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A genetic disorder is an illness caused by one or more abnormalities in the genome, especially a
condition that is present from birth (congenital). Most genetic disorders are quite rare and affect one
person in every several thousands or millions.
Genetic disorders are heritable, and are passed down from the parents' genes. Other defects may be
caused by new mutations or changes to the DNA. In such cases, the defect will only be heritable if it
occurs in the germ line. The same disease, such as some forms of cancer, may be caused by an
inherited genetic condition in some people, by new mutations in other people, and by nongenetic causes
in still other people.
Some types of recessive gene disorders confer an advantage in certain environments when only one
copy of the gene is present.[1]
Single gene disorder Prevalence of some single gene disorders
[citation needed]
Disorder prevalence (approximate)
Autosomal dominant
Familial hypercholesterolemia 1 in 500
Polycystic kidney disease 1 in 1250
Neurofibromatosis type I 1 in 2,500
Hereditary spherocytosis 1 in 5,000
Marfan syndrome 1 in 4,000 [2]
Huntington's disease 1 in 15,000 [3]
Autosomal recessive
Sickle cell anaemia 1 in 625
Cystic fibrosis 1 in 2,000
Tay-Sachs disease 1 in 3,000
Phenylketonuria 1 in 12,000
Mucopolysaccharidoses 1 in 25,000
Lysosomal acid lipase deficiency 1 in 40,000
Glycogen storage diseases 1 in 50,000
Galactosemia 1 in 57,000
X-linked
A single gene disorder is the
result of a single mutated gene.
Over 4000 human diseases are
caused by single gene defects.
Single gene disorders can be
passed on to subsequent
generations in several
ways. Genomic
imprinting anduniparental disomy, however, may affect inheritance patterns. The divisions
between recessive and dominant types are not "hard and fast", although the divisions
between autosomal and X-linked types are (since the latter types are distinguished purely based on the
chromosomal location of the gene). For example, achondroplasia is typically considered a dominant
disorder, but children with two genes for achondroplasia have a severe skeletal disorder of which
achondroplasics could be viewed as carriers. Sickle-cell anemia is also considered a recessive condition,
but heterozygous carriers have increased resistance to malaria in early childhood, which could be
described as a related dominant condition.[4]
When a couple where one partner or both are sufferers or
carriers of a single gene disorder and wish to have a child, they can do so through in vitro fertilization,
which means they can then have a preimplantation genetic diagnosis to check whether the embryo has
the genetic disorder.[5]
Autosomal dominant[
Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal
dominant disorder. Each affected person usually has one affected parent.[6]
The chance a child will inherit
the mutated gene is 50%. Autosomal dominant conditions sometimes have reduced penetrance, which
means although only one mutated copy is needed, not all individuals who inherit that mutation go on to
develop the disease. Examples of this type of disorder are Huntington's disease,[7]
neurofibromatosis type
1, neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer, and hereditary
multiple exostoses, which is a highly penetrant autosomal dominant disorder. Birth defects are also called
congenital anomalies.
Autosomal recessive
Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder.
An affected person usually has unaffected parents who each carry a single copy of the mutated gene
(and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene
have a 25% chance with each pregnancy of having a child affected by the disorder. Examples of this type
of disorder are Medium-chain acyl-CoA dehydrogenase deficiency, cystic fibrosis, sickle-cell
disease, Tay-Sachs disease, Niemann-Pick disease, spinal muscular atrophy, and Roberts syndrome.
Certain other phenotypes, such as wet versus dry earwax, are also determined in an autosomal recessive
fashion.[8][9]
X-linked dominant
X-linked dominant disorders are caused by mutations in genes on the X chromosome. Only a few
disorders have this inheritance pattern, with a prime example being X-linked hypophosphatemic rickets.
