P -Point mutation, or any insertion/deletion entirely inside one geneD -Deletion of a gene or genesC - Whole chromosome extra, missing, or both (see chromosomal aberrations)T -Trinucleotide repeat disorders: gene is extended in length
common disorders
SNo Disorder Mutation Chromosome1 22q11.2 deletion syndrome D 22q2 Angelman syndrome DCP 153 Canavan disease 17p4 Charcot–Marie–Tooth disease 5 Color blindness P X6 Cri du chat D 57 Cystic fibrosis P 7q8 Down syndrome C 219 Duchenne muscular dystrophy D Xp10 Haemochromatosis P 611 Haemophilia P X12 Klinefelter syndrome C X13 Neurofibromatosis 17q/22q/?14 Phenylketonuria P 12q15 Polycystic kidney disease P 16 (PKD1) or 4 (PKD2)16 Prader–Willi syndrome DC 1517 Sickle-cell disease P 11p18 Tay–Sachs disease P 1519 Turner syndrome C X
Full list
SNo Disorder name Mutation type Chromosome1 1p36 deletion syndrome D 1p362 18p deletion syndrome D 18p3 21-hydroxylase deficiency 6p21.3
4 45,XTurner syndrome C X
5 47,XX,+21Down syndrome C 21
6 47,XXXtriple X syndrome C X
7 47,XXY C X
Klinefelter syndrome
8 47,XY,+21Down syndrome C 21
9 47,XYY syndrome C Y
10 5-ALA dehydratase-deficient porphyriaALA dehydratase deficiency
11 5-aminolaevulinic dehydratase deficiency porphyriaALA dehydratase deficiency
12 5p deletion syndromeCri du chat D 5p
13 5p- syndromeCri du chat D 5p
14 A-Tataxia telangiectasia
15 AATalpha 1-antitrypsin deficiency
16 Absence of vas deferenscongenital absence of the vas deferens
17 Absent vasacongenital absence of the vas deferens
18 aceruloplasminemia
19 ACG2achondrogenesis type II
20 ACHachondroplasia
21 Achondrogenesis type II 22 achondroplasia substitution 4p16.3
23 Acid beta-glucosidase deficiencyGaucher disease type 1
24 Acrocephalosyndactyly (Apert)Apert syndrome
25 acrocephalosyndactyly, type VPfeiffer syndrome
26 AcrocephalyApert syndrome
27 Acute cerebral Gaucher's diseaseGaucher disease type 2
28 acute intermittent porphyria
29 ACY2 deficiencyCanavan disease
30 ADAlzheimer's disease
31 Adelaide-type craniosynostosisMuenke syndrome
32 Adenomatous Polyposis Coli
familial adenomatous polyposis
33 Adenomatous Polyposis of the Colonfamilial adenomatous polyposis
34 ADPALA dehydratase deficiency
35 adenylosuccinate lyase deficiency
36 Adrenal gland disorders21-hydroxylase deficiency
37 Adrenogenital syndrome21-hydroxylase deficiency
38 Adrenoleukodystrophy
39 AIPacute intermittent porphyria
40 AISandrogen insensitivity syndrome
41 AKUalkaptonuria
42 ALA dehydratase porphyriaALA dehydratase deficiency
43 ALA-D porphyriaALA dehydratase deficiency
44 ALA dehydratase deficiency 45 Albinism
46 Alcaptonuriaalkaptonuria
47 Alexander disease 48 alkaptonuria
49 Alkaptonuric ochronosisalkaptonuria
50 alpha 1-antitrypsin deficiency
51 alpha-1 proteinase inhibitoralpha 1-antitrypsin deficiency 14q32.1
52 alpha-1 related emphysemaalpha 1-antitrypsin deficiency 14q32.1
53 Alpha-galactosidase A deficiencyFabry disease P Xq22.1
54 ALSamyotrophic lateral sclerosis
55 Alström syndrome
56 ALXAlexander disease
57 Alzheimer's disease 58 Amelogenesis imperfecta
59 Amino levulinic acid dehydratase deficiencyALA dehydratase deficiency
60 Aminoacylase 2 deficiencyCanavan disease
61 amyotrophic lateral sclerosis
62 Anderson-Fabry diseaseFabry disease P Xq22.1
63 androgen insensitivity syndrome 64 Anemia
65 Anemia, hereditary sideroblasticX-linked sideroblastic anemia X
66 Anemia, sex-linked hypochromic sideroblasticX-linked sideroblastic anemia X
67 Anemia, splenic, familialGaucher disease
68 Angelman syndrome
69 Angiokeratoma Corporis DiffusumFabry disease P Xq22.1
70 Angiokeratoma diffuseFabry disease
71 Angiomatosis retinaevon Hippel–Lindau disease
72 ANH1X-linked sideroblastic anemia X
73 APC resistance, Leiden typefactor V Leiden thrombophilia
74 Apert syndrome
75 AR deficiencyandrogen insensitivity syndrome
76 AR-CMT2Charcot-Marie-Tooth disease, type 2
77 ArachnodactylyMarfan syndrome
78 ARNSHLNonsyndromic deafness#autosomal recessive
79 Arthro-ophthalmopathy, hereditary progressiveStickler syndrome#COL2A1
80 Arthrochalasis multiplex congenitaEhlers–Danlos syndrome#arthrochalasia type
81 ASAngelman syndrome
82 Asp deficiencyCanavan disease
83 Aspa deficiencyCanavan disease
84 Aspartoacylase deficiencyCanavan disease
85 ataxia telangiectasia
86Autism-Dementia-Ataxia-Loss of Purposeful Hand UsesyndromeRett syndrome
87 autosomal dominant juvenile ALSamyotrophic lateral sclerosis, type 4
88 Autosomal dominant opitz G/BBB syndrome22q11.2 deletion syndrome D 22q
89 autosomal recessive form of juvenile ALS type 3Amyotrophic lateral sclerosis#type 2
90 Autosomal recessive nonsyndromic hearing lossNonsyndromic deafness#autosomal recessive
91Autosomal Recessive Sensorineural Hearing Impairment andGoiterPendred syndrome
92 AxDAlexander disease
93 Ayerza syndromeprimary pulmonary hypertension
