spastictetraplegia,thincorpuscallosum,andprogressivemicrocephaly

AR SLC1A4 600229

Seealso:D-glyceratekinasedeficiencyingroup87.24.DisordersofglycinemetabolismGlycineencephalopathyduetoglycinedecarboxylasedeficiency

Nonketotichyperglycinemia AR GLDC 238300

Glycineencephalopathyduetoaminomethyltransferasedeficiency

Nonketotichyperglycinemia AR AMT 238310

Glycinetransporter1deficiency Glycineencephalopathywithnormalserumglycine AR SLC6A9 601019Glycinetransporter2deficiency Hereditaryhyperekplexiatype3 AD,AR SLC6A5 604159Glycinereceptorα1subunitdeficiency Hereditaryhyperekplexiatype1 AD,AR GLRA1 138491Glycinereceptorβsubunitdeficiency Hereditaryhyperekplexiatype2 AR GLRB 138492Mitochondrialglycinetransporterdeficiency

Congenitalsideroblasticanemiatype2 AR SLC25A38 610819

Seealso:Lipoyltransferase2,lipoicacidsynthase,NFU1,BOLA3,glutaredoxin5,IBA57,andISCA2deficienciesingroup25.B.DISORDERSOFVITAMINS,COFACTORS,METALSANDMINERALS

25.Disordersoflipoicacidandiron-sulfurmetabolismLipoyltransferase2deficiency Neonatalsevereencephalopathywithlacticacidosis

andbrainabnormalities(NELABA)AR LIPT2 617659

Lipoicacidsynthasedeficiency Hyperglycinemia,lacticacidosis,andseizures AR LIAS 607031

Lipoyltransferase1deficiency AR LIPT1 610284NFU1deficiency Multiplemitochondrialdysfunctionssyndrometype

1AR NFU1 608100

BOLA3deficiency Multiplemitochondrialdysfunctionssyndrometype2withhyperglycinemia

AR BOLA3 613183

Glutaredoxin5deficiency AR GLRX5 609588IBA57deficiency Multiplemitochondrialdysfunctionssyndrometype

3AR IBA57 615316

ISCA1deficiency Multiplemitochondrialdysfunctionssyndrometype5

AR ISCA1 611006

ISCA2deficiency Multiplemitochondrialdysfunctionssyndrometype4

AR ISCA2 615317

ISCUdeficiency Hereditarymyopathywithlacticacidosis,Swedishtypemyopathywithexerciseintolerance

AD,AR ISCU 611911

ABCB7deficiency Sideroblasticanemiaandspinocerebellarataxia XLR ABCB7 300135Ferredoxinreductasedeficiency Auditoryneuropathyandopticatrophy AR FDXR 103270Frataxindeficiency Friedreichataxia AR FXN 606829Seealso:HSPA9deficiencyingroup79.26.DisordersofcobalaminmetabolismHereditaryintrinsicfactordeficiency AR GIF 609342Cubilindeficiency Imerslund-Gräsbeckdisease,Finnishtype AR CUBN 602997Amnionlessdeficiency Imerslund-Gräsbeckdisease,Norwegiantype AR AMN 605799Haptocorrindeficiency TranscobalaminIdeficiency AD,AR TCN1 189905TranscobalaminIIdeficiency AR TCN2 613441Transcobalaminreceptordeficiency AR CD320 606475Methylmalonicaciduriaandhomocystinuria,cblFtype

AR LMBRD1 612625

Methylmalonicaciduriaandhomocystinuria,cblJtype

AR ABCD4 603214

Methylmalonicaciduriaandhomocystinuria,cblCtype

AR MMACHC 609831

Epi-cblC AR MMACHC+PRDX1

609831+176763

cblDdisease AR MMADHC 611935Methioninesynthasereductasedeficiency Homocystinuria-megaloblasticanemia,cblEtype AR MTRR 602568Methioninesynthasedeficiency Homocystinuria-megaloblasticanemia,cblGtype AR MTR 156570Methylmalonicaciduria,cblAtype AR MMAA 607481Methylmalonicaciduria,cblBtype AR MMAB 607568Methylmalonicaciduriaandhomocystinuria,cblXtype

XLR HCFC1 300019

27.DisordersoffolatemetabolismProton-coupledfolatetransporterdeficiency

Hereditaryfolatemalabsorption AR SLC46A1 611672

Folatereceptorαdeficiency Neurodegenerationduetocerebralfolatetransportdeficiency

AR FOLR1 136430

5,10-methylenetetrahydrofolatereductasedeficiency

AR MTHFR 607093

Methylenetetrahydrofolatedehydrogenase1deficiency

Combinedimmunodeficiencyandmegaloblasticanemiawithorwithouthyperhomocysteinemia(CIMAH)

AR MTHFD1 172460

5,10-methenyltetrahydrofolatesynthetasedeficiency

5-formyltetrahydrofolatecycloligasedeficiency AR MTHFS 604197

Dihydrofolatereductasedeficiency AR DHFR 126060Glutamateformiminotransferasedeficiency

Formiminoglutamicaciduria AR FTCD 606806

28.DisordersofbiotinmetabolismBiotinidasedeficiency AR BTD 609019Holocarboxylasesynthetasedeficiency AR HLCS 60901829.DisordersofthiaminemetabolismThiaminetransporter1deficiency Thiamine-responsivemegaloblasticanemia;Rogers

syndrome;thiaminemetabolismdysfunctionsyndrometype1

AR SLC19A2 603941

Thiaminetransporter2deficiency Biotin-thiamine-responsivebasalgangliadisease;thiaminemetabolismdysfunctionsyndrometype2

AR SLC19A3 606152

Thiaminepyrophosphokinasedeficiency Thiaminemetabolismdysfunctionsyndrometype5 AR TPK1 606370Mitochondrialthiaminepyrophosphatetransporterdeficiency

Amishlethalmicrocephaly,thiaminemetabolismdysfunctionsyndrometype3(severe);bilateralstriatalnecrosisandprogressivepolyneuropathy,thiaminemetabolismdysfunctionsyndrometype4(milder)

AR SLC25A19 606521

30.DisordersofriboflavinmetabolismRiboflavintransporter1deficiency Transientriboflavindeficiency AD SLC52A1 607883Riboflavintransporter2deficiency Brown-Vialetto-vanLaeresyndrometype1 AR SLC52A3 613350Riboflavintransporter3deficiency Brown-Vialetto-vanLaeresyndrometype2 AR SLC52A2 607882Flavinadeninedinucleotidesynthetasedeficiency

AR FLAD1 610595

Mitochondrialflavinadeninedinucleotidetransporterdeficiency

Riboflavin-responsiveexerciseintolerance AR SLC25A32 610815

Electrontransferflavoproteinαsubunitdeficiency

Glutaricacidemiatype2A;multipleacyl-CoAdehydrogenasedeficiencytype2A

AR ETFA 608053

Electrontransferflavoproteinβsubunitdeficiency

Glutaricacidemiatype2B;multipleacyl-CoAdehydrogenasedeficiencytype2B

AR ETFB 130410

Electrontransferflavoproteindehydrogenasedeficiency

Glutaricacidemiatype2C;multipleacyl-CoAdehydrogenasedeficiencytype2C

AR ETFDH 231675

31.DisordersofniacinandNADmetabolismNicotinamidemononucleotideadenylyltransferase1deficiency

Lebercongenitalamaurosis9 AR NMNAT1 608700

MitochondrialNADkinase2deficiency 2,4-dienoyl-CoAreductasedeficiencywithhyperlysinemia

AR NADK2 615787

NAD(P)HXepimerasedeficiency ApolipoproteinA-Ibindingproteindeficiency AR NAXE 608862NAD(P)HXdehydratasedeficiency CARKDdeficiency AR NAXD 615910Nicotinamidenucleotidetranshydrogenasedeficiency

Glucocorticoiddeficiencytype4 AR NNT 607878

Seealso:Hartnupdisorderingroup8,andkynureninaseand3-hydroxyanthranilicacid3,4-dioxygenasedeficienciesingroup19.32.DisordersofpantothenatemetabolismPantothenatekinase2deficiency Pantothenatekinase-associatedneurodegeneration

(PKAN);neurodegenerationwithbrainironaccumulationtype1

AR PANK2 606157

Phosphopantothenoylcysteinesynthetasedeficiency

Autosomalrecessivedilatedcardiomyopathy AR PPCS 609853

CoenzymeAsynthasedeficiency CoenzymeAsynthaseprotein-associatedneurodegeneration(CoPAN);neurodegenerationwithbrainironaccumulationtype6;pontocerebellarhypoplasiatype12

AR

COASY 609855

MitochondrialcoenzymeAtransporterdeficiency

AR SLC25A42 610823

33.DisordersofpyridoxinemetabolismPyridoxamine5'-phosphateoxidasedeficiency

AR PNPO 603287

Pyridoxal5’-phosphatebindingproteindeficiency

PROSCdeficiency AR PLPBP 604436

Tissue-nonspecificalkalinephosphatasedeficiency

Hypophosphatasia AD,AR ALPL 171760

Seealso:α-aminoadipicsemialdehydedehydrogenasedeficiencyingroup15,andpyrroline-5-carboxylatedehydrogenasedeficiencyingroup16.34.DisorderofvitaminCmetabolismL-dehydroascorbatetransporterdeficiency

GLUT10deficiency;arterialtortuositysyndrome AR SLC2A10 606145

Seealso:Cytochromeb561deficiencyingroup10.35.DisordersofvitaminAmetabolismβ-carotene15,15'-dioxygenasedeficiency HypercarotenemiaandvitaminAdeficiency AD BCO1 605748Plasmaretinol-bindingproteindeficiency Retinaldystrophy,iriscoloboma,andcomedogenic

acnesyndrome(recessive);isolatedmicrophthalmiaand/orcolobomatype10(dominant)

AD,AR RBP4 180250

VitaminAreceptordeficiency Matthew-Woodsyndrome;pulmonaryhypoplasia-diaphragmatichernia-anophthalmia-cardiacdefect(PDAC)syndrome

AR STRA6 610745

Lecithinretinolacyltransferasedeficiency Lebercongenitalamaurosistype14 AR LRAT 604863Retinalisomerasedeficiency Lebercongenitalamaurosistype2 AR RPE65 180069Retinoldehydrogenase5deficiency Fundusalbipunctatus AD,AR RDH5 601617Retinoldehydrogenase12deficiency Lebercongenitalamaurosistype13 AR RDH12 608830Short-chaindehydrogenase/reductasefamily9Cmember7deficiency

Autosomalrecessivecongenitalichthyosistype13 AR SDR9C7 609769

Interphotoreceptorretinol-bindingproteindeficiency

Retinitispigmentosatype66 AR RBP3 180290

Retinaldehydedehydrogenase3deficiency

Isolatedmicrophthalmiatype8 AR ALDH1A3 600463

Cellularretinaldehyde-bindingproteindeficiency

AD,AR RLBP1 180090

All-trans-retinoicacid-metabolizingcytochromedeficiency

Autosomalrecessivecongenitalichthyosistype13 AR CYP26B1 605207

9-cis-retinoicacid-metabolizingcytochromedeficiency

AR CYP26C1 608428

Retinoicacidreceptorβdeficiency Syndromicmicrophthalmiatype12 AD,AR RARB 18022036.DisordersofvitaminDmetabolism1-α-hydroxylasedeficiency VitaminD-dependentricketstype1A AR CYP27B1 609506VitaminD25-hydroxylasedeficiency VitaminD-dependentricketstype1B AR CYP2R1 608713VitaminDreceptordeficiency VitaminD-dependentricketstype2A AR VDR 601769VitaminD24-hydroxylasedeficiency Infantilehypercalcemiatype1 AR CYP24A1 12606537.DisorderofvitaminEmetabolismα-tocopheroltransferproteindeficiency AtaxiawithisolatedvitaminEdeficiency AR TTPA 60041538.DisordersofvitaminKmetabolism

γ-glutamylcarboxylasedeficiency CombineddeficiencyofvitaminK-dependentcoagulationfactorstype1

AR GGCX 137167

VitaminKepoxidereductasedeficiency CombineddeficiencyofvitaminK-dependentcoagulationfactorstype2

AR VKORC1 608547

Microsomalepoxidehydrolasedeficiency Familialhypercholanemia AR EPHX1 132810Menaquinone-4synthetasedeficiency Schnydercornealdystrophy AD UBIAD1 61163239.DisordersofmolybdenummetabolismCyclicpyranopterinmonophosphatesynthasedeficiency

MolybdenumcofactordeficiencytypeA AR MOCS1 603707

Molybdopterinsynthasedeficiency MolybdenumcofactordeficiencytypeB AR MOCS2 603708Gephyrindeficiency MolybdenumcofactordeficiencytypeC AR GPHN 603930Molybdenumcofactorsulfurasedeficiency

Xanthinuriatype2 AR MOCOS 613274

40.DisordersofcoppermetabolismCopper-transportingATPaseβsubunitdeficiency

Wilsondisease;hepatolenticulardegeneration AR ATP7B 606882

Copper-transportingATPaseαsubunitdeficiency

Menkesdisease(severe);occipitalhornsyndrome(milder)

XLR ATP7A 300011

ATP7A-relateddistalmotorneuropathy X-linkeddistalspinalmuscularatrophytype3 XLR ATP7A 300011MEDNIKsyndrome AR AP1S1 603531Acetyl-CoAtransporterdeficiency Huppke-Brendelsyndrome;congenitalcataracts,

hearingloss,andneurodegenerationAR SLC33A1 603690

41.DisordersofironmetabolismHereditaryhemochromatosistype1 AR HFE 613609Hemojuvelindeficiency Hereditaryhemochromatosistype2A AR HFE2 608374Hepcidindeficiency Hereditaryhemochromatosistype2B AR HAMP 606464Transferrinreceptor2deficiency Hereditaryhemochromatosistype3 AR TFR2 604720Ferroportindeficiency Hereditaryhemochromatosistype4 AD SLC40A1 604653Ferritinlightchaindeficiency HereditaryL-ferritindeficiency AD,AR FTL 134790Ferritinlightchainsuperactivity Neuroferritinopathy;neurodegenerationwithbrain

ironaccumulation3AR FTL 134790

Ferritinlightchaindysregulation Hyperferritinemia-cataractsyndrome AR FTL 134790Hereditaryceruloplasmindeficiency Aceruloplasminemia AR CP 117700Matriptrase2deficiency Iron-refractoryirondeficiencyanemia AR TMPRSS6 609862Hereditarytransferrindeficiency Atransferrinemia AR TF 190000