Males and females are both affected in these disorders, with males typically being more severely affected
Duchenne muscular dystrophy 1 in 7,000
Hemophilia 1 in 10,000
Values are for liveborn infants
than females. Some X-linked dominant conditions, such as Rett syndrome, incontinentia pigmenti type 2
and Aicardi syndrome, are usually fatal in males either in utero or shortly after birth, and are therefore
predominantly seen in females. Exceptions to this finding are extremely rare cases in which boys
with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms
more similar to those of a female in terms of disease severity. The chance of passing on an X-linked
dominant disorder differs between men and women. The sons of a man with an X-linked dominant
disorder will all be unaffected (since they receive their father's Y chromosome), and his daughters will all
inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an
affected fetus with each pregnancy, although it should be noted that in cases such as incontinentia
pigmenti, only female offspring are generally viable. In addition, although these conditions do not alter
fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely reproduce.[citation needed]
X-linked recessive
X-linked recessive conditions are also caused by mutations in genes on the X chromosome. Males are
more frequently affected than females, and the chance of passing on the disorder differs between men
and women. The sons of a man with an X-linked recessive disorder will not be affected, and his
daughters will carry one copy of the mutated gene. A woman who is a carrier of an X-linked recessive
disorder (XRX
r) has a 50% chance of having sons who are affected and a 50% chance of having
daughters who carry one copy of the mutated gene and are therefore carriers. X-linked recessive
conditions include the serious diseases hemophilia A, Duchenne muscular dystrophy, and Lesch-Nyhan
syndrome, as well as common and less serious conditions such as male pattern baldness and red-
green color blindness. X-linked recessive conditions can sometimes manifest in females due to skewed
X-inactivation or monosomy X (Turner syndrome).
Y-linked
Y-linked disorders are caused by mutations on the Y chromosome. Because males inherit a Y
chromosome from their fathers, every son of an affected father will be affected. Because females only
inherit an X chromosome from their fathers, and never a Y chromosome, female offspring of affected
fathers are never affected.
Since the Y chromosome is relatively small and contains very few genes, relatively few Y-linked disorders
occur.[citation needed]
Often, the symptoms include infertility, which may be circumvented with the help of
some fertility treatments. Examples are male infertility.[citation needed]
Mitochondrial
This type of inheritance, also known as maternal inheritance, applies to genes in mitochondrial DNA.
Because only egg cells contribute mitochondria to the developing embryo, only mothers can pass on
mitochondrial conditions to their children. An example of this type of disorder is Leber's hereditary optic
neuropathy.
Multifactorial and polygenic (complex) disorders
Genetic disorders may also be complex, multifactorial, or polygenic, meaning they are likely associated
with the effects of multiple genes in combination with lifestyles and environmental factors. Multifactorial
disorders include heart disease and diabetes. Although complex disorders often cluster in families, they
do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person’s risk of
inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because
the specific factors that cause most of these disorders have not yet been identified.
On a pedigree, polygenic diseases do tend to "run in families", but the inheritance does not fit simple
patterns as with Mendelian diseases. But this does not mean that the genes cannot eventually be located
and studied. There is also a strong environmental component to many of them (e.g., blood pressure).
asthma
autoimmune diseases such as multiple sclerosis
cancers
ciliopathies
cleft palate
diabetes
heart disease
hypertension
inflammatory bowel disease
mental retardation
mood disorder
obesity
refractive error
infertility
Chromosome Map
Our genetic information is stored in 23 pairs of chromosomes that vary widely in size and shape.
Chromosome 1 is the largest and is over three times bigger than chromosome 22. The 23rd pair of
chromosomes are two special chromosomes, X and Y, that determine our sex. Females have a pair of X
chromosomes (46, XX), whereas males have one X and one Y chromosomes (46, XY). Chromosomes
are made of DNA, and genes are special units of chromosomal DNA. Each chromosome is a very long
molecule, so it needs to be wrapped tightly around proteins for efficient packaging.
Near the center of each chromosome is its centromere, a narrow region that divides the chromosome into
a long arm (q) and a short arm (p). We can further divide the chromosomes using special stains that
produce stripes known as a banding pattern. Each chromosome has a distinct banding pattern, and each
band is numbered to help identify a particular region of a chromosome. This method of mapping a gene to
a particular band of the chromosome is called cytogenetic mapping. For example, the hemoglobin beta
gene (HBB) is found on chromosome 11p15.4. This means that the HBB gene lies on the short arm (p) of
chromosome 11 and is found at the band labeled 15.4.
With the advent of new techniques in DNA analysis, we are able to look at the chromosome in much
greater detail. Whereas cytogenetic mapping gives a bird's eye view of the chromosome, more modern
methods show DNA at a much higher resolution. The Human Genome Project aims to identify and
sequence the ~30,000 genes in human DNA.