94 B variant of the Hexosaminidase GM2 gangliosidosisSandhoff disease
95 BANFneurofibromatosis type II
96 Beare-Stevenson cutis gyrata syndrome 10q26
97 Benign paroxysmal peritonitisMediterranean fever, familial
98 Benjamin syndrome 99 beta-thalassemia
100 BH4 Deficiencytetrahydrobiopterin deficiency
101 Bilateral Acoustic Neurofibromatosisneurofibromatosis type II
102 biotinidase deficiency 103 bladder cancer
104 Bleeding disordersfactor V Leiden thrombophilia
105 Bloch-Sulzberger syndromeincontinentia pigmenti
106 Bloom syndrome 15q26.1107 Bone diseases
108 Bone marrow diseasesX-linked sideroblastic anemia
109 Bonnevie-Ullrich syndromeTurner syndrome
110 Bourneville disease
tuberous sclerosis
111 Bourneville phakomatosistuberous sclerosis
112 Brain diseasesprion disease
113 breast cancer 114 Birt–Hogg–Dubé syndrome 17
115 Brittle bone diseaseosteogenesis imperfecta
116 Broad Thumb-Hallux syndromeRubinstein-Taybi syndrome
117 Bronze Diabeteshemochromatosis
118 Bronzed cirrhosishemochromatosis
119 Bulbospinal muscular atrophy, X-linkedKennedy's disease
120 Burger-Grutz syndromelipoprotein lipase deficiency, familial
121 CADASIL syndrome P 3122 CGD Chronic granulomatous disorder 123 Campomelic dysplasia C 17q24.3-q25.1124 Canavan disease 125 Cancer
126 Cancer Family syndromehereditary nonpolyposis colorectal cancer
127 Cancer of breastbreast cancer
128 Cancer of the bladderbladder cancer
129 Carboxylase Deficiency, Multiple, Late-Onsetbiotinidase deficiency P 3
130 CardiomyopathyNoonan syndrome
131 Cat cry syndromeCri du chat
132 CAVDcongenital absence of the vas deferens
133 Caylor cardiofacial syndrome22q11.2 deletion syndrome D 22q
134 CBAVDcongenital absence of the vas deferens
135 CEPcongenital erythropoietic porphyria
Ceramide trihexosidase deficiency
136 Fabry disease X
137 Cerebelloretinal Angiomatosis, familialvon Hippel-Lindau disease P 3 (p26-p25)
138Cerebral arteriopathywith subcortical infarcts and leukoencephalopathyCADASIL syndrome
P 3
139Cerebral autosomal dominant ateriopathywith subcortical infarcts and leukoencephalopathyCADASIL syndrome
P 3
140 Cerebral sclerosistuberous sclerosis 9 (q34), 16 (p13.3)
141 Cerebroatrophic HyperammonemiaRett syndrome X
142 Cerebroside Lipidosis syndromeGaucher disease P 1(q21)
143 CFcystic fibrosis
D (most common);or substitution CFTR (7q31.2)
144 CHcongenital hypothyroidism
145 Charcot diseaseamyotrophic lateral sclerosis
146 Charcot-Marie-Tooth disease
147 Chondrodystrophiaachondroplasia
148 Chondrodystrophy syndromeachondroplasia
149 Chondrodystrophy with sensorineural deafnessotospondylomegaepiphyseal dysplasia
150 Chondrogenesis imperfectaachondrogenesis, type II
151 Choreoathetosis self-mutilation hyperuricemia syndromeLesch-Nyhan syndrome P X
152 Classic Galactosemiagalactosemia P 9 (p13)
153 Classical Ehlers–Danlos syndromeEhlers–Danlos syndrome#classical type
154 Classical Phenylketonuriaphenylketonuria
155 Cleft lip and palateStickler syndrome
156 Cloverleaf skull with thanatophoric dwarfismThanatophoric dysplasia#type 2
157 CLSCoffin-Lowry syndrome
158 CMTCharcot-Marie-Tooth disease
159 Cockayne syndrome 160 Coffin-Lowry syndrome 161 collagenopathy, types II and XI
162 Colon Cancer, familial Nonpolyposishereditary nonpolyposis colorectal cancer
163 Colon cancer, familialfamilial adenomatous polyposis
164 Colorectal cancer
165 Complete HPRT deficiencyLesch-Nyhan syndrome
166Complete hypoxanthine-guanine phosphoribosyltransferasedeficiencyLesch-Nyhan syndrome
167 Compression neuropathyhereditary neuropathy with liability to pressure palsies
168 Congenital adrenal hyperplasia21-hydroxylase deficiency
169 congenital bilateral absence of vas deferensCongenital absence of the vas deferens
170 Congenital erythropoietic porphyria 171 Congenital heart disease
172Congenital hypomyelinationCharcot-Marie-Tooth disease#Type 1Charcot-Marie-Tooth disease#Type 4
173 Congenital hypothyroidism
174 Congenital methemoglobinemiaMethemoglobinemia#Congenital methaemoglobinaemia
175 Congenital osteosclerosisachondroplasia
176 Congenital sideroblastic anaemiaX-linked sideroblastic anemia X
177 Connective tissue disease
178 Conotruncal anomaly face syndrome22q11.2 deletion syndrome D 22q
179 Cooley's Anemiabeta-thalassemia
180 Copper storage diseaseWilson's disease 13 (q14.3)
181 Copper transport diseaseMenkes disease
182 Coproporphyria, hereditaryhereditary coproporphyria
183 Coproporphyrinogen oxidase deficiencyhereditary coproporphyria
184 Cowden syndrome
185 CPO deficiencyhereditary coproporphyria
186 CPRO deficiencyhereditary coproporphyria
187 CPX deficiencyhereditary coproporphyria
188 Craniofacial dysarthrosisCrouzon syndrome
189 Craniofacial DysostosisCrouzon syndrome
190 Cretinismcongenital hypothyroidism
191 Creutzfeldt-Jakob diseaseprion disease