Transferrinreceptordeficiency Immunodeficiencytype46 AR TFRC 190010Divalentmetaltransporter1deficiency Hypochromicmicrocyticanemiawithironoverload

type1AR SLC11A2 600523

42.DisordersofmanganesemetabolismHypermanganesemiawithdystoniatype1 AR SLC30A10 611146SLC39A14deficiency Hyperostosiscranialisinterna(dominant);

hypermanganesemiawithdystoniatype2(recessive)AD,AR SLC39A14 608736

SLC39A8deficiency AR SLC39A8 608732Seealso:ATP13A2deficiencyingroup101.43.DisordersofzincmetabolismAcrodermatitisenteropathica AR SLC39A4 607059Transientneonatalzincdeficiency AD SLC30A2 609617SpondylocheirodysplasticEhlers-Danlossyndrome

AR SLC39A13 608735

Birk-Landau-Perezsyndrome AR SLC30A9 60460444.DisordersofseleniummetabolismSelenocysteineinsertionsequence-bindingprotein2deficiency

AR SECISBP2 607693

O-phosphoseryl-tRNA(Sec)seleniumtransferasedeficiency

Selenocysteinyl-tRNA(Sec)synthasedeficiency;progressivecerebellocerebralatrophy;pontocerebellarhypoplasiatype2D

AR SEPSECS 613009

45.DisordersofmagnesiummetabolismEpithelialmagnesiumtransporterdeficiency

Hypomagnesemiawithsecondaryhypocalcemia AR TRPM6 607009

Sodium-potassiumATPaseγsubunitdeficiency

Autosomaldominanthypomagnesemiawithhypocalciuria;renalhypomagnesemiatype2

AD FXYD2 601814

Claudin10deficiency Hypohydrosis,electrolyteimbalance,lacrimalglanddysfunction,ichthyosisandxerostomia(HELIX)syndrome

AR CLDN10 617579

Claudin16deficiency Familialhypomagnesemiawithhypercalciuriaandnephrocalcinosistype1;renalhypomagnesemiatype3

AR CLDN16 603959

Claudin19deficiency Familialhypomagnesemiawithhypercalciuriaandnephrocalcinosistype2;renalhypomagnesemiatype5withocularinvolvement

AR CLDN19 610036

CyclinM2deficiency Renalhypomagnesemiatype6 AD,AR CNNM2 607803Sodium-chloridecotransporterdeficiency Gitelmansyndrome AR SLC12A3 600968KCNJ10deficiency Epilepsy,ataxia,sensorineuraldeafness,tubulopathy

(EAST)syndrome;seizures,sensorineuraldeafness,ataxia,mentalretardation,electrolyteimbalance(SeSAME)syndrome

AR KCNJ10 612780

ATP1A1deficiency Renalhypomagnesemia,refractoryseizures,andintellectualdisability

AD ATP1A1 ndufb

Seealso:Pterin-4-α-carbinolaminedehydratasedeficiencyingroup11,hepatocytenuclearfactor-1βdeficiencyingroup50,mitochondrialtRNA(Ile)deficiencyingroup73,andmitochondrialseryl-tRNAsynthetasedeficiencyingroup74.

C.DISORDERSOFCARBOHYDRATES46.DisordersofcarbohydratetransportandabsorptionBlood-brainbarrierglucosetransporter1deficiency

GLUT1deficiency AD,AR SLC2A1 138140

Neuronalglucosetransporterdeficiency Intellectualdevelopmentaldisorderwithneuropsychiatricfeatures

AR SLC45A1 605763

Glucosetransporter2deficiency Fanconi-Bickelsyndrome AR SLC2A2 138160Intestinalsodium-glucosecotransporter1deficiency

Glucose-galactosemalabsorption AR SLC5A1 182380

Congenitalsucrase-isomaltasedeficiency AR SI 609845Trehalasedeficiency TREH 275360Congenitallactasedeficiency Congenitalalactasia AR LCT 603202Renalsodium-glucosecotransporter2deficiency

Familialrenalglucosuriatype1 AD,AR SLC5A2 182381

47.DisordersofgalactosemetabolismGalactose-1-phosphateuridylyltransferasedeficiency

Classicgalactosemia;galactosemiatype1 AR GALT 606999

Galactokinasedeficiency Galactosemiatype2 AR GALK1 604313Galactoseepimerasedeficiency Galactosemiatype3 AR GALE 606953Galactosemutarotasedeficiency Galactosemiatype4 AR GALM 13703048.DisordersoffructosemetabolismHepaticfructokinasedeficiency Essentialfructosuria AR KHK 614058AldolaseBdeficiency Hereditaryfructoseintolerance AR ALDOB 612724Seealso:Fructose-1,6-bisphosphatasedeficiencyingroup52,andD-glyceratekinasedeficiencyingroup87.49.Disordersofthepentosephosphatepathwayandpolyolmetabolism

Glucose-6-phosphatedehydrogenasedeficiency

XLR G6PD 305900

Ribose5-phosphateisomerasedeficiency AR RPIA 180430Transaldolasedeficiency AR TALDO1 602063Transketolasedeficiency Shortstature,developmentaldelay,andcongenital

heartdefectsAR TKT 606781

Sedoheptulosekinasedeficiency AR SHPK 605060L-xylulosereductasedeficiency Pentosuria;xylitoldehydrogenasedeficiency AR DCXR 60834750.DisordersofinsulinsecretionandsignalingATP-sensitivepotassiumchannelregulatorysubunitdeficiency

Familialhyperinsulinemichypoglycemiatype1 AD,AR ABCC8 600509

ATP-sensitivepotassiumchannelregulatorysubunitsuperactivity

Developmentaldelay,epilepsyandneonataldiabetes(DEND),permanentortransientneonataldiabeteswithoutneurologicfeatures(severe);maturity-onsetdiabetesoftheyoungtype12(milder)

AD,AR ABCC8 600509

ATP-sensitivepotassiumchannelpore-formingsubunitdeficiency

Familialhyperinsulinemichypoglycemiatype2 AR KCNJ11 600937

ATP-sensitivepotassiumchannelpore-formingsubunitsuperactivity

Developmentaldelay,epilepsyandneonataldiabetes(DEND),permanentortransientneonataldiabeteswithoutneurologicfeatures(severe);maturity-onsetdiabetesoftheyoungtype13(milder)

AD,AR KCNJ11 600937

Hepatocytenuclearfactor-4αdeficiency AD HNF4A 600281Hepatocytenuclearfactor-1αdeficiency AD HNF1A 142410Hepatocytenuclearfactor-1βdeficiency AD HNF1B 189907Uncouplingprotein2deficiency AD UCP2 601693Primarycongenitalinsulindeficiency Permanentneonataldiabetesmellitus(severe);

maturity-onsetdiabetesoftheyoungtype10(milder)

AD INS 176730

Proinsulincleavagedeficiency Hyperproinsulinemia AD INS 176730Insulinreceptordysregulation Familialhyperinsulinemichypoglycemiatype5 AD INSR 147670Insulinpromoterfactor1deficiency Maturity-onsetdiabetesoftheyoungtype4

(dominant);pancreaticagenesis(recessive)AD,AR PDX1 600733

Neurogenicdifferentiationfactor1deficiency

Maturity-onsetdiabetesoftheyoungtype6(dominant);permanentneonataldiabetesandneurologicanomalies(recessive)

AD,AR NEUROD1 601724

Krüppel-likefactor11deficiency Maturity-onsetdiabetesoftheyoungtype7 AD KLF11 603301PAX4deficiency Maturity-onsetdiabetesoftheyoungtype9 AD PAX4 167413BLKdeficiency Maturity-onsetdiabetesoftheyoungtype11 AD BLK 191305APPL1deficiency Maturity-onsetdiabetesoftheyoungtype14 AD APPL1 604299AKT2superactivity Hypoinsulinemichypoglycemiawith

hemihypertrophyAD AKT2 164731

RFX6deficiency Mitchell-Rileysyndrome(recessive);maturity-onsetdiabetesoftheyoung(dominant)

AD,AR RFX6 612659

Seealso:Adenosinekinasedeficiencyingroup13,glutamatedehydrogenasesuperactivityingroup20,glucokinasesuperactivityingroup53,short-chain3-hydroxyacyl-CoAdehydrogenasedeficiencyingroup83,catalyticphosphatidylinositol3-kinaseαsubunitsuperactivityingroup93,phosphomannomutase2,phosphomannoseisomerase,ALG3α-1,3-mannosyltransferase,andALG6α-1,3-glucosyltransferasedeficienciesingroup115,andphosphoglucomutase1deficiencyingroup125.51.GlycogenstoragediseasesMuscleglycogenin1deficiency Glycogenstoragediseasetype15;polyglucosanbody

myopathytype2AR GYG1 603942

Muscleglycogensynthasedeficiency Glycogenstoragediseasetype0b AR GYS1 138570Hepaticglycogensynthasedeficiency Glycogenstoragediseasetype0a AR GYS2 138571Glucose-6-phosphatetransporterdeficiency

Glycogenstoragediseasetype1b AR SLC37A4 602671

α-glucosidasedeficiency Glycogenstoragediseasetype2;Pompedisease AR GAA 606800Glycogendebranchingenzymedeficiency Glycogenstoragediseasetype3;Cori-Forbesdisease;

limitdextrinosisAR AGL 610860

Glycogenbranchingenzymedeficiency Glycogenstoragediseasetype4;Andersendisease;adultpolyglucosanbodydisease

AR GBE1 607839

Muscleglycogenphosphorylasedeficiency

Glycogenstoragediseasetype5;McArdledisease AR PYGM 608455

Liverglycogenphosphorylasedeficiency Glycogenstoragediseasetype6;Hersdisease AR PYGL 613741Hepaticphosphorylasekinaseα2subunitdeficiency

Glycogenstoragediseasetype9a XLR PHKA2 300798

Phosphorylasekinaseβsubunitdeficiency

Glycogenstoragediseasetype9b AR PHKB 172490

Hepaticphosphorylasekinaseγ2subunitdeficiency

Glycogenstoragediseasetype9c AR PHKG2 172471

Musclephosphorylasekinaseα1subunitdeficiency

Glycogenstoragediseasetype9d AR PHKA1 311870

HOIL1deficiency Polyglucosanbodymyopathytype1;HOILdeficiency AR RBCK1 610924Cardiacphosphorylasekinasedeficiency AD PRKAG2 602743Lysosome-associatedmembraneprotein2deficiency

Danondisease XL LAMP2 309060

Laforindeficiency Progressivemyoclonicepilepsytype2A AR EPM2A 607566Malindeficiency Progressivemyoclonicepilepsytype2B AR NHLRC1 608072Seealso:α-glucosidasedeficiencyingroup51,glucose-6-phosphatasedeficiencyingroup52,musclephosphofructokinase,aldolaseA,enolaseβ,musclephosphoglyceratemutase,andlactatedehydrogenaseAdeficienciesingroup53,andphosphoglucomutase1deficiencyingroup125.52.DisordersofgluconeogenesisGlucose-6-phosphatasedeficiency Glycogenstoragediseasetype1a AR G6PC 613742Fructose-1,6-bisphosphatasedeficiency AR FBP1 611570Pyruvatecarboxylasedeficiency AR PC 608786Cytosolicphosphoenolpyruvatecarboxykinasedeficiency

AR PCK1 614168

53.DisordersofglycolysisHemolyticanemiaduetohexokinasedeficiency

AR HK1 142600

Hereditarymotorandsensoryneuropathy,Russetype

Charcot-Marie-Toothdiseasetype4G AR HK1 142600

Retinitispigmentosatype79 AD HK1 142600Glucokinasedeficiency Permanentneonataldiabetesmellitus;MODYtype2 AD GCK 138079Glucokinasesuperactivity Familialhyperinsulinemichypoglycemiatype3 AD GCK 138079Glucose-6-phosphateisomerasedeficiency

AR GPI 172400

Musclephosphofructokinasedeficiency Glycogenstoragediseasetype7;Taruidisease AR PFKM 610681AldolaseAdeficiency Glycogenstoragediseasetype12 AR ALDOA 103850Triosephosphateisomerasedeficiency AR TPI1 190450Phosphoglyceratekinasedeficiency XLR PGK1 311800Musclephosphoglyceratemutasedeficiency

Glycogenstoragediseasetype10;DiMaurodisease AR PGAM2 612931

Enolaseβdeficiency Glycogenstoragediseasetype13 AR ENO3 131370Pyruvatekinasedeficiency AR PKLR 609712LactatedehydrogenaseAdeficiency Glycogenstoragediseasetype11 AR LDHA 150000LactatedehydrogenaseBdeficiency AD,AR LDHB 150100

D.MITOCHONDRIALDISORDERSOFENERGYMETABOLISM

54.DisordersofpyruvatemetabolismPyruvatedehydrogenaseE1-αdeficiency XL PDHA1 300502PyruvatedehydrogenaseE1-βdeficiency AR PDHB 179060Dihydrolipoamideacetyltransferasedeficiency

PyruvatedehydrogenaseE2deficiency AR DLAT 608770

PyruvatedehydrogenaseE3-bindingproteindeficiency

PyruvatedehydrogenasecomponentXdeficiency AR PDHX 608769

Pyruvatedehydrogenasephosphatasedeficiency

AR PDP1 605993

Mitochondrialpyruvatecarrierdeficiency AR MPC1 614738Pyruvatedehydrogenasekinaseisoenzyme3superactivity

X-linkedCharcot-Marie-Toothtype6 XLD PDK3 300906

Seealso:Dihydrolipoamidedehydrogenasedeficiencyingroup14,glutamatepyruvatetransaminase2deficiencyingroup20,andpyruvatecarboxylasedeficiencyingroup52.55.DisordersoftheKrebscycleMitochondrialaconitasedeficiency Infantilecerebellar-retinaldegeneration AR ACO2 100850MitochondrialNADH-dependentisocitratedehydrogenase2superactivity

D-2-hydroxyglutaricaciduriatype2 AD IDH2 147650

MitochondrialNADPH-dependentisocitratedehydrogenase3βsubunitdeficiency

AR IDH3B 604526

ATP-specificsuccinyl-CoAligaseβsubunitdeficiency

MitochondrialDNAdepletionsyndrometype5 AR SUCLA2 603921

GTP-specificsuccinyl-CoAligaseαsubunitdeficiency

MitochondrialDNAdepletionsyndrometype9 AR SUCLG1 611224

Fumaratehydratasedeficiency Fumarasedeficiency AR FH 136850Fumaratehydratasedeficiency,tumoralphenotype