Go to:
Chromosome 1
Contains over 3000 genes
Contains over 240 million base pairs, of which ~90% have been determined
See the diseases associated with chromosome 1 in the MapViewer.
Go to:
Chromosome 2
Contains over 2500 genes
Contains over 240 million base pairs, of which ~95% have been determined
See the diseases associated with chromosome 2 in the MapViewer.
Go to:
Chromosome 3
Contains approximately 1900 genes
Contains approximately 200 million base pairs, of which ~95% have been determined
See the diseases associated with chromosome 3 in the MapViewer.
Go to:
Chromosome 4
Contains approximately 1600 genes
Contains approximately 190 million base pairs, of which ~95% have been determined
See the diseases associated with chromosome 4 in the MapViewer
Go to:
Chromosome 5
Contains approximately 1700 genes
Contains approximately 180 million base pairs, of which over 95% have been determined
See the diseases associated with chromosome 5 in the MapViewer.
Go to:
Chromosome 6
Contains approximately 1900 genes
Contains approximately 170 million base pairs, of which over 95% have been determined
See the diseases associated with chromosome 6 in the MapViewer.
Go to:
Chromosome 7
Contains approximately 1800 genes
Contains over 150 million base pairs, of which over 95% have been determined
See the diseases associated with chromosome 7 in the MapViewer.
Go to:
Chromosome 8
Contains over 1400 genes
Contains over 140 million base pairs, of which over 95% have been determined
See the diseases associated with chromosome 8 in the MapViewer.
Go to:
Chromosome 9
Contains over 1400 genes
Contains over 130 million base pairs, of which over 85% have been determined
See the diseases associated with chromosome 9 in the MapViewer.
Go to:
Chromosome 10
Contains over 1400 genes
Contains over 130 million base pairs, of which over 95% have been determined
See the diseases associated with chromosome 10 in the MapViewer.
Go to:
Chromosome 11
Contains approximately 2000 genes
Contains over 130 million base pairs, of which over 95% have been determined
See the diseases associated with chromosome 11 in the MapViewer.
Go to:
Chromosome 12
Contains over 1600 genes
Contains over 130 million base pairs, of which over 95% have been determined
See the diseases associated with chromosome 12 in the MapViewer.
Go to:
Chromosome 13
Contains approximately 800 genes
Contains over 110 million base pairs, of which over 80% have been determined
See the diseases associated with chromosome 13 in the MapViewer.
Go to:
Chromosome 14
Contains approximately 1200 genes
Contains over 100 million base pairs, of which over 80% have been determined
See the diseases associated with chromosome 14 in the MapViewer.
Go to:
Chromosome 15
Contains approximately 1200 genes
Contains approximately 100 million base pairs, of which over 80% have been determined
See the diseases associated with chromosome 15 in the MapViewer.
Go to:
Chromosome 16
Contains approximately 1300 genes
Contains approximately 90 million base pairs, of which over 85% have been determined
See the diseases associated with chromosome 16 in the MapViewer.
Go to:
Chromosome 17
Contains over 1600 genes
Contains approximately 80 million base pairs, of which over 95% have been determined
See the diseases associated with chromosome 17 in the MapViewer.
Go to:
Chromosome 18
Contains over 600 genes
Contains over 70 million base pairs, of which over 95% have been determined
See the diseases associated with chromosome 18 in the MapViewer.
Go to:
Chromosome 19
Contains over 1700 genes
Contains over 60 million base pairs, of which over 85% have been determined
See the diseases associated with chromosome 19 in the MapViewer.
Go to:
Chromosome 20
Contains over 900 genes
Contains over 60 million base pairs, of which over 90% have been determined
See the diseases associated with chromosome 20 in the MapViewer.
Go to:
Chromosome 21
Contains over 400 genes
Contains over 40 million base pairs, of which over 70% have been determined
See the diseases associated with chromosome 21 in the MapViewer.
Go to:
Chromosome 22
Contains over 800 genes
Contains over 40 million base pairs, of which approximately 70% have been determined
See the diseases associated with chromosome 22 in the MapViewer.
Go to:
Chromosome X
Contains over 1400 genes
Contains over 150 million base pairs, of which approximately 95% have been determined
See the diseases associated with chromosome X in the MapViewer.