192 Cri du chat D 5p193 Crohn's disease, fibrostenosing P 16q12
194 Crouzon syndrome FGFR2 (10q25.3-q26)
195 Crouzon syndrome with acanthosis nigricansCrouzonodermoskeletal syndrome
196 Crouzonodermoskeletal syndrome
197CSCockayne syndromeCowden syndrome
198 Curschmann-Batten-Steinert syndromemyotonic dystrophy
199 cutis gyrata syndrome of Beare-StevensonBeare-Stevenson cutis gyrata syndrome
200 D-glycerate dehydrogenase deficiencyhyperoxaluria, primary
201 Dappled metaphysis syndromespondyloepimetaphyseal dysplasia, Strudwick type
202 DAT - Dementia Alzheimer's typeAlzheimer's disease
203 Genetic hypercalciuriaDent's disease Xp11.22
204 DBMDmuscular dystrophy, Duchenne and Becker types
205 Deafness with goiterPendred syndrome
206 Deafness-retinitis pigmentosa syndromeUsher syndrome
207 Deficiency disease, Phenylalanine Hydroxylasephenylketonuria P 12q
208 Degenerative nerve diseases de Grouchy syndrome 1
209 De Grouchy syndrome D 18p
210 Dejerine-Sottas syndromeCharcot-Marie-Tooth disease
211 Delta-aminolevulinate dehydratase deficiency porphyriaALA dehydratase deficiency
212 DementiaCADASIL syndrome
213 demyelinogenic leukodystrophyAlexander disease
214 Dermatosparactic type of Ehlers–Danlos syndromeEhlers–Danlos syndrome#dermatosparaxis type
215 DermatosparaxisEhlers–Danlos syndrome#dermatosparaxis type
216 developmental disabilities
217 dHMNAmyotrophic lateral sclerosis#type 4
218 DHMN-Vdistal spinal muscular atrophy, type V
219 DHTR deficiencyandrogen insensitivity syndrome X
220 Diffuse Globoid Body SclerosisKrabbe disease
221 Di George's syndrome D 22q
222 Dihydrotestosterone receptor deficiencyandrogen insensitivity syndrome X
223 distal spinal muscular atrophy, type V
224 DM1Myotonic dystrophy#type 1 T 19
225 DM2Myotonic dystrophy#type 2 T 3
226 Down syndrome 21
227 DSMAVdistal spinal muscular atrophy, type V
228 DSNCharcot-Marie-Tooth disease#type 4
229 DSSCharcot-Marie-Tooth disease, type 4
230 Duchenne/Becker muscular dystrophyMuscular dystrophy, Duchenne and Becker type
231 Dwarf, achondroplasticachondroplasia 3
232 Dwarf, thanatophoricthanatophoric dysplasia
233 Dwarfism Dwarfism-retinal atrophy-deafness syndrome
234 Cockayne syndrome
235 dysmyelinogenic leukodystrophyAlexander disease
236 Dystrophia myotonicamyotonic dystrophy T 19
237 dystrophia retinae pigmentosa-dysostosis syndromeUsher syndrome
238
Early-Onset familial alzheimer disease (EOFAD)Alzheimer disease#type 1Alzheimer disease#type 3Alzheimer disease#type 4
239 EDSEhlers–Danlos syndrome
240 Ehlers–Danlos syndrome
241 Ekman-Lobstein diseaseosteogenesis imperfecta
242 Entrapment neuropathyhereditary neuropathy with liability to pressure palsies
243 Epiloiatuberous sclerosis
244 EPPerythropoietic protoporphyria
245 Erythroblastic anemiabeta-thalassemia
246 Erythrohepatic protoporphyriaerythropoietic protoporphyria
247 Erythroid 5-aminolevulinate synthetase deficiencyX-linked sideroblastic anemia
248 Erythropoietic porphyriacongenital erythropoietic porphyria
249 erythropoietic protoporphyria
250 Erythropoietic uroporphyriacongenital erythropoietic porphyria
251Eye cancerretinoblastoma FA - Friedreich ataxiaFriedreich's ataxia
252 FAfanconi anemia
253 Fabry disease P Xq22.1254 Facial injuries and disorders 255 factor V Leiden thrombophilia
256 FALSamyotrophic lateral sclerosis
257 familial acoustic neuromaneurofibromatosis type II
258 familial adenomatous polyposis
259 familial Alzheimer disease (FAD)Alzheimer's disease
260 familial amyotrophic lateral sclerosisamyotrophic lateral sclerosis
261 familial dysautonomia
262 familial fat-induced hypertriglyceridemialipoprotein lipase deficiency, familial
263 familial hemochromatosishemochromatosis
264 familial LPL deficiencylipoprotein lipase deficiency, familial
265 familial nonpolyposis colon cancerhereditary nonpolyposis colorectal cancer
266 familial paroxysmal polyserositisMediterranean fever, familial
267 familial PCTporphyria cutanea tarda
268 familial pressure-sensitive neuropathyhereditary neuropathy with liability to pressure palsies
269 familial primary pulmonary hypertension (FPPH)primary pulmonary hypertension
270 Familial Turner syndromeNoonan syndrome
271 familial vascular leukoencephalopathyCADASIL syndrome
272 FAPfamilial adenomatous polyposis
273 FDfamilial dysautonomia
274 Female pseudo-Turner syndromeNoonan syndrome
275 Ferrochelatase deficiencyerythropoietic protoporphyria
276 ferroportin diseaseHaemochromatosis#type 4
277 FeverMediterranean fever, familial
278 FG syndrome
279 FGFR3-associated coronal synostosisMuenke syndrome
280 Fibrinoid degeneration of astrocytesAlexander disease
281 Fibrocystic disease of the pancreascystic fibrosis
FMF
282 Mediterranean fever, familial
283 Folling diseasephenylketonuria
284 fra(X) syndromefragile X syndrome Xq27.3