Reedsyndrome AD FH 136850

Mitochondrialmalatedehydrogenasedeficiency

Earlyinfantileepilepticencephalopathytype51 AR MDH2 154100

Plasmamembranecitratetransporterdeficiency

Earlyinfantileepilepticencephalopathytype25 AR SLC13A5 608305

Sodiumdicarboxylatecotransporter3deficiency

AR SLC13A3 606411

Seealso:Dihydrolipoamidedehydrogenasedeficiencyingroup14,succinatedehydrogenasesubunitsA,B,CandDdeficienciesingroup60,andsuccinatedehydrogenaseassemblyfactors1and2deficienciesingroup61.56.DisordersofmetaboliterepairD-2-hydroxyglutaratedehydrogenasedeficiency

D-2-hydroxyglutaricaciduriatype1 AR D2HGDH 609186

L-2-hydroxyglutaratedehydrogenasedeficiency

L-2-hydroxyglutaricaciduria AR L2HGDH 609584

Seealso:NAD(P)HXepimeraseandNAD(P)HXdehydratasedeficienciesingroup31,glucose-6-phosphatetransporterdeficiencyingroup51,andglucose-6-phosphatasecatalyticsubunit3deficiencyingroup125.57.DisordersofmitochondrialcarriersAdeninenucleotidetranslocatordeficiency

MitochondrialDNAdepletionsyndrometype12(cardiomyopathictype);adPEOwithmitochondrialDNAdeletionstype2

AD,AR SLC25A4 103220

Mitochondrialphosphatecarrierdeficiency

AR SLC25A3 600370

Mitochondrialaspartate-glutamatecarrierisoform1deficiency

Earlyinfantileepilepticencephalopathytype39;aralar1deficiency

AR SLC25A12 603667

Cytosolicglycerol-3-phosphatedehydrogenasedeficiency

Transientinfantilehypertriglyceridemia AR GPD1 138420

S-adenosylmethioninecarrierdeficiency Combinedoxidativephosphorylationdeficiencytype28

AR SLC25A26 611037

Mitochondrialcitratecarrierdeficiency CombinedD-2-andL-2-hydroxyglutaricaciduria AR SLC25A1 190315MitochondrialATP-Mg/phosphatetransporterdeficiency

Gorlin-Chaudhry-Mosssyndrome;Fontainesyndrome

AD SLC25A24 608744

Seealso:Mitochondrialornithinetransporterandcitrindeficienciesingroup7,mitochondrialglutamatetransporterdeficiencyingroup20,mitochondrialglycinetransporterdeficiencyingroup24,mitochondrialthiaminepyrophosphatetransporterdeficiencyingroup29,mitochondrialflavinadeninedinucleotidetransporterdeficiencyingroup30,mitochondrialpyruvatecarrierdeficiencyingroup54,andcarnitine-acylcarnitinetranslocasedeficiencyingroup82.58.DisordersofcomplexIsubunitsNADHdehydrogenaseflavoprotein1deficiency

AR NDUFV1 161015

NADHdehydrogenaseflavoprotein2deficiency

AR NDUFV2 600532

NADHdehydrogenaseiron-sulfurprotein1deficiency

AR NDUFS1 157655

NADHdehydrogenaseiron-sulfurprotein2deficiency

AR NDUFS2 602985

NADHdehydrogenaseiron-sulfurprotein3deficiency

AR NDUFS3 603846

NADHdehydrogenaseiron-sulfurprotein7deficiency

AR NDUFS7 601825

NADHdehydrogenaseiron-sulfurprotein8deficiency

AR NDUFS8 602141

NADHdehydrogenaseiron-sulfurprotein4deficiency

AR NDUFS4 602694

NADHdehydrogenaseiron-sulfurprotein6deficiency

AR NDUFS6 603848

NADHdehydrogenaseαsubcomplexsubunit1deficiency

XLR NDUFA1 300078

NADHdehydrogenaseαsubcomplexsubunit2deficiency

AR NDUFA2 602137

NADHdehydrogenaseαsubcomplexsubunit6deficiency

AR NDUFA6 602138

NADHdehydrogenaseαsubcomplexsubunit9deficiency

AR NDUFA9 603834

NADHdehydrogenaseαsubcomplexsubunit10deficiency

AR NDUFA10 603835

NADHdehydrogenaseαsubcomplexsubunit12deficiency

AR NDUFA12 614530

NADHdehydrogenaseβsubcomplexsubunit3deficiency

AR NDUFB3 603839

NADHdehydrogenaseβsubcomplexsubunit8deficiency

AR NDUFB8 602140

NADHdehydrogenaseβsubcomplexsubunit11deficiency

Linearskindefectswithmultiplecongenitalanomaliestype3

XL NDUFB11 300403

NADHdehydrogenasecoresubunit1deficiency

Mit MT-ND1 516000

NADHdehydrogenasecoresubunit2deficiency

Mit MT-ND2 516001

NADHdehydrogenasecoresubunit3deficiency

Mit MT-ND3 516002

NADHdehydrogenasecoresubunit4deficiency

Mit MT-ND4 516003

NADHdehydrogenasecoresubunit4Ldeficiency

Mit MT-ND4L 516004

NADHdehydrogenasecoresubunit5deficiency

Mit MT-ND5 516005

NADHdehydrogenasecoresubunit6deficiency

Mit MT-ND6 516006

59.DisordersofcomplexIassemblyNADHdehydrogenaseαsubcomplexassemblyfactor1deficiency

AR NDUFAF1 606934

NADHdehydrogenaseαsubcomplexassemblyfactor2deficiency

AR NDUFAF2 609653

NADHdehydrogenaseαsubcomplexassemblyfactor3deficiency

AR NDUFAF3 612911

NADHdehydrogenaseαsubcomplexassemblyfactor4deficiency

AR NDUFAF4 611776

NADHdehydrogenaseαsubcomplexassemblyfactor5deficiency

AR NDUFAF5 612360

NADHdehydrogenaseαsubcomplexassemblyfactor6deficiency

AR NDUFAF6 612392

FOXRED1deficiency AR FOXRED1 613622NUBPLdeficiency AR NUBPL 613621ACAD9deficiency AR ACAD9 611103Transmembraneprotein126Bdeficiency AR TMEM126B 615533TIMMDC1deficiency MitochondrialcomplexIdeficiency,nucleartype31 AR TIMMDC1 61553460.DisordersofcomplexIIsubunitsSuccinatedehydrogenasesubunitAdeficiency

AR SDHA 600857

SuccinatedehydrogenasesubunitAdeficiency,tumoralphenotype

Hereditaryparagangliomasyndrometype5 AD SDHA 600857

SuccinatedehydrogenasesubunitBdeficiency

AR SDHB 185470

SuccinatedehydrogenasesubunitBdeficiency,tumoralphenotype

Hereditaryparagangliomasyndrometype4;Cowdensyndrometype2

AD SDHB 185470

SuccinatedehydrogenasesubunitCdeficiency,tumoralphenotype

Hereditaryparagangliomasyndrometype3 AD SDHC 602413

SuccinatedehydrogenasesubunitDdeficiency

AR SDHD 602690

SuccinatedehydrogenasesubunitDdeficiency,tumoralphenotype

Hereditaryparagangliomasyndrometype1;Cowdensyndrometype3

AD SDHD 602690

61.DisordersofcomplexIIassemblySuccinatedehydrogenasecomplexassemblyfactor1deficiency

AR SDHAF1 612848

Succinatedehydrogenasecomplexassemblyfactor2deficiency,tumoralphenotype

Hereditaryparagangliomasyndrometype2 AD SDHAF2 613019

62.DisordersofcomplexIIIsubunitsUQCRBdeficiency AR UQCRB 191330UQCRC2deficiency AR UQCRC2 191329Seealso:Mitochondrialcytochromec1deficiencyingroup68.63.DisordersofcomplexIIIassemblyBCS1Ldeficiency GRACILEsyndrome;Björnstadsyndrome AR BCS1L 603647TTC19deficiency AR TTC19 613814UQCC2deficiency AR UQCC2 614461LYRM7deficiency AR LYRM7 615831UQCC2deficiency MitochondrialcomplexIIIdeficiency,nucleartype7 AR UQCC2 61446164.DisordersofcomplexIVsubunitsCytochromecoxidasesubunit1deficiency

Mit MT-CO1 516030

Cytochromecoxidasesubunit2deficiency

Mit MT-CO2 516040

Cytochromecoxidasesubunit3deficiency

Mit MT-CO3 516050

Cytochromecoxidasesubunit4I2deficiency

Exocrinepancreaticinsufficiency,dyserythropoieticanemia,andcalvarialhyperostosis

AR COX4I2 607976

Cytochromecoxidasesubunit6A1deficiency

RecessiveintermediateCharcot-Marie-ToothdiseasetypeD

AR COX6A1 602072

Cytochromecoxidasesubunit6B1deficiency

AR COX6B1 124089

Cytochromecoxidasesubunit7Bdeficiency

Linearskindefectswithmultiplecongenitalanomaliestype2

XL COX7B 300885

65.DisordersofcomplexIVassemblyandancillaryproteinsCytochromecoxidaseassemblyfactor6deficiency

AR COA6 614772

COX10deficiency AR COX10 602125COX15deficiency AR COX15 603646COX20deficiency AR COX20 614698SCO1deficiency AR SCO1 603644SCO2deficiency AR SCO2 604272SURF1deficiency AR SURF1 185620LRPPRCdeficiency AR LRPPRC 607544TACO1deficiency AR TACO1 612958PET100deficiency AR PET100 614770FASTKD2deficiency AR FASTKD2 612322APOPT1deficiency AR APOPT1 616003Seealso:Mitochondrialphosphatecarrierdeficiencyingroup57.66.DisordersofcomplexVsubunitsMitochondrialATPsynthaseF1subunitadeficiency

AR ATP5F1A 164360

MitochondrialATPsynthaseF1subunitδdeficiency

AR ATP5F1D 603150

MitochondrialATPsynthaseF1subunitedeficiency

AR ATP5F1E 606153

DAPITdeficiency USMG5deficiency AR ATP5MD 615204MitochondrialATPsynthaseF0subunit6deficiency

Mit MT-ATP6 516060

MitochondrialATPsynthaseF0subunit8deficiency

Mit MT-ATP8 516070

67.DisordersofcomplexVassemblyTransmembraneprotein70deficiency AR TMEM70 61241868.DisordersofmitochondrialcytochromesynthesisandincorporationMitochondrialcytochromebdeficiency Mit MT-CYB 516020Mitochondrialcytochromec1deficiency AR CYC1 123980Mitochondrialcytochromecdeficiency Thrombocytopeniatype4 AD CYCS 123970

Holocytochromecsynthasedeficiency Linearskindefectswithmultiplecongenitalanomaliestype1

XLD HCCS 300056

69.DisordersofmitochondrialDNAdepletion,multipledeletion,orintergenomiccommunicationMitochondrialDNApolymerasegcatalyticsubunitdeficiency

MitochondrialDNAdepletionsyndrometype1;Alpers-Huttenlochersyndrome;mitochondrialrecessiveataxiasyndrome(MIRAS);arPEOtype1;adPEOtype1

AD,AR POLG 174763

MitochondrialDNApolymerasegaccessorysubunitdeficiency

adPEOwithmitochondrialDNAdeletionstype4 AD POLG2 604983

Mitochondrialdeoxyguanosinekinasedeficiency

MitochondrialDNAdepletionsyndrometype3;arPEOwithmitochondrialDNAdeletionstype4;noncirrhoticportalhypertension

AR DGUOK 601465

MPV17deficiency MitochondrialDNAdepletionsyndrometype6 AR MPV17 137960TWINKLEmitochondrialDNAhelicasedeficiency

MitochondrialDNAdepletionsyndrometype7;Perraultsyndrometype5;arPEOwithmitochondrialDNAdeletionstype5

AR TWNK 606075

Topoisomerase3αdeficiency arPEOwithmitochondrialDNAdeletionstype5 AR TOP3A 601243Mitochondrialthymidinekinasedeficiency

MitochondrialDNAdepletionsyndrometype2 AR TK2 188250

Mitochondrialribonucleotidereductasesmallsubunitdeficiency

MitochondrialDNAdepletionsyndrometype8;adPEOwithmitochondrialDNAdeletionstype5

AD,AR RRM2B 604712

Thymidinephosphorylasedeficiency Mitochondrialneurogastrointestinalencephalopathysyndrome

AR TYMP 131222

DNA2helicasedeficiency adPEOwithmitochondrialDNAdeletionstype6 AD DNA2 601810MitochondrialribonucleaseH1deficiency arPEOwithmitochondrialDNAdeletionstype2 AR RNASEH1 604123Mitochondrialgenomemaintenanceexonuclease1deficiency

MitochondrialDNAdepletionsyndrometype11 AR MGME1 615076

FBXL4deficiency MitochondrialDNAdepletionsyndrometype13 AR FBXL4 605654Seealso:ATP-specificsuccinyl-CoAligaseβsubunitandGTP-specificsuccinyl-CoAligaseαsubunitdeficienciesingroup55,andadeninenucleotidetranslocatordeficiencyingroup57.70.DisordersofmitochondrialtranscriptionandRNAtranscriptprocessingMitochondrialRNAimportproteindeficiency

Combinedoxidativephosphorylationdeficiencytype13

AR PNPT1 610316

RibonucleaseP5'tRNAprocessingenzymedeficiency

Combinedoxidativephosphorylationdeficiency30 AR TRMT10C 615423

RibonucleaseZ3'tRNAprocessingenzymedeficiency

Combinedoxidativephosphorylationdeficiency17 AR ELAC2 605367

Mitochondrialpoly(A)polymerasedeficiency

AR MTPAP 613669

CCA-addingtRNA-nucleotidyltransferasedeficiency

SideroblasticanemiawithB-cellimmunodeficiency,periodicfevers,anddevelopmentaldelay(severe);retinitispigmentosaanderythrocyticmicrocytosis(milder)