Go to:
Chromosome Y
Contains over 200 genes
Contains over 50 million base pairs, of which approximately 50% have been determined
See the diseases associated with chromosome Y in the MapViewer.
Kenta Nakai and Hiroshi Sakamoto Construction of a novel database containing aberrant splicing mutations of
mammalian genes. Gene 141: 171-7 (1994)
Compilation of aberrant splicing phenomena.
# of EX represents the total number of exons in each gene. SS indicates the 5' or 3' splice site
affected by mutations. IVS represents the position number of mutated introns. When mutations
were observed within exon sequences, the nearest introns are noted. Change indicates
description of each mutation, for example, G1T indicates that the original nucleotide G at
position +1 was changed for A; ins[+2T] indicates that the nucleotide T was inserted at position
+2; del[-29:+1] indicates that nucleotides at positions from -29 to +1 were deleted; TTT-17:-
15AAA indicates that the sequence TTT at positions from -17 to -15 was changed for the
sequence AAA. Result(major) andResult(minor) indicate the resultant aberrant splicing
pattern, for example, ES[8] indicates that the eighth exon was skipped; IR[7] indicates that the
seventh intron was retained; C5[+88] indicates that a cryptic 5' splice site was activated at
position +88; N3[-17] indicates that a new 3' splice site was activated at position -17. In some
cases, comments are added, for example, EXP indicates that the result was not derived from
direct analysis of the cDNA sequence. A typical case is that a portion of the mutated gene was
analyzed using transfection into cultured cells. Similarly, induced indicates that an aberrant
splicing was induced by artificial mutagenesis. Ref. indicates the reference number.
Gene # of
EX SS IVS Change Result (major)
Result
(minor);
Comments
Ref.
mitochondrial
acetoacetyl-
coenzyme A thiolase
(T2)
12
5 8 G1T ES[8]
1
3 10 A-2C ES[11]
1
medium-chain acyl-
CoA dehydrogenase
(MCAD)
12 ? ? ? (nothing?) ES[complex] 2
adenine
phosphoribosyl-
transferase (APRT)
5 5 4 ins[+2 (or3) T ] ES[4]
3
adenosine deaminase
(ADA) 12
? ? ? ES[4] half 4
? ? ? IR[7] or ES[7]
4
serum albumin 15
3 6 A-2G ?(no mRNA?)
5
5 14 del[-29:+1] & ins[-4
AAAA T] ES[14]
6
serum albumin (rat) 15 5 HI del[+5:+11] ES[H] ES[G&H or
H&I] 7 8
fructose 1-phosphate
aldolase (aldolase B) 9 3 8 del[-1:+6] & ins[+2G] ?
9
androgen receptor 8 5 4 G1T C5[-123]
10
apolipoprotein A-II
(apo A-II) 4 5 3 G1A ?
11
apolipoprotein C-II 4 5 2 G1C ?
12
apolipoprotein E 4 3 3 A-2G C3[-53] or IR[3]
13
(argininosuccinate
lyase) 16 ? ? (nothing?) (ES[7]) 5-10% usually 14
argininosuccinate
synthetase 16
3 15 G-1C C3[+7] C3[+395] or
IR[15]
15
16
? ? ? ES[7]
15
? ? ? ES[13]
15
placental aromatase
(P-450AROM) 10 5 6 T2C C5[+88]
17,
18
branched chain
alpha-keto acid
dehydrogenase
(E1alpha)
9? ? ? ? ES[6]
19
branched chain
alpha-keto acid
dehydrogenase
dihydrolipoyl
transacylase (E2)
>11
3 4 TTT-17:-15 AAA N3[-17]
20
5 8 G-1A(1002) ES[8] ES[8:10] 21
5 8 del[-1 (or1) G] ES[8]!
22
? ? ? ES[multiple]?
23
CAD (CHO cell) ~37 3 4 G-1A IR[4], ES[5]
24
carbonic anhydrase II >7 3 5 G-1C ? (half activity?) 25
(alpha(s1)-casein
(goat)) ? 3 9 (ins[-8 AAT] etc.) (ES[9&10&11])
26
(beta-casein) ? 3 2 (int. polyY?) (ES[3]) comparison 27
catalase 13 5 4 G5A (& 6 changes) ES[4] suggestion
from exp 28
CD18 (beta2
integrins) 16
3 6 C-14A N3[-12]
29
5 9 G3C ES[9]!