285 fragile X syndrome Xq27.3
286 Fragilitas ossiumosteogenesis imperfecta
287 FRAXA syndromefragile X syndrome Xq27.3
288 FRDAFriedreich's ataxia
289 Friedreich's ataxiaFriedreich's ataxia
290 Friedreich's ataxia
291 FXSfragile X syndrome Xq27.3
292 G6PD deficiency
293 Galactokinase deficiency diseasegalactosemia
294 Galactose-1-phosphate uridyl-transferase deficiency diseasegalactosemia
295 galactosemia
296 Galactosylceramidase deficiency diseaseKrabbe disease
297 Galactosylceramide lipidosisKrabbe disease
298 galactosylcerebrosidase deficiencyKrabbe disease
299 galactosylsphingosine lipidosisKrabbe disease
300 GALC deficiencyKrabbe disease
301 GALT deficiencygalactosemia
302 Gaucher disease
303 Gaucher-like diseasepseudo-Gaucher disease
304 GBA deficiencyGaucher disease type 1
305 GDGaucher's disease
306 Genetic brain disorders
307 genetic emphysemaalpha 1-antitrypsin deficiency
308 genetic hemochromatosishemochromatosis
309 Giant cell hepatitis, neonatalNeonatal hemochromatosis
310 GLA deficiencyFabry disease
311 Glioblastoma, retinalretinoblastoma
312 Glioma, retinalretinoblastoma
313 globoid cell leukodystrophy (GCL, GLD)Krabbe disease
314 globoid cell leukoencephalopathyKrabbe disease
315 Glucocerebrosidase deficiencyGaucher disease
316 GlucocerebrosidosisGaucher disease
317 Glucosyl cerebroside lipidosisGaucher disease
318 Glucosylceramidase deficiencyGaucher disease
319 Glucosylceramide beta-glucosidase deficiencyGaucher disease
320 Glucosylceramide lipidosisGaucher disease
321 Glyceric aciduriahyperoxaluria, primary
322 Glycine encephalopathyNonketotic hyperglycinemia
323 Glycolic aciduriahyperoxaluria, primary
324 GM2 gangliosidosis, type 1Tay-Sachs disease
325 Goiter-deafness syndromePendred syndrome
326 Graefe-Usher syndromeUsher syndrome
327 Gronblad-Strandberg syndromepseudoxanthoma elasticum
328 Guenther porphyriacongenital erythropoietic porphyria
329 Gunther diseasecongenital erythropoietic porphyria
330 Haemochromatosishemochromatosis
331 Hallgren syndromeUsher syndrome
332 Harlequin type ichthyosis
333 Hb S diseasesickle cell anemia
334 HCHhypochondroplasia
335 HCPhereditary coproporphyria
336 Head and brain malformations 337 Hearing disorders and deafness 338 Hearing problems in children
339 HEF2Ahemochromatosis#type 2
340 HEF2Bhemochromatosis#type 2
341 Hematoporphyriaporphyria
342 Heme synthetase deficiencyerythropoietic protoporphyria
343 Hemochromatoseshemochromatosis
344 hemochromatosis
345 hemoglobin M diseasemethemoglobinemia#beta-globin type
346 Hemoglobin S diseasesickle cell anemia
347 hemophilia
348 HEPhepatoerythropoietic porphyria
349 hepatic AGT deficiencyhyperoxaluria, primary
350 hepatoerythropoietic porphyria
351 Hepatolenticular degeneration syndromeWilson disease
352 Hereditary arthro-ophthalmopathyStickler syndrome
353 Hereditary coproporphyria P 3q12
354 Hereditary dystopic lipidosisFabry disease
355 Hereditary hemochromatosis (HHC)hemochromatosis
356 Hereditary hemorrhagic telangiectasia (HHT)
357 Hereditary Inclusion Body Myopathyskeletal muscle regeneration
358 Hereditary iron-loading anemiaX-linked sideroblastic anemia
359 Hereditary motor and sensory neuropathyCharcot-Marie-Tooth disease
360 Hereditary motor neuronopathyspinal muscular atrophy
361 Hereditary motor neuronopathy, type Vdistal spinal muscular atrophy, type V
362 Hereditary multiple exostoses
363 Hereditary nonpolyposis colorectal cancer
DNA mismatch repairdysfunctionusually in MSH2 andMLH1 genes
usually chromosomes2 and 3
364 Hereditary periodic fever syndromeMediterranean fever, familial
365 Hereditary Polyposis Colifamilial adenomatous polyposis
366 Hereditary pulmonary emphysemaalpha 1-antitrypsin deficiency
367 Hereditary resistance to activated protein Cfactor V Leiden thrombophilia
368 Hereditary sensory and autonomic neuropathy type IIIfamilial dysautonomia
369 Hereditary spastic paraplegiainfantile-onset ascending hereditary spastic paralysis
370 Hereditary spinal ataxiaFriedreich's ataxia
371 Hereditary spinal sclerosisFriedreich's ataxia
372 Herrick's anemiasickle cell anemia
373 Heterozygous OSMEDWeissenbacher-Zweymüller syndrome
374 Heterozygous otospondylomegaepiphyseal dysplasiaWeissenbacher-Zweymüller syndrome
375 HexA deficiencyTay-Sachs disease
376 Hexosaminidase A deficiencyTay-Sachs disease
377 Hexosaminidase alpha-subunit deficiency (variant B)Tay-Sachs disease
378 HFE-associated hemochromatosishemochromatosis
379 HGPSProgeria
380 Hippel-Lindau disease
von Hippel-Lindau disease
381 HLAHhemochromatosis
382 HMN Vdistal spinal muscular atrophy, type V
383 HMSNCharcot-Marie-Tooth disease
384 HNPCChereditary nonpolyposis colorectal cancer
385 HNPPhereditary neuropathy with liability to pressure palsies
386 homocystinuria
387 Homogentisic acid oxidase deficiencyalkaptonuria