AR TRNT1 612907

Mitochondrialmethionyl-tRNAformyltransferasedeficiency

Combinedoxidativephosphorylationdeficiencytype15

AR MTFMT 611766

tRNA5-taurinomethyluridinemodifierdeficiency

Combinedoxidativephosphorylationdeficiencytype23

AR GTPBP3 608536

tRNA5-carboxymethylaminomethyltransferasedeficiency

Combinedoxidativephosphorylationdeficiencytype10

AR MTO1 614667

Pseudouridinesynthase1deficiency Myopathy,lacticacidosis,andsideroblasticanemiatype1

AR PUS1 608109

tRNAisopentenyltransferasedeficiency AR TRIT1 617840tRNAmethyltransferase5deficiency Combinedoxidativephosphorylationdeficiencytype

26AR TRMT5 611023

tRNA5-methylaminomethyl-2-thiouridylate-methyltransferasedeficiency

Transientinfantileliverfailure AR TRMU 610230

tRNAHisguanylyltransferase1likedeficiency

AR THG1L -

MitochondrialRNA-processingendoribonucleasedeficiency

Cartilage-hairhypoplasia;metaphysealdysplasiawithouthypotrichosis;anauxeticdysplasiatype1

AR RMRP 157660

Seealso:HSD10diseaseingroup14.71.MitochondrialribosomopathiesMitochondrialribosomallargesubunit3deficiency

Combinedoxidativephosphorylationdeficiencytype9

AR MRPL3 607118

Mitochondrialribosomallargesubunit44deficiency

Combinedoxidativephosphorylationdeficiencytype16

AR MRPL44 611849

Mitochondrialribosomalsmallsubunit2deficiency

AR MRPS2 611971

Mitochondrialribosomalsmallsubunit16deficiency

Combinedoxidativephosphorylationdeficiencytype2

AR MRPS16 609204

Mitochondrialribosomalsmallsubunit22deficiency

Combinedoxidativephosphorylationdeficiencytype5(severe);ovariandysgenesistype7(milder)

AR MRPS22 605810

Mitochondrialribosomalsmallsubunit34deficiency

Combinedoxidativephosphorylationdeficiencytype32

AR MRPS34 611994

MitochondrialribosomalRNA12Sdeficiency

Mit MT-RNR1 561000

MitochondrialribosomalRNA16Sdeficiency

Mit MT-RNR2 561010

ERAL1deficiency Perraultsyndrometype6 AR ERAL1 60743572.DisordersofmitochondrialtranslationfactorsRMND1deficiency Combinedoxidativephosphorylationdeficiencytype

11AR RMND1 614917

MitochondrialelongationfactorG1deficiency

Combinedoxidativephosphorylationdeficiencytype1

AR GFM1 606639

MitochondrialelongationfactorG2deficiency

AR GFM2 606544

MitochondrialelongationfactorTsdeficiency

Combinedoxidativephosphorylationdeficiencytype3

AR TSFM 604723

MitochondrialelongationfactorTudeficiency

Combinedoxidativephosphorylationdeficiencytype4

AR TUFM 602389

C12orf65releasefactordeficiency Combinedoxidativephosphorylationdeficiencytype7;autosomalrecessivespasticparaplegiatype55

AR C12orf65 613541

GUF1deficiency Earlyinfantileepilepticencephalopathy40 AR GUF1 61706473.DisordersofmitochondrialtRNAMitochondrialtRNA(Ala)deficiency Mit MT-TA 590000MitochondrialtRNA(Arg)deficiency Mit MT-TR 590005MitochondrialtRNA(Asn)deficiency Mit MT-TN 590010MitochondrialtRNA(Asp)deficiency Mit MT-TD 590015MitochondrialtRNA(Cys)deficiency Mit MT-TC 590020MitochondrialtRNA(Glu)deficiency Mit MT-TE 590025MitochondrialtRNA(Gln)deficiency Mit MT-TQ 590030MitochondrialtRNA(Gly)deficiency Mit MT-TG 590035MitochondrialtRNA(His)deficiency Mit MT-TH 590040MitochondrialtRNA(Ile)deficiency Mit MT-TI 590045MitochondrialtRNA(Leu)1deficiency Mit MT-TL1 590050

MitochondrialtRNA(Leu)2deficiency Mit MT-TL2 590055MitochondrialtRNA(Lys)deficiency Mit MT-TK 590060MitochondrialtRNA(Met)deficiency Mit MT-TM 590065MitochondrialtRNA(Phe)deficiency Mit MT-TF 590070MitochondrialtRNA(Pro)deficiency Mit MT-TP 590075MitochondrialtRNA(Ser)1deficiency Mit MT-TS1 590080MitochondrialtRNA(Ser)2deficiency Mit MT-TS2 590085MitochondrialtRNA(Thr)deficiency Mit MT-TT 590090MitochondrialtRNA(Trp)deficiency Mit MT-TW 590095MitochondrialtRNA(Tyr)deficiency Mit MT-TY 590100MitochondrialtRNA(Val)deficiency Mit MT-TV 59010574.DisordersofmitochondrialtRNAincorporationandrecyclingMitochondrialalanyl-tRNAsynthetasedeficiency

Combinedoxidativephosphorylationdeficiencytype8;progressiveleukoencephalopathywithovarianfailure

AR AARS2 612035

Mitochondrialarginine-tRNAsynthetasedeficiency

Pontocerebellarhypoplasiatype6 AR RARS2 611524

Mitochondrialasparaginyl-tRNAsynthetasedeficiency

Combinedoxidativephosphorylationdeficiencytype24

AR NARS2 612803

Mitochondrialaspartyl-tRNAsynthetasedeficiency

Leukoencephalopathywithbrainstemandspinalcordinvolvementandlactateelevation

AR DARS2 610956

Mitochondrialcysteinyl-tRNAsynthetasedeficiency

Combinedoxidativephosphorylationdeficiencytype27

AR CARS2 612800

Mitochondrialglutamyl-tRNAsynthetasedeficiency

Combinedoxidativephosphorylationdeficiencytype12

AR EARS2 612799

Mitochondrialhistidyl-tRNAsynthetasedeficiency

Perraultsyndrometype2 AR HARS2 600783

Mitochondrialisoleucyl-tRNAsynthetasedeficiency

Cataracts,growthhormonedeficiency,sensoryneuropathy,sensorineuralhearingloss,andskeletaldysplasia(CAGSSS)

AR IARS2 612801

Mitochondrialleucyl-tRNAsynthetasedeficiency

Perraultsyndrometype4 AR LARS2 604544

Mitochondrialmethionyl-tRNAsynthetasedeficiency

Autosomalrecessivespasticataxiatype3 AR MARS2 609728

Mitochondrialphenylalanyl-tRNAsynthetasedeficiency

Combinedoxidativephosphorylationdeficiencytype14;autosomalrecessivespasticparaplegiatype77

AR FARS2 611592

Mitochondrialprolyl-tRNAsynthetasedeficiency

AR PARS2 612036

Mitochondrialseryl-tRNAsynthetasedeficiency

Hyperuricemia,pulmonaryhypertension,renalfailure,andalkalosis(HUPRA)

AR SARS2 612804

Mitochondrialtyrosyl-tRNAsynthetasedeficiency

Myopathy,lacticacidosis,andsideroblasticanemiatype2

AR YARS2 610957

Mitochondrialvalyl-tRNAsynthetasedeficiency

Combinedoxidativephosphorylationdeficiencytype20

AR VARS2 612802

Mitochondrialtryptophanyl-tRNAsynthetasedeficiency

Mitochondrialneurodevelopmentaldisorderwithabnormalmovementsandlacticacidosis,withorwithoutseizures

AR WARS2 604733

Mitochondrialandcytoplasmicglycil-tRNAsynthetasedeficiency

Charcot-Marie-Toothdiseasetype2D;distalhereditarymotorneuronopathytype5A

AD GARS 600287

Mitochondrialandcytoplasmiclysyl-tRNAsynthetasedeficiency

AR KARS 601421

Mitochondrialglutamyl-tRNA(Gln)amidotransferasesubunitAdeficiency

AR QRSL1 617209

Mitochondrialglutamyl-tRNA(Gln)amidotransferasesubunitCdeficiency

AR GATC 617210

Peptidyl-tRNAhydrolase2deficiency Infantile-onsetmultisystemneurologic,endocrine,andpancreaticdisease

AR PTRH2 608625

75.DisordersofmitochondrialfissionDynamin-likeprotein1deficiency Opticatrophytype5;encephalopathydueto

defectivemitochondrialandperoxisomalfissiontype1

AD,AR DNM1L 603850

Mitochondrialfissionfactordeficiency Encephalopathyduetodefectivemitochondrialandperoxisomalfissiontype2

AR MFF 614785

GDAP1deficiency AxonalCharcot-Marie-Toothtype2K;demyelinatingCharcot-Marie-Toothdiseasetype4A

AD,AR GDAP1 606598

STAT2deficiency Immunodeficiencytype44 AR STAT2 600556UGO-1likeproteindeficiency Hereditarymotorandsensoryneuropathytype6B;

pontocerebellarhypoplasiaAR SLC25A46 610826

76.Disordersofmitochondrialfusion

OPA1deficiency Opticatrophytype1(dominant);Behrsyndrome(recessive)

AD,AR OPA1 605290

OPA3deficiency Opticatrophytype3(dominant);3-methylglutaconicaciduriatype3,Costeffsyndrome(recessive)

AD,AR OPA3 606580

Mitofusin2deficiency AxonalCharcot-Marie-Toothtype2A2 AD,AR MFN2 608507MSTO1deficiency Mitochondrialmyopathyandataxia AD,AR MSTO1 61761977.DisordersofmitochondrialphospholipidmetabolismAcylglycerolkinasedeficiency Sengerssyndrome AR AGK 610345SERAC1deficiency 3-methylglutaconicaciduriawithdeafness,

encephalopathy,andLeigh-likesyndrome(MEGDEL)AR SERAC1 614725

Tafazindeficiency Barthsyndrome XLR TAZ 300394PNPLA8deficiency Mitochondrialmyopathywithlacticacidosis

AR PNPLA8 612123

78.DisordersofmitochondrialproteinimportDNAJC19deficiency Dilatedcardiomyopathywithataxia(DCMA

syndrome);3-methylglutaconicaciduriatype5AR DNAJC19 608977

TIMM8Adeficiency Mohr-Tranebjaergsyndrome XLR TIMM8A 300356TIMMDC1deficiency AR TIMMDC1 615534TIMM50deficiency 3-methylglutaconicaciduriatype9 AR TIMM50 607381GFERdeficiency AR GFER 600924MAGMASdeficiency Spondylometaphysealdysplasia,Megarbane-Dagher-

MeliketypeAR PAM16 614336

Seealso:Acylglycerolkinasedeficiencyingroup77.79.DisordersofmitochondrialproteinqualitycontrolMitochondrialprocessingpeptidaseαdeficiency

Autosomalrecessivespinocerebellarataxiatype2 AR PMPCA 613036

Mitochondrialprocessingpeptidaseβdeficiency

AR PMPCB 603131

Mitochondrialintermediatepeptidasedeficiency

Combinedoxidativephosphorylationdeficiencytype31

AR MIPEP 602241

CLPBdeficiency 3-methylglutaconicaciduriatype7,withcataracts,neurologicinvolvementandneutropenia

AR CLPB 616254

CLPPdeficiency Perraultsyndrometype3 AR CLPP 601119LONP1deficiency Cerebral,ocular,dental,auricular,and

skeletal(CODAS)syndromeAR LONP1 605490

HSPA9deficiency Sideroblasticanemiatype4;epiphyseal,vertebral,ear,nose,plusassociatedmalformations(EVEN-plus)syndrome

AR HSPA9 600548

HSP60deficiency Hypomyelinatingleukodystrophytype4(recessive);autosomaldominantspasticparaplegiatype13

AD,AR HSPD1 118190

Sacsindeficiency AutosomalrecessivespasticataxiaofCharlevoix-Saguenay

AR SACS 604490

m-AAAproteaseAFG3L2subunitdeficiency

Autosomalrecessivespasticataxiatype5;spinocerebellarataxiatype28

AR AFG3L2 604581

Paraplegindeficiency Spasticparaplegiatype7 AD,AR SPG7 602783HTRA2deficiency 3-methylglutaconicaciduriatype8 AR HTRA2 606441Parkindeficiency Early-onsetParkinsondiseasetype2 AR PRKN 602544PINK1deficiency Early-onsetParkinsondiseasetype6 AR PINK1 608309USP9Xdeficiency X-linkedmentalretardationtype99 XL USP9X 300072Valosin-containingproteinsuperactivity Inclusionbodymyopathywithearly-onsetPaget

diseaseandfrontotemporaldementiatype1AD VCP 601023

Pitrilysinmetallopeptidase1deficiency AR PITRM1 -Seealso:X-prolylaminopeptidase3deficiencyingroup16.80.OtherdisordersofmitochondrialhomeostasisMitochondrialinorganicpyrophosphatase2deficiency

AR PPA2 609988

Sideroflexin4deficiency Combinedoxidativephosphorylationdeficiencytype18

AR SFXN4 615564

AIFM1deficiency Combinedoxidativephosphorylationdeficiencytype6;Cowchocksyndrome

XLR AIFM1 300169

ATAD3Adeficiency Harel-Yoonsyndrome AD,AR ATAD3A 612316Transmembraneprotein126Adeficiency Opticatrophytype7 AR TMEM126A 612988C1qbindingproteindeficiency Combinedoxidativephosphorylationdeficiencytype

33AR C1QBP 601269

Traffickingkinesin-bindingprotein1deficiency

AR TRAK1 608112

Mitochondrialcalciumuniporterdeficiency

Myopathywithextrapyramidalsigns AR MICU1 605084

Nogo-interactingmitochondrialproteindeficiency

Opticatrophytype10 AR RTN4IP1 610502

MICOScomplexsubunitMIC13deficiency QIL1deficiency AR C19orf70 616658CHCHD10deficiency AD CHCHD10 615903Seealso:Thorasedeficiencyingroup20.81.PrimaryCoQ10deficienciesPrenyldiphosphatesynthasesubunit1deficiency