30
5 7 G1A IR[7] C5[+298],
C5[+64] 31
cholesteryl ester
transfer protein
(CETP)
>16 5 14 G1A ? (abolish)
32
choroideremia
(CHM) gene >5 5 C ins[+3 T]
C5[+35] or
ES[C] 33
c-kit (mouse) ? 5 b G1A ES[B](?) ES[B&C]
tissue-spc. 34
c-myb (mouse) ?
3 proviral integration
new start & new
EX far
downstrm!
35
c-myb c-ets-1
(chicken) ? ? ? ?
(fusion: exon E6
and a) 36
type I collagen pro- >50 5 6 G-1A ES[6] more than 37
alpha1(I) (COL1A1) normal; nearly half
38
5 14 G5A ES[14] partial 39
type I collagen pro-
alpha2(I) (COL1A2) >50
3 5 G-1C C3[+15]
40
5 6 G-1A ES[6]
41
5 6 G1A (&Tc7.3C) ES[6] ; half 42
43
5 6 T2C ES[6]
44
5 9 del[+3:+13] ES[9]
38
3 10 del[-5:+14 CTA..] ES[11] half; no
cryptic 45
3 27 A-2G ES[28] major of half 46
5 33 G5A (&T661G) ES[33]
47
type III collagen
(COL3A1) >43
5 16 G1A ES[16] 71% 48
5 20 G1A C5[+24]
(60/156)
IR[20] or
ES[20]
48
49
5 25 G5T ES[25]
50
5 41 G1A ES[41] 69% 51
5 42 G1A C5[+30] 100% 48
complement C2
(C2D) 18 5 6 del[-9:19] ES[6] complete 52
complement C3 30 5 18 G1A C5[-61]
53
(complement C4
(mouse)) ?
13 (B2 insert) N3[], C5[]
54
cystic fibrosis
transmembrane
conductance
regulator (CFTR)
27
5 4 G1T(621) ?
55
5 5 G1T(711) ?
55
3 10 G-1A ?
56
cytochrome
P450(C21)B (steroid
21-hydroxylase B)
10 3 2 C-13G(656) C3[-19]
57
(cytochrome
P450(C21)B (steroid
21-hydroxylase B)
(bovine))
? ? ? ? (C5[+20])
(normal??) 58
cytochrome
P450IID6 (CYP2D6)
(CYP2D7)
9 3 3 G-1A(1934) N3[+1]?
probable
(similar size
of mRNA)
59
3 3 G-1A (no protein ??)
60
dihydrofolate
reductase (CHO cell) 6
5 2 GG-1:1AA ES[2]
61
3 4 G-1A ES[5]
62
5 4 && G1A REVERTANT: partial C5[+4]
&& C3[+4] etc
62
3 4 G1T ES[5]
62
3 4 (G1A) REVERTANT 25% normal 62
5 5 G1C ES[5]
62
dystrophin >79 3 18 del[+31(~34):+82(~86)] ES[19]
63
factor VIII 26 5 4 G?A
(TCGAAGTGAGT) N5[+?]? probable 64
factor XI (plasma
thromboplastin) 15 5
N
14 G1A ?
65
ferrochelatase 11 3 1 C-23T ES[2] near BP 66
fibrillin ? 3 ? T26G & -64
polym.(G/A) ES[(B)] nonsense mut. 67
alpha2-globin 3 5 1 del[+2:+6 TGAGG] C5[-49] EXP 68
69
beta-globin 3
5 1 A-34G N5[-38] 25%; likely;
normal:60%
70
71
5 1 T-18A N5[-16] 75% 72
5 1 G-1C ? C5[-38, -16,
+13] ? total abolish
73
74
5 1 G1A C5[-38, -16,
+13] 75
5 1 G1T C5[-38, -16,
+13] ? 76
5 1 T2C C5[-38, +13] (not -16!)