388 Homogentisic aciduraalkaptonuria
389 Homozygous porphyria cutanea tardahepatoerythropoietic porphyria
390 HP1hyperoxaluria, primary
391 HP2hyperoxaluria, primary
392 HPAhyperphenylalaninemia
393HPRT - Hypoxanthine-guanine phosphoribosyltransferasedeficiencyLesch-Nyhan syndrome
394 HSAN type IIIfamilial dysautonomia
395 HSAN3familial dysautonomia
396 HSN-IIIfamilial dysautonomia
397 Human dermatosparaxisEhlers–Danlos syndrome#dermatosparaxis type
398 Huntington's disease T 4p16.3
399 Hutchinson-Gilford progeria syndromeprogeria
400Hyperandrogenism, nonclassic type, due to 21-hydroxylasedeficiency21-hydroxylase deficiency
401 Hyperchylomicronemia, familiallipoprotein lipase deficiency, familial
402 Hyperglycinemia with ketoacidosis and leukopeniapropionic acidemia
Hyperlipoproteinemia type I
403 lipoprotein lipase deficiency, familial
404 hyperoxaluria, primary
405 hyperphenylalaninaemiahyperphenylalaninemia
406 hyperphenylalaninemia
407 Hypochondrodysplasiahypochondroplasia
408 Hypochondrogenesis 409 Hypochondroplasia 4p16.3
410 Hypochromic anemiaX-linked sideroblastic anemia
411 Hypocupremia, congenitalMenkes disease
412 Hypoxanthine phosphoribosyltransferse (HPRT) deficiencyLesch-Nyhan syndrome
413 IAHSPinfantile-onset ascending hereditary spastic paralysis
414ICF syndromeImmunodeficiency, centromere instability and facialanomalies syndrome
20q11.2
415 Idiopathic hemochromatosishemochromatosis, type 3
416 Idiopathic neonatal hemochromatosishemochromatosis, neonatal
417 Idiopathic pulmonary hypertensionprimary pulmonary hypertension
418 Immune system disordersX-linked severe combined immunodeficiency
419 Incontinentia pigmenti P Xq28
420 Infantile cerebral Gaucher's diseaseGaucher disease type 2
421 Infantile Gaucher diseaseGaucher disease type 2
422 infantile-onset ascending hereditary spastic paralysis 423 Infertility
424 inherited emphysemaalpha 1-antitrypsin deficiency
425 Inherited human transmissible spongiform encephalopathiesprion disease
426 inherited tendency to pressure palsieshereditary neuropathy with liability to pressure palsies
427 Insley-Astley syndromeotospondylomegaepiphyseal dysplasia
428 Intermittent acute porphyria syndromeacute intermittent porphyria
429 Intestinal polyposis-cutaneous pigmentation syndromePeutz–Jeghers syndrome
430 IPincontinentia pigmenti
431 Iron storage disorderhemochromatosis
432 Isodicentric 15isodicentric 15 Inv dup 15q11-14
433 Isolated deafnessnonsyndromic deafness
434 Jackson-Weiss syndrome
435 JHHaemochromatosis#type 2
436 Joubert syndrome
437 JPLSJuvenile Primary Lateral Sclerosis ALS2
438 juvenile amyotrophic lateral sclerosisAmyotrophic lateral sclerosis#type 2
439 Juvenile gout, choreoathetosis, mental retardation syndromeLesch-Nyhan syndrome
440 juvenile hyperuricemia syndromeLesch-Nyhan syndrome
441 JWSJackson-Weiss syndrome
442 KDX-linked spinal-bulbar muscle atrophy
443 Kennedy diseaseX-linked spinal-bulbar muscle atrophy
444 Kennedy spinal and bulbar muscular atrophyX-linked spinal-bulbar muscle atrophy
445 Kerasin histiocytosisGaucher disease
446 Kerasin lipoidosisGaucher disease
447 Kerasin thesaurismosisGaucher disease
448 ketotic glycinemiapropionic acidemia
449 ketotic hyperglycinemiapropionic acidemia
450 Kidney diseaseshyperoxaluria, primary
451 Klinefelter syndrome
452 Klinefelter syndromeKlinefelter syndrome
453 Kniest dysplasia
454 Krabbe disease
455 Lacunar dementiaCADASIL syndrome
456 Langer-Saldino achondrogenesisachondrogenesis, type II
457 Langer-Saldino dysplasiaachondrogenesis, type II
458 Late-onset Alzheimer diseaseAlzheimer disease#type 2
459 Late-onset familial Alzheimer disease (AD2)Alzheimer disease#type 2
460 late-onset Krabbe disease (LOKD)Krabbe disease
461 Learning DisordersLearning disability
462 Lentiginosis, perioralPeutz-Jeghers syndrome
463 Lesch-Nyhan syndrome 464 Leukodystrophies
465 leukodystrophy with Rosenthal fibersAlexander disease
466 Leukodystrophy, spongiformCanavan disease
467 LFSLi-Fraumeni syndrome
468 Li-Fraumeni syndrome
469 Lipase D deficiencylipoprotein lipase deficiency, familial
470 LIPD deficiencylipoprotein lipase deficiency, familial
471 Lipidosis, cerebrosideGaucher disease
472 Lipidosis, ganglioside, infantileTay-Sachs disease
473 Lipoid histiocytosis (kerasin type)Gaucher disease
474 lipoprotein lipase deficiency, familial
475 Liver diseasesgalactosemia
476 Lou Gehrig diseaseamyotrophic lateral sclerosis
477 Louis-Bar syndromeataxia telangiectasia
478 Lynch syndromehereditary nonpolyposis colorectal cancer
479 Lysyl-hydroxylase deficiencyEhlers–Danlos syndrome#kyphoscoliosis type
480 Machado-Joseph diseaseSpinocerebellar ataxia#type 3
481 Male breast cancerbreast cancer
482 Male genital disorders
483 Male Turner syndromeNoonan syndrome
484 Malignant neoplasm of breastbreast cancer
485 malignant tumor of breastbreast cancer