PrimarycoenzymeQ10deficiencytype2 AR PDSS1 607429

Prenyldiphosphatesynthasesubunit2deficiency

PrimarycoenzymeQ10deficiencytype3 AR PDSS2 610564

COQ2deficiency PrimarycoenzymeQ10deficiencytype1 AR COQ2 609825COQ4deficiency PrimarycoenzymeQ10deficiencytype7 AR COQ4 612898COQ6deficiency PrimarycoenzymeQ10deficiencytype6 AR COQ6 614647COQ7deficiency PrimarycoenzymeQ10deficiencytype8 AR COQ7 601683COQ8Adeficiency PrimarycoenzymeQ10deficiencytype4;ADCK3

deficiencyAR COQ8A 606980

COQ8Bdeficiency Nephroticsyndrometype9;ADCK4deficiency AR COQ8B 615567COQ9deficiency PrimarycoenzymeQ10deficiencytype5 AR COQ9 612837

E.DISORDERSOFLIPIDS82.DisordersofcarnitinemetabolismPrimarycarnitinedeficiency AR SLC22A5 603377Carnitinepalmitoyltransferase1Adeficiency

AR CPT1A 600528

Carnitinepalmitoyltransferase2deficiency

AR CPT2 600650

Carnitine-acylcarnitinetranslocasedeficiency

AR SLC25A20 613698

ε-N-trimethyllysinehydroxylasedeficiency

XLR TMLHE 300777

83.DisordersoffattyacidoxidationandtransportShort-chainacyl-CoAdehydrogenasedeficiency

AR ACADS 606885

Medium-chainacyl-CoAdehydrogenasedeficiency

AR ACADM 607008

Verylong-chainacyl-CoAdehydrogenasedeficiency

AR ACADVL 609575

Short-chain3-hydroxyacyl-CoAdehydrogenasedeficiency

Familialhyperinsulinemichypoglycemiatype4 AR HADH 601609

Trifunctionalproteinαsubunitdeficiency Long-chainhydroxyacyl-CoAdehydrogenaseorcompletemitochondrialtrifunctionalproteindeficiency

AR HADHA 600890

Trifunctionalproteinβsubunitdeficiency Completemitochondrialtrifunctionalproteindeficiency

AR HADHB 143450

Fattyacidtransportprotein4deficiency Ichthyosisprematuritysyndrome AR SLC27A4 604194Docosahexanoicacidtransporterdeficiency

Autosomalrecessiveprimarymicrocephalytype15 AR MFSD2A 614397

TANGO2deficiency Metabolicencephalomyopathiccrisesassociatedwithrhabdomyolysis,cardiacarrhythmias,andneurodegeneration(MECRCN)

AR TANGO2 616830

Seealso:ACAD9deficiencyingroup59.84.DisordersofketonebodymetabolismMitochondrial3-hydroxy-3-methylglutaryl-CoAsynthasedeficiency

AR HMGCS2 600234

Succinyl-CoA:3-oxoacid-CoAtransferasedeficiency

AD,AR OXCT1 601424

Mitochondrialacetoacetyl-CoAthiolasedeficiency

β-ketothiolasedeficiency;α-methylacetoaceticaciduria

AR ACAT1 607809

Monocarboxylatetransporter1deficiency AD,AR SLC16A1 600682Monocarboxylatetransporter1superactivity

Familialhyperinsulinemichypoglycemiatype7 AD SLC16A1 600682

Seealso:3-Hydroxy-3-methylglutaryl-CoAlyasedeficiencyingroup14.85.DisordersoffattyacidsynthesisandelongationMitochondrialenoyl-CoAreductasedeficiency

Mitochondrialenoyl-CoAreductaseprotein-associatedneurodegeneration(MEPAN)

AR MECR 608205

Verylong-chainfattyacidelongase1deficiency

Ichthyotickeratoderma,spasticity,hypomyelinationanddysmorphicfeatures(IKSHD)

AD ELOVL1 611813

Verylong-chainfattyacidelongase4deficiency,neurologicphenotype

Pseudo-Sjögren-Larssonsyndrome(recessive);spinocerebellarataxiatype34(dominant)

AD,AR ELOVL4 605512

Verylong-chainfattyacidelongase4deficiency,retinalphenotype

Stargardtdiseasetype3 AD ELOVL4 605512

Verylong-chainfattyacidelongase5deficiency

Spinocerebellarataxiatype38 AD ELOVL5 611805

86.DisordersofthefattyalcoholcycleFattyaldehydedehydrogenasedeficiency Sjögren-Larssonsyndrome AR ALDH3A2 609523Seealso:Fattyacyl-CoAreductase1(FAR1)deficiencyingroup109.87.DisordersofglycerolmetabolismGlycerolkinasedeficiency XLR GK 300474D-glyceratekinasedeficiency D-glycericaciduria AR GLYCTK 610516Aquaporin7deficiency Hyperglyceroluriawithmildplateletsecretiondefect AR AQP7 602974Seealso:Cytosolicglycerol-3-phosphatedehydrogenasedeficiencyingroup57.88.DisordersofintracellulartriglyceridemetabolismLong-chainfattyacid-CoAligase4deficiency

X-linkedmentalretardation63 XL ACSL4 300157

Lysophosphatidicacidacyltransferasedeficiency

Congenitalgeneralizedlipodystrophytype1,Berardinelli-Seipsyndrome

AR AGPAT2 603100

Lipin1deficiency AR LPIN1 605518Lipin2deficiency Majeedsyndrome AR LPIN2 605519Diacylglycerolacyltransferasedeficiency Congenitaldiarrheatype7 AR DGAT1 604900CGI-58deficiency Chanarin-Dorfmansyndrome;neutrallipidstorage

diseasewithichthyosisAR ABHD5 604780

Adiposetriglyceridelipasedeficiency Neutrallipidstoragediseasewithmyopathy AR PNPLA2 609059Perilipin1deficiency Familialpartiallipodystrophytype4 AD PLIN1 170290Hormone-sensitivelipasedeficiency Familialpartiallipodystrophytype6 AR LIPE 151750Seipindeficiency Congenitalgeneralizedlipodystrophytype2

(Berardinelli-Seipsyndrometype2);progressiveencephalopathywithorwithoutlipodystrophy(Celia'sencephalopathy)

AR BSCL2 606158

Seipinsuperactivity Silversyndrome(spasticparaplegia17);distalhereditarymotorneuropathytype5

AD BSCL2 606158

89.Disordersofnon-mitochondrialphospholipidmetabolismEthanolaminephosphotransferase1deficiency

AR SELENOI 607915

Cholinekinaseβdeficiency Congenitalmusculardystrophy,megaconialtype AR CHKB 612395Phosphocholinecytidylyltransferase1αdeficiency,retinoskeletalphenotype

AR PCYT1A 123695

Phosphocholinecytidylyltransferase1αdeficiency,lipodystrophyphenotype

AR PCYT1A 123695

Phosphatidylserinesynthase1superactivity

Lenz-Majewskisyndrome AD PTDSS1 612792

Phosphatidylserineflippasedeficiency Cerebellarataxia,mentalretardation,anddysequilibriumsyndrometype4

AR ATP8A2 605870

Lysophosphatidylinositolacyltransferase1deficiency

AR MBOAT7 606048

PhospholipaseA2group6deficiency Infantileneuroaxonaldystrophy;Seitelbergerdisease;neurodegenerationwithbrainironaccumulationtype2B

AR PLA2G6 603604

DDHD1deficiency Autosomalrecessivespasticparaplegiatype28 AR DDHD1 614603DDHD2deficiency Autosomalrecessivespasticparaplegiatype54 AR DDHD2 615003PNPLA6deficiency Autosomalrecessivespasticparaplegiatype39;

Oliver-McFarlanesyndrome;Boucher-Neuhausersyndrome;Laurence-Moonsyndrome

AR PNPLA6 603197

ABHD12deficiency Polyneuropathy,hearingloss,ataxia,retinitispigmentosa,andcataract(PHARC)syndrome,

AR ABHD12 613599

CYP2U1deficiency Autosomalrecessivespasticparaplegiatype56 AR CYP2U1 610670Diacylglycerolkinaseεdeficiency Nephroticsyndrometype7;atypicalhemolytic

uremicsyndrometype7AR DGKE 601440

LipaseHdeficiency Membrane-associatedphosphatidicacid-selectivephospholipaseA1(MPAPLA1)deficiency;autosomalrecessivewoolyhairtype2;hypotrichosistype7

AR LIPH 607365

Lysophosphatidicacidreceptor6deficiency

Autosomalrecessivewoolyhairtype1;hypotrichosistype8

AR LPAR6 609239

Seealso:Lipin1andlipin2deficienciesingroup88.90.Disordersofnon-lysosomalsphingolipidmetabolismSerinepalmitoyltransferasesubunit1deficiency

Hereditarysensoryandautonomicneuropathytype1A

AD SPTLC1 605712

Serinepalmitoyltransferasesubunit2deficiency

Hereditarysensoryandautonomicneuropathytype1C

AD SPTLC2 605713

Ceramidesynthase3deficiency Autosomalrecessivecongenitalichthyosistype9 AR CERS3 615276CYP4F22omegahydroxylasedeficiency Autosomalrecessivecongenitalichthyosistype5 AR CYP4F22 611495Acylceramidetransacylasedeficiency Autosomalrecessivecongenitalichthyosistype10 AR PNPLA1 612121

Nonlysosomalglucosylceramidasedeficiency

Autosomalrecessivespasticparaplegiatype46 AR GBA2 609471

Fattyacid2-hydroxylasedeficiency Autosomalrecessivespasticparaplegiatype35;fattyacidhydroxylase-associatedneurodegeneration(FAHN)

AR FA2H 611026

Sphingosine-1-phosphatelyasedeficiency AR SGPL1 603729Ceramidetransferproteinsuperactivity Autosomaldominantmentalretardationtype34 AD COL4A3BP 604677Seealso:3-phosphoglyceratedehydrogenase,phosphoserinephosphatase,andphosphoserinephosphatasedeficienciesingroup23;GM3synthase,GM2/GD2synthase,andGB3synthasedeficienciesingroup123.91.DisordersofeicosanoidmetabolismThromboxanesynthasedeficiency Ghosalhematodiaphysealsyndrome AR TBXAS1 27418015-hydroxyprostaglandindehydrogenasedeficiency

Primaryhypertrophicosteoarthropathytype1 AR HPGD 601688

Prostaglandintransporterdeficiency Primaryhypertrophicosteoarthropathytype2 AR SLCO2A1 601460CytosolicphospholipaseA2αdeficiency Cryptogenicmultifocalulceratingstenosingenteritis

(CMUSE)AR PLA2G4A 600522

92.DisordersofpalmitoylationZDHHC9palmitoyltransferasedeficiency X-linkedmentalretardation,Raymondtype XLR ZDHHC9 300646Porcupinepalmitoyltransferasedeficiency

Goltzsyndrome,focaldermalhypoplasia XLD PORCN 300651

Palmitoyl-proteinthioesterase1deficiency

CLN1disease;Santavuori-Haltiadisease AR PPT1 600722

93.DisordersofphosphoinositidemetabolismPhosphatidylinositol3,5-bisphosphate-5-phosphatasedeficiency,neurologicphenotype

Amyotrophiclateralsclerosistype11(dominant);Charcot-Marie-Toothdiseasetype4J(recessive)

AD,AR FIG4 609390

Phosphatidylinositol3,5-bisphosphate-5-phosphatasedeficiency,neuroskeletalphenotype

Yunis-Varonsyndrome AR FIG4 609390

Phosphatidylinositol4,5-bisphosphate-5-phosphatasedeficiency

Lowesyndrome,Dentdiseasetype2 XLR OCRL 300535

Synaptojanin1deficiency Earlyinfantileepilepticencephalopathytype53;early-onsetParkinsondiseasetype20

AR SYNJ1 604297

Myotubularin1deficiency X-linkedmyotubularmyopathy XLR MTM1 300415Myotubularin-relatedprotein2deficiency Charcot-Marie-Toothdiseasetype4B1 AR MTMR2 603557

Myotubularin-relatedprotein2regulatoryproteindeficiency

Charcot-Marie-Toothdiseasetype4B2 AR SBF2 607697

Myotubularin-relatedprotein2activatordeficiency

Charcot-Marie-Toothdiseasetype4B3 AR SBF1 603560

Catalyticphosphatidylinositol3-kinaseαsubunitsuperactivity

AD,somatic PIK3CA 171834

Catalyticphosphatidylinositol3-kinaseδsubunitsuperactivity

Immunodeficiencytype14 AD PIK3CD 602839

Phosphatidylinositol3-kinaseregulatorysubunit1deficiency

SHORTsyndrome,immunodeficiencytype36 AD PIK3R1 171833

Phosphatidylinositol3-kinaseregulatorysubunit2superactivity

Megalencephaly-polymicrogyria-polydactyly-hydrocephalussyndrometype1

AD PIK3R2 603157

Phosphatidylinositol-3-phosphate5-kinasedeficiency

Cornealfleckdystrophy AD PIKFYVE 609414

Phosphatidylinositol4-phosphate5-kinasedeficiency

Lethalcongenitalcontracturalsyndrometype3 AR PIP5K1C 606102

Phosphatidylinositol3,4,5-trisphosphate3-phosphatasedeficiency

PTENhamartomatumorsyndrome AD PTEN 601728

Phosphatidylinositol3,4,5-trisphosphate5-phosphatasedeficiency

Opsismodysplasia AR INPPL1 600829

Inositolpolyphosphate5-phosphatasedeficiency

Joubertsyndrometype1 AR INPP5E 613037

Inositolpolyphosphate5-phosphataseKdeficiency

Congenitalmusculardystrophywithcataractsandintellectualdisability

AR INPP5K 607875

Phosphatidylinositol4,5-bisphosphatephospholipaseCβ1deficiency

Earlyinfantileepilepticencephalopathytype12 AR PLCB1 607120

Phosphatidylinositol4,5-bisphosphatephospholipaseCβ4deficiency

Auriculocondylarsyndrometype2 AD,AR PLCB4 600810

Phosphatidylinositol4,5-bisphosphatephospholipaseCγ2deficiency

AutoinflammationandPLCG2-associatedantibodydeficiencyandimmunedysregulation(APLAID);familialcoldautoinflammatorysyndrometype3

AD PLCG2 600220

Phosphatidylinositol4,5-bisphosphatephospholipaseCδ1deficiency

Nonsyndromiccongenitalnaildisordertype3;leukonychiatotalisand/orpartialis

AD,AR PLCD1 602142

Phosphatidylinositol4,5-bisphosphatephospholipaseCε1deficiency

Nephroticsyndrometype3 AR PLCE1 608414

Inositol1,4,5-triphosphatereceptortype1deficiency

Gillespiesyndrome;congenitalnon-progressivecerebellarataxia;spinocerebellarataxiatype15