77
78
79
5 1 T2G (prevents
normal) 80
5 1 G5A ?; C5[-16] only; EXP 81
82
5 1 G5C C5[-38, -16,
+13] partial; EXP 75
5 1 G5T C5[-38, -16]
(partial) C5[+13] 83
5 1 T6C C5[-38, -16,
+13] partial; EXP 75
3 1 G-21A(110) N3[-19] 90%; 80%
abnormal
84
85
86
3 1 T-15G(116) N3[-14] >99% abnormal
86
3 1 T-3G ?
87
3 1 G-1C(130) ?
88
3 1 (G1C) ? (no effect?)
(73)
3 1 (G1T) ? (no effect?)
(73)
3 1 del[-22(-23):+3(2)] IR[1]
89
5 2 G1A (& G74T) C5[+47] or
ES[2] EXP 90
5 2 C654T(-197)
N5[+653] ->
C3[+579] new
exon (73nt)
91
92
5 2 T705G(-146) (& 5
changes)
N5[+706] ->
C3[+579!] new
exon
93
5 2 T705G(-146) & A580G
(-271)
REVERTANT
normal IVS2 EXP 94
5 2 C745G (-106)
N5[+745] ->
C3[+579] new
exon
EXP 75
3 2 T-8G ?
95
3 2 C-3A C3[-272]
87
96
3 2 A-2G C3[-272] no normal 97
98
3 2 A-2C(849) ? (normal size
mRNA?) 99
delta-globin 3 5 1 G-11T(c27.1) N5[-16]?
presumably;
partial 100
5 1 T2C! ?
100
glucocorticoid
receptor (mouse) 9? ? ? ? ES[2]
rearrange?;
cell 101
(glycophorin B) 5
5 (3) (G1T) (ES[3]) comparison
with GPA 102
3 5 (A1T & T-10G) (C3[-10]) comparison
with GPA 102
glycoprotein (GP) IIb
platelet fibrinogen
receptor
30 3 3 del[-3:+10] C3[+18]
103
glycosylasparaginase 9 5 8 G1T ES[8]
104
G(s alpha) protein ? ? ? ? large del.? (non
105
GT-AG; cell)
(growth hormone
hGH-N) 5 3 2 (A24G & CA17:18TG)
(disable alt
C5[+45])
compared
with hGH-V
BPmut?
106
(growth hormone
hCS-L) 5
5 2 (G1A) (C5[+19]) compared
with hGH-N 107
3 2 (T-28G & C2G) (N3[-28]) compared
with hGH-N 107
growth hormone (rat) 5 3 3 G-1A N3[+1]
108
beta-N-
acetylhexosaminidase
A alpha chain (beta-
hexosaminidase)
14
5 2 G1A ES[2] low amount 109
5 4 G5A ES[4] 3% 109
5 5 G-1A ES[5] ES[5&4] 110
5 7 (G-1A) nothing (aa
change only) ? 111
5 9 del[-12:-8 TCTCC] ?
unpublished
(Triggs-Raine
& Gravel)
112
5 12 G1C equal IR[12] or
ES[12]
&&
ES[downstrm]
113
114
beta-N-
acetylhexosaminidase
A beta chain (beta-
hexosaminidase)
14
3 10 C8T! C3[+112] (2/14)
or ES[11] (1/14) 115
3 12 G-26A N3[-24] no normal 116
3 13 dup[-16:+2] N3[-18] most 117
hypoxanthine
phosphoribosyl-
transferase (HPRT)
9
5 1 G5A C5[+50!] induced 118
119
5 1 G5T C5[+50!] induced 118
119
5 1 del[-2:+34] C5[+50]
119
3 1 A-2G ES[2] ES[2&3],
C3[+5] 119
3 1 A-2T C3[?] ES[2] 120
3 2 C17T ES[2&3] 50% normal 50%? 119
3 2 A29T normal 90% ES[2&3]
10%? 119
3 2 G75T normal 60-70%
C3[-111] 20-
40%? (&
ES[2&3])
119
3 3 A-2T ES[4]
119
3 3 G-1A ES[4]
119
5 4 G1A ES[4]
119
5 5 T2G C5[+68!]