486 Malignant tumor of urinary bladderbladder cancer
487 Mammary cancerbreast cancer
488 Marfan syndrome 15
489 Marker X syndromefragile X syndrome
490 Martin-Bell syndromefragile X syndrome
491 McCune–Albright syndrome 20 q13.2-13.3492 McLeod syndrome X493 MEDNIK D AP1S1
494 Mediterranean Anemiabeta-thalassemia
495 Mediterranean fever, familial
496 Mega-epiphyseal dwarfismotospondylomegaepiphyseal dysplasia
497 Menkea syndromeMenkes disease
498 Menkes disease
499 Mental retardation with osteocartilaginous abnormalitiesCoffin-Lowry syndrome
500 Metabolic disorders
501 Metatropic dwarfism, type IIKniest dysplasia
502 Metatropic dysplasia type IIKniest dysplasia
503 Methemoglobinemia#beta-globin type 504 methylmalonic acidemia
505 MFSMarfan syndrome
MHAM
506 Cowden syndrome
507 MKMenkes disease
508 Micro syndrome 2q21.3509 Microcephaly P 1q31 (ASPM)
510 MMAmethylmalonic acidemia
511 MNKMenkes disease
512 Monosomy 1p36 syndrome1p36 deletion syndrome D 1p36
513 monosomy XTurner syndrome
514 Motor neuron disease, amyotrophic lateral sclerosisamyotrophic lateral sclerosis
515 Movement disorders 516 Mowat-Wilson syndrome 517 Mucopolysaccharidosis (MPS I)
518 Mucoviscidosiscystic fibrosis
519 Muenke syndrome
520 Multi-Infarct dementiaCADASIL syndrome
521 Multiple carboxylase deficiency, late-onsetbiotinidase deficiency
522 Multiple hamartoma syndromeCowden syndrome
523 Multiple neurofibromatosisneurofibromatosis
524 Muscular dystrophy 525 Muscular dystrophy, Duchenne and Becker type
526 Myotonia atrophicamyotonic dystrophy
527 Myotonia dystrophicamyotonic dystrophy
528 myotonic dystrophy
529 Myxedema, congenitalcongenital hypothyroidism
530 Nance-Insley syndromeotospondylomegaepiphyseal dysplasia
531 Nance-Sweeney chondrodysplasiaotospondylomegaepiphyseal dysplasia
532 NBIA1pantothenate kinase-associated neurodegeneration
533 Neill-Dingwall syndromeCockayne syndrome
534 Neuroblastoma, retinalretinoblastoma
535 Neurodegeneration with brain iron accumulation type 1pantothenate kinase-associated neurodegeneration
536 Neurofibromatosis type I 17q11.2537 Neurofibromatosis type II 538 Neurologic diseases 539 Neuromuscular disorders
540 neuronopathy, distal hereditary motor, type VDistal spinal muscular atrophy#type V
541neuronopathy, distal hereditary motor, with pyramidalfeaturesAmyotrophic lateral sclerosis#type 4
542 Niemann-PickNiemann–Pick disease
NPA, NPB, NPC1, NPC2,Sphingomyelinphosphodiesterase 1
SMPD1
543 Noack syndromePfeiffer syndrome
544 Nonketotic hyperglycinemiaGlycine encephalopathy
545 Non-neuronopathic Gaucher diseaseGaucher disease type 1
546 Non-phenylketonuric hyperphenylalaninemiatetrahydrobiopterin deficiency
547 nonsyndromic deafness 548 Noonan syndrome
549 Norrbottnian Gaucher diseaseGaucher disease type 3
550 Ochronosisalkaptonuria
551 Ochronotic arthritisalkaptonuria
552 OIosteogenesis imperfecta
553 Osler-Weber-Rendu diseaseHereditary hemorrhagic telangiectasia
554 OSMEDotospondylomegaepiphyseal dysplasia
555 osteogenesis imperfecta
556 Osteopsathyrosisosteogenesis imperfecta
557 Osteosclerosis congenitaachondroplasia
558 Oto-spondylo-megaepiphyseal dysplasiaotospondylomegaepiphyseal dysplasia
559 otospondylomegaepiphyseal dysplasia
560 Oxalosishyperoxaluria, primary
561 Oxaluria, primaryhyperoxaluria, primary
562 pantothenate kinase-associated neurodegeneration 563 Patau Syndrome (Trisomy 13)
564 PBGD deficiencyacute intermittent porphyria
565 PCC deficiencypropionic acidemia
566 PCTporphyria cutanea tarda
567 PDMMyotonic dystrophy#type 2
568 Pendred syndrome
569 Periodic diseaseMediterranean fever, familial
570 Periodic peritonitisMediterranean fever, familial
571 Periorificial lentiginosis syndromePeutz-Jeghers syndrome
572 Peripheral nerve disordersfamilial dysautonomia
573 Peripheral neurofibromatosisneurofibromatosis type I
574 Peroneal muscular atrophyCharcot-Marie-Tooth disease
575 peroxisomal alanine:glyoxylate aminotransferase deficiencyhyperoxaluria, primary
576 Peutz-Jeghers syndrome 577 Pfeiffer syndrome
578 Phenylalanine hydroxylase deficiency diseasephenylketonuria
579 phenylketonuria
580 Pheochromocytomavon Hippel-Lindau disease
581 Pierre Robin syndrome with fetal chondrodysplasiaWeissenbacher-Zweymüller syndrome
582 Pigmentary cirrhosishemochromatosis
583 PJSPeutz-Jeghers syndrome
584 PKANpantothenate kinase-associated neurodegeneration
585 PKUphenylketonuria
586 PlumboporphyriaALA deficiency porphyria
587 PMACharcot-Marie-tooth disease
588 Polycystic kidney disease P 16 (PKD1) or 4(PKD2)
589 polyostotic fibrous dysplasiaMcCune–Albright syndrome 20 q13.2-13.3
590 polyposis colifamilial adenomatous polyposis
591 polyposis, hamartomatous intestinalPeutz-Jeghers syndrome
592 polyposis, intestinal, IIPeutz-Jeghers syndrome
593 polyps-and-spots syndromePeutz-Jeghers syndrome