AD,AR ITPR1 147265

94.DisordersoflipoproteinmetabolismLDLreceptordeficiency Familialhypercholesterolemia AD,AR LDLR 606945LDLreceptoradaptorprotein1deficiency AR LDLRAP1 605747Hypercholesterolemiaduetoligand-defectiveapoB

AD APOB 107730

ApolipoproteinBdeficiency Familialhypobetalipoproteinemiatype1;normotriglyceridemichypobetalipoproteinemia

AR APOB 107730

PCSK9superactivity Familialhypercholesterolemiatype3 AD PCSK9 607786PCSK9deficiency AD PCSK9 607786STAP1deficiency Familialhypercholesterolemiatype4 AD STAP1 604298SitosterolemiaduetoABCG5deficiency AR ABCG5 605459SitosterolemiaduetoABCG8deficiency AR ABCG8 605460Angiopoietin-like3deficiency Familialhypobetalipoproteinemiatype2;combined

familialhypolipidemiaAR ANGPTL3 604774

Microsomaltriglyceridetransferproteindeficiency

Abetalipoproteinemia AR MTTP 157147

Chylomicronretentiondisease Andersondisease AR SAR1B 607690ApolipoproteinEdeficiency Dysbetalipoproteinemia;hyperlipoproteinemiatype

3AR APOE 107741

ApolipoproteinEsuperactivity Inheritedlipemicsplenomegaly;sea-bluehistiocytosis

AD APOE 107741

Lipoproteinglomerulopathy AD APOE 107741Lipoproteinlipasedeficiency Hyperlipoproteinemiatype1A AR LPL 609708ApolipoproteinC2deficiency Hyperlipoproteinemiatype1B AR APOC2 608083GPIHBP1deficiency Hyperlipoproteinemiatype1D AR GPIHBP1 612757Hepaticlipasedeficiency AR LIPC 151670Lipasematurationfactor1deficiency Combinedlipasedeficiency AR LMF1 611761ApolipoproteinA5deficiency Late-onsethyperchylomicronemia;

hyperlipoproteinemiatype5AD APOA5 606368

Lecithin:cholesterolacyltransferasedeficiency

Norumdisease(severe);fish-eyedisease(milder) AR LCAT 606967

Tangierdisease Analphalipoproteinemia AR ABCA1 600046ApolipoproteinA1deficiency Hypoalphalipoproteinemia AD APOA1 107680

HereditaryapolipoproteinA1-relatedamyloidosis

AD APOA1 107680

Cholesterylestertransferproteindeficiency

Hyperalphalipoproteinemiatype1 AD CETP 118470

ApolipoproteinC3deficiency Hyperalphalipoproteinemiatype2 AD APOC3 107720SCARB1deficiency AD,AR SCARB1 601040Congenitallipoprotein(a)deficiency AD,AR LPA 15220095.DisordersofcholesterolbiosynthesisMevalonatekinasedeficiency Mevalonicaciduria(severe);hyper-IgDsyndrome

(milder)AR MVK 251170

Mevalonatekinasedeficiency,porokeratosisphenotype

Porokeratosistype3 AD MVK 251170

Phosphomevalonatekinasedeficiency Porokeratosistype1 AD PMVK 607622Mevalonatepyrophosphatedecarboxylasedeficiency

Porokeratosistype7 AD MVD 603236

Farnesyldiphosphatesynthasedeficiency Porokeratosistype9 AD FDPS 134629Squalenesynthasedeficiency Farnesyldiphosphatefarnesyltransferase1deficiency AR FDFT1 184420Lanosterolsynthasedeficiency 2,3-oxidosqualene-lanosterolcyclasedeficiency;

cataracttype44(C-terminal);hypotrichosistype14(N-terminal)

AR LSS 600909

SterolC14reductasedeficiency Hydrops-ectopiccalcification-moth-eaten(HEM)dysplasia,Greenbergdysplasia(recessive);Pelger-Huëtanomaly(dominant)

AD,AR LBR 600024

Sterol-C4-methyloxidasedeficiency Microcephaly,congenitalcataract,andpsoriasiformdermatitis

AR MSMO1 607545

X-linkeddominantsterol-4-α-carboxylate3-dehydrogenasedeficiency

Congenitalhemidysplasiawithichythyosiformerythrodermaandlimbdefects(CHILD)syndrome

XLD NSDHL 300275

X-linkedrecessivesterol-4-α-carboxylate3-dehydrogenasedeficiency

CKsyndrome XLR NSDHL 300275

X-linkeddominantsterolΔ8-Δ7isomerasedeficiency

X-linkeddominantchondrodysplasiapunctatatype2;Conradi-Hünermann-Happlesyndrome

XLD EBP 300205

X-linkedrecessivesterolΔ8-Δ7isomerasedeficiency

MaleEBPdisorderwithneurologicdefects(MENDsyndrome)

XLR EBP 300205

SterolΔ5-desaturasedeficiency Lathosterolosis AR SC5D 602286

24-dehydrocholesterolreductasedeficiency

Desmosterolosis AR DHCR24 606418

7-dehydrocholesterolreductasedeficiency

Smith-Lemli-Opitzsyndrome;RSHsyndrome AR DHCR7 602858

96.Disordersofsteroidmetabolism21-hydroxylasedeficiency AR CYP21A2 61381511-β-hydroxylasedeficiency AR CYP11B1 61061311-β-hydroxylasesuperactivity Glucocorticoidremediablealdosteronism;familial

hyperaldosteronismtype1AD CYP11B1 610613

3-β-hydroxysteroiddehydrogenasedeficiency

AR HSD3B2 613890

17-hydroxylase/17,20-lyasedeficiency AR CYP17A1 609300Steroidogenicacuteregulatoryproteindeficiency

Lipoidadrenalhyperplasia AR STAR 600617

CytochromeP450oxidoreductasedeficiency

AR POR 124015

Steroid18-hydroxylasedeficiency Aldosteronesynthasedeficiency;corticosteronemethyloxidasetype1deficiency

AR CYP11B2 124080

Steroid18-oxidasedeficiency Corticosteronemethyloxidasetype2deficiency AR CYP11B2 124080Hexose-6-phosphatedehydrogenasedeficiency

Cortisonereductasedeficiencytype1 AR H6PD 138090

11-β-hydroxysteroiddehydrogenasedeficiency

Cortisonereductasedeficiencytype2 AD HSD11B1 600713

Glucocorticoidreceptordeficiency Glucocorticoidresistance AD NR3C1 138040Mineralocorticoidreceptordeficiency Autosomaldominantpseudohypoaldosteronismtype

1AD NR3C2 600983

ACTHreceptordeficiency Melanocortin-2receptordeficiency;hereditaryglucocorticoiddeficiencytype1

AR MC2R 607397

Melanocortin-2receptoraccessoryproteindeficiency

Hereditaryglucocorticoiddeficiencytype2 AR MRAP 609196

Aromatasedeficiency AR CYP19A1 107910Aromatasesuperactivity AD CYP19A1 107910Estrogenreceptordeficiency Estrogenresistance AR ESR1 133430Estrogenreceptor2deficiency AD,AR ESR2 601663Side-chaincleavageenzymedeficiency Desmolasedeficiency AR CYP11A1 118485

17-β-hydroxysteroiddehydrogenasedeficiency

17-ketosteroidreductasedeficiency;malepseudohermaphroditismwithgynecomastia

AR HSD17B3 605573

3-α-hydroxysteroiddehydrogenasetype3deficiency

AR AKR1C2 600450

11-β-hydroxysteroiddehydrogenasetype2deficiency

Apparentmineralocorticoidexcess AR HSD11B2 614232

Steroid5-α-reductase2deficiency AR SRD5A2 607306Androgenreceptordeficiency Androgeninsensitivitysyndrome XLR AR 313700X-linkedspinalandbulbarmuscularatrophy

Kennedydisease XLR AR 313700

Hydroxysteroidsulfotransferasedeficiency

Autosomalrecessivecongenitalichthyosistype14 AR SULT2B1 604125

Steroidsulfatasedeficiency X-linkedichthyosis XLR STS 300747Chloridechannel2superactivity Familialhyperaldosteronismtype2 AD CLCN2 600570Seealso:Cytochromeb5deficiencyingroup98.97.Disordersofbileacidsynthesis3β-Hydroxy-Δ5-C27-steroidoxidoreductasedeficiency

Congenitalbileacidsynthesisdefecttype1 AR HSD3B7 607764

Δ4-3-oxosteroid5β-reductasedeficiency Congenitalbileacidsynthesisdefecttype2 AR AKR1D1 604741Oxysterol7α-hydroxylasedeficiency Congenitalbileacidsynthesisdefecttype3;

autosomalrecessivespasticparaplegiatype5AAR CYP7B1 603711

Sterol27-hydroxylasedeficiency Cerebrotendinousxanthomatosis AR CYP27A1 606530α-methylacyl-CoAracemasedeficiency Congenitalbileacidsynthesisdefecttype4 AR AMACR 604489Peroxisomalbranched-chainacyl-CoAoxidasedeficiency

Congenitalbileacidsynthesisdefecttype6 AR ACOX2 601641

Bileacid-CoA:aminoacidN-acyltransferasedeficiency

AR BAAT 602938

F.DISORDERSOFTETRAPYRROLES98.Disordersofhememetabolismδ-aminolevulinicacidsynthasedeficiency X-linkedrecessivesideroblasticanemiatype1 XLR ALAS2 301300δ-aminolevulinicacidsynthasesuperactivity

X-linkedprotoporphyria XLD ALAS2 301300

δ-aminolevulinicaciddehydratasedeficiency

AR ALAD 125270

Porphobilinogendeaminasedeficiency Acuteintermittentporphyria AD,AR HMBS 609806

UroporphyrinogenIIIsynthasedeficiency Congenitalerythropoieticporphyria;Guntherdisease AR UROS 606938Uroporphyrinogendecarboxylasedeficiency

Porphyriacutaneatardatype2(dominant);hepatoerythropoieticporphyria(recessive)

AD,AR UROD 613521

Coproporphyrinogenoxidasedeficiency Hereditarycoproporphyria AD CPOX 612732Harderoporphyria AR CPOX 612732Protoporphyrinogenoxidasedeficiency Variegateporphyria AD,AR PPOX 600923Ferrochelatasedeficiency Erythropoieticprotoporhyria AR FECH 612386GATA1deficiency XLR GATA1 305371Mitochondrialporphyrintransporterdeficiency

Familialpseudohyperkalemiatype2;dyschromatosisuniversalishereditariatype3

AD ABCB6 605452

NADH-cytochromeb5reductasedeficiency

NADHdiaphorasedeficiency;congenitalmethemoglobinemia

AR CYB5R3 613213

Cytochromeb5deficiency AR CYB5A 613218Hemeoxygenase1deficiency AR HMOX1 141250Biliverdinreductaseαdeficiency Hyperbiliverdinemia AD,AR BLVRA 10975099.DisordersofbilirubinmetabolismandbiliarytransportUDP-glucuronosyltransferaseA1deficiency

Crigler-Najjarsyndrome(severe);Gilbertsyndrome(milder)

AR UGT1A1 191740

Canalicularbilirubinglucuronidetransporterdeficiency

Dubin-Johnsonsyndrome AR ABCC2 601107

Rotorsyndrome Digenic SLCO1B1+SLCO1B3

604843+605495

Phosphatidylserinetranslocatordeficiency

Progressivefamilialintrahepaticcholestasistype1(severe);benignrecurrentintrahepaticcholestasistype1(milder)

AR ATP8B1 602397

Bilesaltexportpumpdeficiency Progressivefamilialintrahepaticcholestasistype2(severe);benignrecurrentintrahepaticcholestasistype2(milder)

AR ABCB11 603201

Phosphatidylcholinetranslocatordeficiency

Progressivefamilialintrahepaticcholestasistype3(severe);lowphospholipid-associatedcholelithiasis(milder)

AD,AR ABCB4 171060

Bileacidreceptordeficiency Progressivefamilialintrahepaticcholestasistype5 AR NR1H4 603826Sodium-taurocholatecotransportingpolypeptide(NTCP)deficiency

AR SLC10A1

182396

Apicalbilesalttransporterdeficiency Primarybileacidmalabsorption AR SLC10A2 601295

Seealso:Disordersofcobalaminmetabolism(group26).G.STORAGEDISORDERS

100.DisordersofautophagyEPG5deficiency Vicisyndrome AR EPG5 615068WDR45deficiency Neurodegenerationwithbrainironaccumulation

type5;staticencephalopathyofchildhoodwithneurodegenerationinadulthood(SENDA);β-propellerprotein-associatedneurodegeneration(BPAN)

XLD WDR45 300526

SNX14deficiency Autosomalrecessivespinocerebellarataxiatype20 AR SNX14 616105Spatacsindeficiency Autosomalrecessivespasticparaplegiatype11;

axonalCharcot-Marie-Toothdiseasetype2X;juvenileamyotrophiclateralsclerosistype5

AR SPG11 610844

Spastizindeficiency Autosomalrecessivespasticparaplegiatype15;Kjellinsyndrome

AR ZFYVE26 612012

Adaptor-relatedproteincomplex5ζ-1subunitdeficiency

Autosomalrecessivespasticparaplegiatype48 AR AP5Z1 613653

TECPR2deficiency Autosomalrecessivespasticparaplegiatype49 AR TECPR2 615000TBK1deficiency Frontotemporaldementiaand/oramyotrophic

lateralsclerosistype4AD TBK1 604834

RAB7deficiency Charcot-Marie-Toothdiseasetype2B AD RAB7A 602298101.NeuronalceroidlipofuscinosisTripeptidyl-peptidase1deficiency CLN2disease,Jansky-Bielchowskydisease(severe);

autosomalrecessivespinocerebellarataxiatype7(milder)

AR TPP1 607998

CLN3disease Vogt-Spielmeyerdisease AR CLN3 607042CLN4disease AutosomaldominantKufsdisease AD DNAJC5 611203CLN5disease AR CLN5 608102CLN6disease AutosomalrecessiveKufsdiseasetypeA AR CLN6 606725CLN7disease Maculardystrophywithcentralconeinvolvement

(milder)AR MFSD8 611124

CLN8disease AR CLN8 607837CathepsinDdeficiency CLN10disease AR CTSD 116840Progranulindeficiency FrontotemporallobardegenerationwithTDP-43

inclusions(dominant);CLN11disease(recessive)AD,AR GRN 138945

ATP13A2deficiency CLN12disease;Kufor-Rakebsyndrome;Parkinsondiseasetype9;autosomalrecessivespasticparaplegiatype78