121
5 5 T2C C5[+68]
119
5 5 AA3:4GT C5[+68!] induced 118
119
5 5 G5A C5[+68!] induced 118
119
3 5 G-1A C3[+1]
119
3 5 GG-1:1AA ES[6]
119
5 6 G-1A ES[6]
119
5 6 G1A(35020) ES[6]
122
119
3 6 A-2T ES[7]
119
5 7 G1A ES[7]
119
5 7 G5A ES[7]
120
3 7 T-3A ES[8] induced 123
3 7 G-1A C3[+21],ES[8] either or both 119
3 7 G12A(544) normal 95% ES[8] 5%?
induced
118
119
3 7 C19T(551) normal 70% ES[8] 30%? 119
5 8 C-13T ES[8] 90% normal 10%? 119
5 8 G5A ES[8]
120
5 8 del[-11:+3] ES[8]
119
5 8? ? (no change?) C5[+14]
121
3 8 G-16A C3[-14]
119
3 8 A-2G C3[+17]
123
124
3 8 A-2T C3[+17?]
120
? ? ? not(I1A I2D I2A I3D
I3A I4D) ES[2(&3)]
119
? ? ? not(I3A I4D) ES[4]
121
119
? ? ? ES[5]
121
? ? ? ES[7]
123
? ? ? not I7A ES[8]
119
? ? ? not I8A C3[+17]
119
hypoxanthine
phosphoribosyl-
transferase (HPRT)
(mouse)
9 ? ? ? ES[2] ES[2&3] 125
immunoglobulin
kappa L chain (2)
? ? V J (many changes) ES[VJ]
126
5? 2 (no J) ? C5[+62]
127
immunoglobulin mu H chain
(6?) 5 2 large ins/del at VDJ ES[VDJ]
128
immunoglobulin
alpha H chain ? ? ? (complex) (complex)
129
immunoglobulin
gamma2b H chain
(mouse)
? 5 ch1 del[99nt] ES[CH1]
130
isovaleryl-CoA
dehydrogenase (IVD) ? ? ? ? ES[2]
131
lipoprotein lipase
(LPL) 10 5 2 G1A C5[-18] 1/12
C5[+43,+146,
+250,+387]
132,
133
(MHC classII DC-
3beta) >5 3 4? (G-1A) (ES[?])
compared
with Ab 134
MHC Ia
E(w17)(beta)
(mouse)
? 5 1 ins[+3T] no mRNA?
135
ornithine (delta-)
aminotransferase
(OAT)
11
5 3 C292?G
N5[?] ->
C3[0.15kb] new
exon (142nt)
antisense Alu 136
3 4 del[-5:+4] ES[5]
137
3 5 G13A ES[6] nonsense mut. 67
3 7 G53A ES[8] nonsense mut. 67
ornithine
transcarbamylase
(OTC)
10
3 4 A-2T C3[+12]
138
5 7 T2C ES[7]
138
5 7 A3G! ES[7]
138
ornithine
transcarbamylase
(OTC) (mouse)
10 5 4 G-1A C5[+49!] partial 139
p53 11
3 3 G-1C C3[+19] or
ES[4] 140
5 4 G-1A IR[4]
141
5 5 G5C C5[-46]
142
5 7 G1T IR[7]
140
(pancreatic
polypeptide) 4 5 3 (A-2T & A4G) (C5[+42])
compared
with rat 143
parathyroid hormone
(PTH) 3 5 2 G1C ES[2]
144
peroxisomal
membrane protein
70K (PMP70)
? 5 ? G1A C5[+23]
145
phenylalanine >13 3 10 G-11A(546) N3[-9]
146
hydroxylase (PAH) 147
5 7 G1A ?
148
5 12 G1A ES[12]
149
muscle
phosphofructokinase 24 5 13 G1T (& silent T(516)C) C5[-75]
150
porphobilinogen
(PBG) deaminase 15
5 1 G-1T ?
151
5 1 G1A ? (tissue-spc.)
152
5 10 G-1T C5[-9]
153
5 12 G-1A ES[12]
154
myelin proteolipid
protein (PLP)
(mouse)
7 3 4 A-2G ES[5] (74 nt)
155
156
(myelin proteolipid
protein (PLP) (frog)) ? 5 3 (?) (C5)
(comparison;
no isoform) 157
purine nucleotide
phosphorylase (PNP) 6 5 2 G-1T ES[2]
158
retinoblastoma (Rb)
antioncogene ? 3 20 A-2G ES[21] (35aa)
159
beta-spectrin ? 5 X A4G ES[X]
160
5 Y G3T ES[Y]
161
steel factor (mouse) ? 3 7 T-11A ES[8]
162
(sulfatide activator
protein (SAP-1)) ? - - -
(6 or 9 bp
exons) alternative 163
thyroglobulin >14 3 3 C-3G ES[4]
164
(thyroglobulin
(Africander cattle)) ? 5 9 ?