594 Porphobilinogen synthase deficiencyALA deficiency porphyria
595 porphyria
596 porphyrin disorderporphyria
597 PPHprimary pulmonary hypertension
598 PPOX deficiencyvariegate porphyria
599 Prader-Labhart-Willi syndromePrader-Willi syndrome
600 Prader-Willi syndrome
601 presenile and senile dementiaAlzheimer's disease
602 primary hemochromatosishemochromatosis
603 primary hyperuricemia syndromeLesch-Nyhan syndrome
604 primary pulmonary hypertension
605 primary senile degenerative dementiaAlzheimer's disease
606 prion disease
607 procollagen type EDS VII, mutantEhlers–Danlos syndrome#arthrochalasia type
608 progeriaHutchinson Gilford Progeria Syndrome
609 Progeria-like syndromeCockayne syndrome
610 progeroid nanismCockayne syndrome
611 progressive chorea, chronic hereditary (Huntington)Huntington's disease
612 progressive muscular atrophyspinal muscular atrophy
613progressively deforming osteogenesis imperfecta withnormal scleraeOsteogenesis imperfecta#Type III
614 PROMMMyotonic dystrophy#type 2
615 propionic acidemia
616 propionyl-CoA carboxylase deficiencypropionic acidemia
617 protein C deficiency 618 protein S deficiency
619 protoporphyriaerythropoietic protoporphyria
620 protoporphyrinogen oxidase deficiencyvariegate porphyria
621 proximal myotonic dystrophyMyotonic dystrophy#type 2
622 proximal myotonic myopathyMyotonic dystrophy#type 2
623 pseudo-Gaucher disease
624 pseudo-Ullrich-Turner syndromeNoonan syndrome
625 pseudoxanthoma elasticum
626 psychosine lipidosisKrabbe disease
627 pulmonary arterial hypertensionprimary pulmonary hypertension
628 pulmonary hypertensionprimary pulmonary hypertension
629 PWSPrader-Willi syndrome
630 PXE - pseudoxanthoma elasticumpseudoxanthoma elasticum
631 Rbretinoblastoma
632 Recklinghausen disease, nerveneurofibromatosis type I
633 Recurrent polyserositis
Mediterranean fever, familial634 Retinal disorders
635 Retinitis pigmentosa-deafness syndromeUsher syndrome
636 Retinoblastoma 637 Rett syndrome
638 RFALS type 3Amyotrophic lateral sclerosis#type 2
639 Ricker syndromeMyotonic dystrophy#type 2
640 Riley-Day syndromefamilial dysautonomia
641 Roussy-Levy syndromeCharcot-Marie-Tooth disease
642 RSTSRubinstein-Taybi syndrome
643RTSRett syndromeRubinstein-Taybi syndrome
644 RTTRett syndrome
645 Rubinstein-Taybi syndrome
646 Sack-Barabas syndromeEhlers–Danlos syndrome, vascular type
647 SADDAN
648 sarcoma family syndrome of Li and FraumeniLi-Fraumeni syndrome
649sarcoma, breast, leukemia, and adrenal gland (SBLA)syndromeLi-Fraumeni syndrome
650 SBLA syndromeLi-Fraumeni syndrome
651 SBMAX-linked spinal-bulbar muscle atrophy
652 SCDsickle cell anemia
653 Schwannoma, acoustic, bilateralneurofibromatosis type II
654 Schwartz–Jampel syndrome
655 SCIDX1X-linked severe combined immunodeficiency
656 sclerosis tuberosatuberous sclerosis
657 SDATAlzheimer's disease
658 SED congenitaspondyloepiphyseal dysplasia congenita
659 SED Strudwickspondyloepimetaphyseal dysplasia, Strudwick type
660 SEDcspondyloepiphyseal dysplasia congenita
661 SEMD, Strudwick typespondyloepimetaphyseal dysplasia, Strudwick type
662 senile dementiaAlzheimer disease#type 2
663severe achondroplasia with developmental delay andacanthosis nigricansSADDAN
664 Shprintzen syndrome22q11.2 deletion syndrome D 22q
665 sickle cell anemia D 18q666 Siderius X-linked mental retardation syndrome PD Xp11.22
667 skeleton-skin-brain syndromeSADDAN
668 Skin pigmentation disorders
669 SMAspinal muscular atrophy
670 SMED, Strudwick typespondyloepimetaphyseal dysplasia, Strudwick type
671 SMED, type Ispondyloepimetaphyseal dysplasia, Strudwick type
672 Smith-Lemli-Opitz syndrome 673 Smith Magenis Syndrome
674 South-African genetic porphyriavariegate porphyria
675 spastic paralysis, infantile onset ascendinginfantile-onset ascending hereditary spastic paralysis
676 Speech and communication disorders
677 sphingolipidosis, Tay-SachsTay-Sachs disease
678 spinal-bulbar muscular atrophy 679 spinal muscular atrophy
680 spinal muscular atrophy, distal type VDistal spinal muscular atrophy#type V
681spinal muscular atrophy, distal, with upper limbpredominanceDistal spinal muscular atrophy#type V
682 spinocerebellar ataxia 683 spondyloepimetaphyseal dysplasia, Strudwick type 684 spondyloepiphyseal dysplasia congenita
685 spondyloepiphyseal dysplasiacollagenopathy, types II and XI
686spondylometaepiphyseal dysplasia congenita, Strudwicktypespondyloepimetaphyseal dysplasia, Strudwick type
687 spondylometaphyseal dysplasia (SMD)spondyloepimetaphyseal dysplasia, Strudwick type
688 spondylometaphyseal dysplasia, Strudwick typespondyloepimetaphyseal dysplasia, Strudwick type
689 spongy degeneration of central nervous systemCanavan disease
690 spongy degeneration of the brainCanavan disease
691 spongy degeneration of white matter in infancyCanavan disease