AR ATP13A2 610513

CathepsinFdeficiency AutosomalrecessiveKufsdiseasetypeB AR CTSF 603539CLN14disease Progressivemyoclonicepilepsytype3 AR KCTD7 611725Seealso:Palmitoyl-proteinthioesterase1deficiencyingroup92.102.Sphingolipidoses Glucocerebrosidasedeficiency Gaucherdisease AR GBA 606463AtypicalGaucherdiseaseduetosaposinCdeficiency

AR PSAP 176801

Acidsphingomyelinasedeficiency Niemann-PicktypeA(severe);Niemann-PicktypeB(milder)

AR SMPD1 607608

β-galactosidasedeficiency,GM1gangliosidosisphenotype

AR GLB1 611458

β-hexosaminidaseα-subunitdeficiency GM2gangliosidosis,Bvariant(Tay-Sachsdisease) AR HEXA 606869β-hexosaminidaseβ-subunitdeficiency GM2gangliosidosis,Ovariant(Sandhoffdisease) AR HEXB 606873GM2activatorproteindeficiency GM2gangliosidosis,ABvariant AR GM2A 613109β-galactosylceramidasedeficiency Globoidcellleukodystrophy;Krabbedisease AR GALC 245200AtypicalKrabbediseaseduetosaposinAdeficiency

AR PSAP 176801

ArylsulfataseAdeficiency Metachromaticleukodystrophy AR ARSA 607574MetachromaticleukodystrophyduetosaposinBdeficiency

AR PSAP 176801

Formyl-glycinegeneratingenzymedeficiency

Multiplesulfatasedeficiency AR SUMF1 607939

α-GalactosidaseAdeficiency Fabrydisease XL GLA 300644Acidceramidasedeficiency,inflammatoryphenotype

Farberdisease AR ASAH1 613468

Acidceramidasedeficiency,primaryneurologicphenotype

Spinalmuscularatrophywithprogressivemyoclonicepilepsy

AR ASAH1 613468

Combinedsaposindeficiency Prosaposindeficiency AR PSAP 176801103.Oligosaccharidosesα-neuraminidasedeficiency Sialidosis AR NEU1 608272CathepsinAdeficiency Galactosialidosis AR CTSA 613111α-mannosidasedeficiency α-mannosidosis AR MAN2B1 609458

β-mannosidasedeficiency β-mannosidosis AR MANBA 609489α-N-acetylgalactosaminidasedeficiency Schindlerdisease;Kanzakidisease(milder) AR NAGA 104170α-fucosidasedeficiency α-fucosidosis AR FUCA1 612280Aspartylglucosaminidasedeficiency Aspartylglucosaminuria AR AGA 613228104.MucolipidosesUDP-N-acetylglucosamine-1-phosphotransferaseα/βsubunitdeficiency

Mucolipidosistype2,I-celldisease(severe);mucolipidosistype3α/β,pseudo-Hurlerpolydystrophy(milder)

AR GNPTAB 607840

UDP-N-acetylglucosamine-1-phosphotransferaseγsubunitdeficiency

Mucolipidosistype3γ AR GNPTG 607838

Mucolipin1deficiency Mucolipidosistype4 AR MCOLN1 605248105.Disordersofglycosaminoglycandegradationα-iduronidasedeficiency Mucopolysaccharidosistype1H,Hurlersyndrome

(severe);mucopolysaccharidosistype1S,Scheiesyndrome(milder)

AR IDUA 252800

Iduronatesulfatasedeficiency Mucopolysaccharidosistype2;Huntersyndrome XLR IDS 300823HeparanN-sulfatasedeficiency Mucopolysaccharidosistype3A;Sanfilipposyndrome

typeAAR SGSH 605270

N-acetylglucosaminidasedeficiency Mucopolysaccharidosistype3B;SanfilipposyndrometypeB

AR NAGLU 609701

Heparan-α-glucosaminideN-acetyltransferasedeficiency

Mucopolysaccharidosistype3C,SanfilipposyndrometypeC(severe),retinitispigmentosatype73(milder)

AR HGSNAT 610453

N-acetylglucosamine6-sulfatasedeficiency

Mucopolysaccharidosistype3D;SanfilipposyndrometypeD

AR GNS 607664

N-acetylgalactosamine6-sulfatasedeficiency

Mucopolysaccharidosistype4A;MorquiosyndrometypeA

AR GALNS 612222

β-galactosidasedeficiency,Morquiosyndromephenotype

Mucopolysaccharidosistype4B AR GLB1 611458

N-acetylgalactosamine4-sulfatasedeficiency

Mucopolysaccharidosistype6;Maroteaux-Lamysyndrome;arylsulfataseBdeficiency

AR ARSB 611542

β-glucuronidasedeficiency Mucopolysaccharidosistype7;Slysyndrome AR GUSB 611499Hyaluronidasedeficiency Mucopolysaccharidosistype9;Natowiczsyndrome AR HYAL1 607071ArylsulfataseGdeficiency Ushersyndrometype4 AR ARSG 610008Mucopolysaccharidosis-plussyndrome AR VPS33A 610034106.Disordersoflysosomalcholesterolmetabolism

Niemann-PickdiseasetypeC1 AR NPC1 607623Niemann-PickdiseasetypeC2 AR NPC2 601015Lysosomalacidlipasedeficiency Wolmandisease(severe);cholesterylesterstorage

disease(milder)AR LIPA 613497

107.DisordersoflysosomaltransportorsortingCystinosindeficiency Cystinosis AR CTNS 606272Sialindeficiency Infantilesialicacidstoragedisease(severe);Salla

disease(milder)AR SLC17A5 604322

Glucocerebrosidasereceptordeficiency Progressivemyoclonicepilepsytype4;actionmyoclonus-renalfailuresyndrome

AR SCARB2 602257

Seealso:Methylmalonicaciduriaandhomocystinuria,cblFandcblJtypesingroup26,andmucolipidosistype4ingroup104.108.DisordersoflysosomalproteindegradationCathepsinKdeficiency Pycnodysostosis AR CTSK 601105CathepsinCdeficiency Papillon-Lefevresyndrome;Haim-Munksyndrome AR CTSC 602365CathepsinBsuperactivity AD CTSB 116810Seealso:CathepsinDandFdeficienciesingroup101,andcathepsinAdeficiencyingroup103.

H.DISORDERSOFPEROXISOMESANDOXALATE109.DisordersofplasmalogensynthesisPTS2receptordeficiency Rhizomelicchondrodysplasiapunctatatype1

(severe);classicRefsumdiseasetype2(milder)AR PEX7 601757

Glycerone3-phosphateacyltransferasedeficiency

Rhizomelicchondrodysplasiapunctatatype2 AR GNPAT 602744

Alkylglycerone3-phosphatesynthasedeficiency

Rhizomelicchondrodysplasiapunctatatype3 AR AGPS 603051

Fattyacyl-CoAreductase1(FAR1)deficiency

AR FAR1 616107

Peroxin5longisoformdeficiency Rhizomelicchondrodysplasiapunctatatype5 AR PEX5 600414110.Disordersofperoxisomalβ-oxidationX-linkedadrenoleukodystrophy XLR ABCD1 300371Peroxisomalstraight-chainacyl-CoAoxidasedeficiency

Pseudo-neonataladrenoleukodystrophy AR ACOX1 609751

D-bifunctionalproteindeficiency Pseudo-Zellwegersyndrome(severe);Perraultsyndrometype1(milder)

AR HSD17B4 601860

L-bifunctionalproteindeficiency Fanconirenotubularsyndrometype3 AR EHHADH 607037

Sterolcarrierprotein-2deficiency Leukoencephalopathywithdystoniaandmotorneuropathy

AR SCP2 184755

Seealso:α-methylacyl-CoAracemasedeficiencyingroup97.111.Disorderofperoxisomalα-oxidationPhytanoyl-CoAhydroxylasedeficiency ClassicRefsumdisease AR PHYH 602026Seealso:PTS2receptordeficiencyingroup109.112.DisordersofperoxisomalbiogenesisPeroxin1deficiency Peroxisomebiogenesisdisorder1A(Zellweger

syndrome);peroxisomebiogenesisdisorder1B(neonataladrenoleukodystrophy/infantileRefsumdisease);Heimlersyndrometype1

AR PEX1 602136

Peroxin2deficiency Peroxisomebiogenesisdisorder5A(severe);peroxisomebiogenesisdisorder5B(milder)

AR PEX2 170993

Peroxin3deficiency Peroxisomebiogenesisdisorder10A(severe);peroxisomebiogenesisdisorder10B(milder)

AR PEX3 603164

Peroxin5deficiency Peroxisomebiogenesisdisorder2A(severe);peroxisomebiogenesisdisorder2B(milder)

AR PEX5 600414

Peroxin6deficiency Peroxisomebiogenesisdisorder5A(severe);peroxisomebiogenesisdisorder5B(intermediate);Heimlersyndrometype2(milder)

AD,AR PEX6 601498

Peroxin10deficiency Peroxisomebiogenesisdisorder6A(severe);peroxisomebiogenesisdisorder6B(milder)

AR PEX10 602859

Peroxin11Bdeficiency Peroxisomebiogenesisdisorder14B AR PEX11B 603867Peroxin12deficiency Peroxisomebiogenesisdisorder3A(severe);

peroxisomebiogenesisdisorder3B(milder)AR PEX12 601758

Peroxin13deficiency Peroxisomebiogenesisdisorder11A(severe);peroxisomebiogenesisdisorder11B(milder)

AR PEX13 601789

Peroxin14deficiency Peroxisomebiogenesisdisorder13A AR PEX14 601791Peroxin16deficiency Peroxisomebiogenesisdisorder8A(severe);

peroxisomebiogenesisdisorder8B(milder)AR PEX16 603360

Peroxin19deficiency Peroxisomebiogenesisdisorder12A AR PEX19 600279Peroxin26deficiency Peroxisomebiogenesisdisorder7A(severe);

peroxisomebiogenesisdisorder7B(milder)AR PEX26 608666

113.PeroxisomaldisordersnotinvolvinglipidmetabolismCatalasedeficiency Acatalasemia AR CAT 115500

Alanine-glyoxylateaminotransferasedeficiency

Primaryhyperoxaluriatype1 AR AGXT 604285

Hydroxyacidoxidase1deficiency Glycolateoxidasedeficiency;isolatedglycolicaciduria

AR HAO1 605023

114.DisordersofoxalatemetabolismGlyoxylatereductase/hydroxypyruvatereductasedeficiency

Primaryhyperoxaluriatype2 AR GRHPR 604296

4-hydroxy-2-oxoglutaratealdolase1deficiency

Primaryhyperoxaluriatype3 AR HOGA1 613597

Oxalatetransporterdeficiency AR SLC26A1 610130Seealso:Alanine-glyoxylateaminotransferaseandhydroxyacidoxidase1deficienciesingroup113.

I.CONGENITALDISORDERSOFGLYCOSYLATION115.DisordersofN-linkedglycosylationPhosphomannomutase2deficiency PMM2-CDG AR PMM2 601785Phosphomannoseisomerasedeficiency MPI-CDG AR MPI 154550N-acetylglucosamine-1-phosphatetransferasedeficiency

DPAGT1-CDG AR DPAGT1 191350

X-linkedrecessiveUDP-N-acetylglucosaminetransferasecatalyticsubunitdeficiency

ALG13-CDG XLR ALG13 300776

X-linkeddominantUDP-N-acetylglucosaminetransferasecatalyticsubunitdeficiency

Earlyinfantileepilepticencephalopathytype36 XLD ALG13 300776

UDP-N-acetylglucosaminetransferaseanchoringsubunitdeficiency

ALG14-CDG AR ALG14 612866

ALG1β-1,4-mannosyltransferasedeficiency

ALG1-CDG AR ALG1 605907

ALG2α-1,3/1,6-mannosyltransferasedeficiency

ALG2-CDG AR ALG2 607905

ALG11α-1,2-mannosyltransferasedeficiency

ALG11-CDG AR ALG11 613666

Lipid-linkedoligosaccharideflippasedeficiency

RFT1-CDG AR RFT1 611908

ALG3α-1,3-mannosyltransferasedeficiency

ALG3-CDG AR ALG3 608750

ALG9α-1,2-mannosyltransferasedeficiency

ALG9-CDG AR ALG9 606941

ALG12α-1,6-mannosyltransferasedeficiency

ALG12-CDG AR ALG12 607144

ALG6α-1,3-glucosyltransferasedeficiency ALG6-CDG AR ALG6 604566ALG8α-1,3-glucosyltransferasedeficiency ALG8-CDG(recessive);polycysticliverdiseasetype3

(dominant)AD,AR ALG8 608103

OligosaccharyltransferaseTUSC3subunitdeficiency

TUSC3-CDG AR TUSC3 601385

OligosaccharyltransferaseSTT3Asubunitdeficiency

STT3A-CDG AR STT3A 601134

OligosaccharyltransferaseMAGT1subunitdeficiency

MAGT1-CDG XLR MAGT1 300715

Translocon-associatedproteinδsubunitdeficiency

SSR4-CDG XLR SSR4 300090

Mannosyl-oligosaccharideα-1,2-glucosidasedeficiency

MOGS-CDG AR MOGS 601336

α-1,3-glucosidaseIIsubunitαdeficiency Polycystickidneydiseasetype3 AD GANAB 104160α-1,3-glucosidaseIIsubunitβdeficiency Polycysticliverdiseasetype1 AD PRKCSH 177060α-1,2-mannosidaseIdeficiency MAN1B1-CDG AR MAN1B1 604346β-1,2-N-acetylglucosaminyltransferaseIIdeficiency

MGAT2-CDG AR MGAT2 602616

α-1,6-fucosyltransferasedeficiency FUT8-CDG AR FUT8 602589Fucokinasedeficiency FUK-CDG AR FUK 608675116.DisordersofO-mannosylationProteinO-mannosyltransferase1deficiency

MDDGA1(severe);MDDGB1(intermediate);MDDGC1(milder)