692 sporadic primary pulmonary hypertensionprimary pulmonary hypertension
693 SSB syndromeSADDAN
694 steely hair syndromeMenkes disease
695 Steinert diseasemyotonic dystrophy
696 Steinert myotonic dystrophy syndromemyotonic dystrophy
697 Stickler syndrome
698 strokeCADASIL syndrome
699 Strudwick syndromespondyloepimetaphyseal dysplasia, Strudwick type
700 subacute neuronopathic Gaucher diseaseGaucher disease type 3
701 Swedish genetic porphyriaacute intermittent porphyria
702 Swedish porphyriaacute intermittent porphyria
703 Swiss cheese cartilage dysplasiaKniest dysplasia
704 Tay-Sachs disease
705 TD - thanatophoric dwarfismthanatophoric dysplasia
706 TD with straight femurs and cloverleaf skullthanatophoric dysplasia#Type 2
707 Telangiectasia, cerebello-oculocutaneousataxia telangiectasia
Testicular feminization syndrome
708 androgen insensitivity syndrome
709 tetrahydrobiopterin deficiency
710 TFM - testicular feminization syndromeandrogen insensitivity syndrome
711 thalassemia intermediabeta-thalassemia
712 Thalassemia Majorbeta-thalassemia
713 thanatophoric dysplasia
714Thrombophilia due to deficiency of cofactor for activatedprotein C, Leiden typefactor V Leiden thrombophilia
715 Thyroid disease
716 Tomaculous neuropathyhereditary neuropathy with liability to pressure palsies
717 Total HPRT deficiencyLesch-Nyhan syndrome
718Total hypoxanthine-guanine phosphoribosyl transferasedeficiencyLesch-Nyhan syndrome
719 Transmissible dementiasprion disease
720 Transmissible spongiform encephalopathiesprion disease
721 Treacher Collins syndrome 5q32-q33.1
722 Trias fragilitis ossiumosteogenesis imperfecta#Type I
723 triple X syndrome
724 Triplo X syndrometriple X syndrome
725 Trisomy 21Down syndrome
726 Trisomy Xtriple X syndrome
727 Troisier-Hanot-Chauffard syndromehemochromatosis
728 TSTurner syndrome
729 TSDTay-Sachs disease
730 TSEsprion disease
731 tuberose sclerosistuberous sclerosis
732 tuberous sclerosis
733 Turner syndrome
734 Turner syndrome in female with X chromosomeNoonan syndrome
735 Turner's phenotype, karyotype normalNoonan syndrome
736 Turner's syndromeTurner syndrome
737 Turner-like syndromeNoonan syndrome
738 Type 2 Gaucher diseaseGaucher disease type 2
739 Type 3 Gaucher diseaseGaucher disease type 3
740 UDP-galactose-4-epimerase deficiency diseasegalactosemia
741 UDP glucose 4-epimerase deficiency diseasegalactosemia
742UDP glucose hexose-1-phosphate uridylyltransferasedeficiencygalactosemia
743 Ullrich-Noonan syndromeNoonan syndrome
744 Ullrich-Turner syndromeTurner syndrome
745 Undifferentiated deafnessnonsyndromic deafness
746 UPS deficiencyacute intermittent porphyria
747 Urinary bladder cancerbladder cancer
748 UROD deficiencyporphyria cutanea tarda
749 Uroporphyrinogen decarboxylase deficiencyporphyria cutanea tarda
750 Uroporphyrinogen synthase deficiencyacute intermittent porphyria
751 UROS deficiencycongenital erythropoietic porphyria
752 Usher syndrome
753 UTP hexose-1-phosphate uridylyltransferase deficiencygalactosemia
754 Van Bogaert-Bertrand syndromeCanavan disease
755 Van der Hoeve syndromeosteogenesis imperfecta#Type I
756 variegate porphyria
757 Velocardiofacial syndrome22q11.2 deletion syndrome D 22q
758 VHL syndromevon Hippel-Lindau disease
759 Vision impairment and blindnessAlström syndrome
760 Von Bogaert-Bertrand diseaseCanavan disease
761 von Hippel-Lindau disease
762 Von Recklenhausen-Applebaum diseasehemochromatosis
763 von Recklinghausen diseaseneurofibromatosis type I
764 VPvariegate porphyria
765 Vrolik diseaseosteogenesis imperfecta
766 Waardenburg syndrome
767 Warburg Sjo Fledelius SyndromeMicro syndrome 2q21.3
768 WDWilson disease
769 Weissenbacher-Zweymüller syndrome 770 Williams Syndrome 771 Wilson disease
772 Wilson's diseaseWilson disease
773 Wolf–Hirschhorn syndrome D 4p
774 Wolff Periodic diseaseMediterranean fever, familial
775 WZSWeissenbacher-Zweymüller syndrome
776 Xeroderma pigmentosum ERCC4 15
777 X-linked mental retardation and macroorchidismfragile X syndrome
778 X-linked primary hyperuricemiaLesch-Nyhan syndrome
779 X-linked severe combined immunodeficiency 780 X-linked sideroblastic anemia
781 X-linked spinal-bulbar muscle atrophyKennedy's disease
782 X-linked uric aciduria enzyme defectLesch-Nyhan syndrome
783 X-SCIDX-linked severe combined immunodeficiency
784 XLSAX-linked sideroblastic anemia
785 XSCIDX-linked severe combined immunodeficiency
786 XXX syndrometriple X syndrome
787 XXXX syndrome48, XXXX
788 XXXXX syndrome49, XXXXX
789 XXY syndromeKlinefelter syndrome
790 XXY trisomyKlinefelter syndrome
791 XYY karyotype47,XYY syndrome
792 XYY syndrome47,XYY syndrome
793 YY syndrome47,XYY syndrome
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Original source : en.wikipedia.org/wiki/List_of_genetic_disorders