AR POMT1 607423

ProteinO-mannosyltransferase2deficiency

MDDGA2;MDDGB2;MDDGC2 AR POMT2 607439

ProteinO-mannoseβ-1,2-N-acetylglucosaminyltransferasedeficiency

MDDGA3;MDDGB3;MDDGC3;retinitispigmentosatype76

AR POMGNT1 606822

ProteinO-mannoseβ-1,4-N-acetylglucosaminyltransferasedeficiency

MDDGA8 AR POMGNT2 614828

β-1,3-galactosaminyltransferase2deficiency

MDDGA11 AR B3GALNT2 610194

ProteinO-mannosekinasedeficiency MDDGA12;MDDGC12 AR POMK 615247Methylerythritol4-phosphatecytidylyltransferasedeficiency

MDDGA7;MDDGC7 AR ISPD 614631

Fukutindeficiency MDDGA4;MDDGB4;MDDGC4 AR FKTN 607440Fukutin-relatedproteindeficiency MDDGA5;MDDGB5;MDDGC5 AR FKRP 606596Ribitolβ-1,4-xylosyltransferasedeficiency MDDGA10 AR RXYLT1 605862β-1,4-glucuronyltransferase1deficiency MDDGA13 AR B4GAT1 605517β-1,3-glucuronyltransferase/α-1,3-xylosytransferasedeficiency

MDDGA6;MDDGB6 AR LARGE1 603590

Seealso:Dolicholkinase,dolichol-phosphatemannosesynthasesubunit1,dolichol-phosphatemannosesynthasesubunit2,anddolichol-phosphatemannosesynthasesubunit3deficienciesingroup124,andGDP-mannosepyrophosphorylaseβsubunitdeficiencyingroup126.117.DisordersofO-xylosylationandglycosaminoglycansynthesisXylosyltransferase1deficiency Desbuquoisdysplasiatype2 AR XYLT1 608124Xylosyltransferase2deficiency Spondyloocularsyndrome AR XYLT2 608125β-1,4-galactosyltransferase7deficiency ProgeroidEhlers-Danlossyndrometype1;Larsenof

ReunionIslandsyndromeAR B4GALT7 604327

β-1,3-galactosyltransferase6deficiency Spondyloepimetaphysealdysplasiawithjointlaxitytype1;progeroidEhlers-Danlossyndrometype2

AR B3GALT6 615291

β-1,3-glucuronyltransferase3deficiency Larsen-likesyndrome AR B3GAT3 606374Exostosinglycosyltransferase1deficiency Multiplehereditaryexostosestype1 AD EXT1 608177Exostosinglycosyltransferase2deficiency Multiplehereditaryexostosestype2 AD EXT2 608210AutosomalrecessiveEXT2-relatedsyndrome(AREXT2)

AR EXT2 608210

Exostosin-likeglycosyltransferase3deficiency

Immunoskeletaldysplasiawithneurodevelopmentalabnormalities

AR EXTL3 605744

HeparansulfateN-deacetylase/N-sulfotransferase1deficiency

Autosomalrecessivementalretardationtype46 AR NDST1 600853

Heparansulfate6-O-sulfatetransferase1deficiency

Hypogonadotropichypogonadismtype15withorwithoutanosmia

AD HS6ST1 604846

Chondroitinsulfatesynthase1deficiency Temtamypreaxialbrachydactylysyndrome AR CHSY1 608183Chondroitin4-sulfotransferase1deficiency

AR CHST11 610128

Chondroitin6-sulfotransferasedeficiency AutosomalrecessiveLarsensyndrome;spondyloepiphysealdysplasiaOmanitype;humerospinaldysostosis

AR CHST3 603799

Dermatan4-sulfotransferase1deficiency Ehlers-Danlossyndromemusculocontracturaltype1 AR CHST14 608429Dermatansulfateepimerasedeficiency Ehlers-Danlossyndromemusculocontracturaltype2 AR DSE 605942CornealN-acetylglucosamine6-O-sulfotransferasedeficiency

Macularcornealdystrophy AR CHST6 605294

UDP-galactosenucleotidasedeficiency Desbuquoisdysplasiatype1;multipleepiphysealdysplasiatype7

AR CANT1 613165

Sulfatetransporterdeficiency Achondrogenesistype1;atelosteogenesistype2;diastrophicdysplasia;multipleepiphysealdysplasiatype4

AR SLC26A2 606718

Phosphoadenosine5'-phosphosulfatesynthetase2deficiency

Spondyloepimetaphysealdysplasia,Pakistanitype AR PAPSS2 603005

Golgi-residentphosphoadenosinephosphatephosphatasedeficiency

Chondrodysplasiawithjointdislocations,gPAPPtype AR IMPAD1 614010

SLC10A7deficiency AR SLC10A7 611459Seealso:UDP-glucuronicacid/UDP-N-acetylgalactosaminedualtransporterdeficiencyingroup127.118.DisordersofO-GalNAcylationPolypeptideN-acetylgalactosaminyltransferase3deficiency

Hyperphosphatemicfamilialtumoralcalcinosistype1;hyperostosis-hyperphosphatemiasyndrome

AR GALNT3 601756

Core1β-1,3-galactosyltransferasechaperonedeficiency

Tnpolyagglutinationsyndrome Somatic C1GALT1C1 300611

119.DisordersofO-GlcNAcylationO-linkedN-acetylglucosaminetransferasedeficiency

X-linkedmentalretardationtype106 XLR OGT 300255

EGFdomain-specificO-linkedN-acetylglucosaminetransferasedeficiency

Adams-Oliversyndrometype4 AR EOGT 614789

120.DisorderofO-glucosylationProteinO-glucosyltransferasedeficiency

Dowling-Degosdiseasetype4 AD POGLUT1 615618

121.DisordersofO-fucosylationProteinO-fucosyltransferasedeficiency Dowling-Degosdiseasetype2 AD POFUT1 607491Fucose-specificβ-1,3-N-acetylglucosaminyltransferasedeficiency

Spondylocostaldysostosistype3 AR LFNG 602576

Fucose-specificβ-1,3-glucosyltransferasedeficiency

Peters-Plussyndrome AR B3GLCT 610308

122.DisordersofglycosylphosphatidylinositolbiosynthesisPIGA-CDG Multiplecongenitalanomalies-hypotonia-seizures

syndrometype2;GPIbiosynthesisdefecttype4;earlyinfantileepilepticencephalopathytype20

XLR PIGA 311770

PIGC-CDG GPIbiosynthesisdefecttype16;autosomalrecessivementalretardationtype62

AR PIGC 601730

PIGQ-CDG AR PIGQ 605754PIGH-CDG GPIbiosynthesisdefecttype17 AR PIGH 600154PIGL-CDG CHIMEsyndrome;GPIbiosynthesisdefecttype5 AR PIGL 605947PIGW-CDG Hyperphosphatasiawithmentalretardationtype5;

GPIbiosynthesisdefecttype11AR PIGW 610275

PIGM-CDG GPIbiosynthesisdefecttype1 AR PIGM 610273PIGV-CDG Hyperphosphatasiawithmentalretardationtype1;

GPIbiosynthesisdefecttype2AR PIGV 610274

PIGN-CDG Multiplecongenitalanomalies-hypotonia-seizuressyndrometype1;GPIbiosynthesisdefecttype3

AR PIGN 606097

PIGO-CDG Hyperphosphatasiawithmentalretardationtype2;GPIbiosynthesisdefecttype6

AR PIGO 614730

PIGG-CDG Autosomalrecessivementalretardationtype53;GPIbiosynthesisdefecttype13

AR PIGG 616918

PIGT-CDG Multiplecongenitalanomalies-hypotonia-seizuressyndrometype3,GPIbiosynthesisdefecttype7

AR PIGT 610272

PIGS-CDG GPIbiosynthesisdefecttype18 AR PIGS 610271GPAA1-CDG GPIbiosynthesisdefecttype15 AR GPAA1 603048PGAP1-CDG Autosomalrecessivementalretardationtype42;GPI

biosynthesisdefecttype9AR PGAP1 611655

PGAP3-CDG Hyperphosphatasiawithmentalretardationtype4;GPIbiosynthesisdefecttype10

AR PGAP3 611801

PGAP2-CDG Hyperphosphatasiawithmentalretardationtype3;GPIbiosynthesisdefecttype8

AR PGAP2 615187

123.DisordersofglycolipidglycosylationGM3synthasedeficiency Amishinfantileepilepsysyndrome;saltandpepper

developmentalregressionsyndromeAR ST3GAL5 604402

GM2/GD2synthasedeficiency Autosomalrecessivespasticparaplegiatype26 AR B4GALNT1 601873GD1a/GT1bsynthasedeficiency ST3GAL3-CDG AR ST3GAL3 606494

GB3synthasedeficiency NORpolyagglutinationsyndrome AD A4GALT 607922124.DisordersofdolicholmetabolismCis-isoprenyltransferasedeficiency AD,AR DHDDS 608172Nogo-Breceptordeficiency AD,AR NUS1 610463Polyprenolreductasedeficiency SRD5A3-CDG AR SRD5A3 611715Dolicholkinasedeficiency DOLK-CDG AR DOLK 610746Dolichol-phosphatemannosesynthasesubunit1deficiency

DPM1-CDG AR DPM1 603503

Dolichol-phosphatemannosesynthasesubunit2deficiency

DPM2-CDG AR DPM2 603564

Dolichol-phosphatemannosesynthasesubunit3deficiency

DPM3-CDG AR DPM3 605951

MPDU1-CDG AR MPDU1 604041125.DisordersofmonosaccharidesynthesisandinterconversionUDP-N-acetylglucosamine-2-epimerase/N-acetylmannosaminekinasedeficiency

GNEmyopathy;Nonakamyopathy AR GNE 603824

UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosaminekinasesuperactivity

Sialuria AD GNE 603824

N-acetylneuraminicacid-9-phosphatesynthasedeficiency

NANS-CDG;spondyloepimetaphysealdysplasiaCamera-Genevievetype

AR NANS 605202

Glutamine:fructose-6-phosphatetransaminasedeficiency

Congenitalmyasthenicsyndrometype12 AR GFPT1 138292

Phosphoglucomutase1deficiency PGM1-CDG;glycogenstoragediseasetype14 AR PGM1 171900N-Acetylglucosamine-phosphatemutasedeficiency

PGM3-CDG;immunodeficiencytype23 AR PGM3 172100

Glucose-6-phosphatasecatalyticsubunit3deficiency

Severecongenitalneutropeniatype4;Dursunsyndrome

AR G6PC3 611045

Seealso:Phosphomannomutase2andphosphomannoseisomerasedeficienciesingroup115.126.Disordersofnucleotide-sugarsynthesisGDP-mannosepyrophosphorylaseαsubunitdeficiency

Alacrima,achalasia,andmentalretardationsyndrome

AR GMPPA 615495

GDP-mannosepyrophosphorylaseβsubunitdeficiency

MDDGA14;MDDGB14;MDDGC14 AR GMPPB 615320

Seealso:CADtrifunctionalproteindeficiencyingroup1.127.DisordersofGolgitransportCMP-sialicacidtransporterdeficiency SLC35A1-CDG AR SLC35A1 605634UDP-galactosetransporterdeficiency SLC35A2-CDG;earlyinfantileepileptic

encephalopathy22XLD SLC35A2 314375

UDP-N-acetylglucosaminetransporterdeficiency

SLC35A3-CDG AR SLC35A3 605632

GDP-fucosetransporterdeficiency SLC35C1-CDG AR SLC35C1 605881UDP-glucuronicacid/UDP-N-acetylgalactosaminedualtransporterdeficiency

Schneckenbeckendysplasia;SLC35D1-CDG AR SLC35D1 610804

Seealso:SLC39A8deficiencyingroup42.128.GlycosylationdisordersofvesiculartraffickingConservedoligomericGolgicomplexsubunit1deficiency

COG1-CDG AR COG1 606973

ConservedoligomericGolgicomplexsubunit4deficiency

COG4-CDG AR COG4 606976

ConservedoligomericGolgicomplexsubunit4superactivity

Saul-Wilsonsyndrome;COG4-SWS AD COG4 606976

ConservedoligomericGolgicomplexsubunit5deficiency

COG5-CDG AR COG5 606821

ConservedoligomericGolgicomplexsubunit6deficiency

COG6-CDG AR COG6 606977

ConservedoligomericGolgicomplexsubunit7deficiency

COG7-CDG AR COG7 606978

ConservedoligomericGolgicomplexsubunit8deficiency

COG8-CDG AR COG8 606979

Jagunal1deficiency Severecongenitalneutropeniatype6 AR JAGN1 616012Congenitaldyserythropoieticanemiatype2

SEC23B-CDG AR SEC23B 610512

Achondrogenesistype1A AR TRIP11 604505TRAPPC11-CDG Limb-girdlemusculardystrophytype2S AR TRAPPC11 614138Cohensyndrome AR VPS13B 607817GOSR2-CDG AR GOSR2 604027129.DisordersofGolgihomeostasis

Abbreviations:AD,autosomaldominant;adPEO,autosomaldominantprogressiveexternalophthalmoplegia;AR,autosomalrecessive;arPEO,autosomalrecessiveprogressiveexternalophthalmoplegia;GPI,glycosylphosphatidylinositol;Mit,mitochondrial;MDDGA,musculardystrophy-dystroglycanopathywithbrainandeyeanomalies(typeA,includesWalker-Warburgsyndromeandmuscle-eye-braindisease);MDDGB,musculardystrophy-dystroglycanopathywithmentalretardation(typeB);MDDGC,limb-girdlemusculardystrophy-dystroglycanopathy(typeC);XL,X-linked;XLD,X-linkeddominant;XLR,X-linkedrecessive.

ATP6V0A2-CDG Autosomalrecessivecutislaxatype2A(wrinklyskinsyndrome)

AR ATP6V0A2 611716

ATP6V1A-CDG Autosomalrecessivecutislaxatype2D AR ATP6V1A 607027ATP6V1E1-CDG Autosomalrecessivecutislaxatype2C AR ATP6V1E1 108746ATP6AP1-CDG Immunodeficiencytype47 XLR ATP6AP1 300197ATP6AP2-CDG X-linkedmentalretardation,Hederatype XLR ATP6AP2 300556Transmembraneprotein199deficiency TMEM199-CDG AR TMEM199 616815CCDC115-CDG AR CCDC115 613734Transmembraneprotein165deficiency TMEM165-CDG AR TMEM165 614726SLC9A7-CDG Sodium/hydrogenexchangertype7deficiency XLR SLC9A7 300368130.DisorderofdeglycosylationN-glycanase1deficiency NGLY1-CDDG AR NGLY1 610661