(ES[9 ]
(1500nt!)
alternative?)
165
thyroid peroxidase
(TPO;
thyroperoxidase)
>17 ? ? ? ES[16] ?
(alternative?) 166
thyroid peroxidase
(TPO;
thyroperoxidase) (rat
cell)
? 5 7 G1A C5[+54]
167
uroporphyrinogen
decarboxylase (URO-
D)
10 5 6 G1C ES[6]
168
Wilms' tumor gene
(WT1) 10 5 9 G5A ? (not ES)
169
group A xeroderma
pigmentosum 6 3 3 G-1C C3[+2] && ES[3] 170
complementing gene (XPAC)
The following is a list of genetic disorders and if known, causal type of mutation and
the chromosome involved. The list of human genes includes genes not listed here, which also affect
predisposition toward certain diseases.
P – Point mutation, or any insertion/deletion entirely inside one gene
D – Deletion of a gene or genes
C – Whole chromosome extra, missing, or both (see chromosomal aberrations)
T – Trinucleotide repeat disorders: gene is extended in length
More common disorders
Disorder Mutation Chromosome
22q11.2 deletion syndrome D 22q
Angelman syndrome DCP 15
Canavan disease
17p
Charcot–Marie–Tooth disease
Color blindness P X
Cri du chat D 5
Cystic fibrosis P 7q
Down syndrome C 21
Duchenne muscular dystrophy D Xp
Haemochromatosis P 6
Haemophilia P X
Klinefelter syndrome C X
Neurofibromatosis
17q/22q/?
Phenylketonuria P 12q
Polycystic kidney disease P 16 (PKD1) or 4 (PKD2)
Prader–Willi syndrome DC 15
Sickle-cell disease P 11p
Tay–Sachs disease P 15
Turner syndrome C X
Full list[edit source | editbeta]
Sortable table
Disorder name Mutation type Chromosome
1p36 deletion syndrome D 1p36
18p deletion syndrome D 18p
21-hydroxylase deficiency
6p21.3
45,X
see Turner syndrome C X
47,XX,+21
see Down syndrome C 21
47,XXX
see triple X syndrome C X
47,XXY
see Klinefelter syndrome C X
47,XY,+21 C 21
Sortable table
Disorder name Mutation type Chromosome
see Down syndrome
47,XYY syndrome C Y
5-ALA dehydratase-deficient porphyria
see ALA dehydratase deficiency
5-aminolaevulinic dehydratase deficiency porphyria
see ALA dehydratase deficiency
5p deletion syndrome
see Cri du chat D 5p
5p- syndrome
see Cri du chat D 5p
A-T
see ataxia telangiectasia
AAT
see alpha 1-antitrypsin deficiency
Absence of vas deferens
see congenital absence of the vas deferens
Absent vasa
see congenital absence of the vas deferens
Sortable table
Disorder name Mutation type Chromosome
aceruloplasminemia
ACG2
see achondrogenesis type II
ACH
see achondroplasia
Achondrogenesis type II
achondroplasia substitution 4p16.3
Acid beta-glucosidase deficiency
see Gaucher disease type 1
Acrocephalosyndactyly (Apert)
see Apert syndrome
acrocephalosyndactyly, type V
see Pfeiffer syndrome
Acrocephaly
see Apert syndrome
Acute cerebral Gaucher's disease
see Gaucher disease type 2
Sortable table
Disorder name Mutation type Chromosome
acute intermittent porphyria
ACY2 deficiency
see Canavan disease
AD
see Alzheimer's disease
Adelaide-type craniosynostosis
see Muenke syndrome
Adenomatous Polyposis Coli
see familial adenomatous polyposis
Adenomatous Polyposis of the Colon
see familial adenomatous polyposis
ADP
see ALA dehydratase deficiency
adenylosuccinate lyase deficiency
Adrenal gland disorders
see 21-hydroxylase deficiency
Adrenogenital syndrome
see 21-hydroxylase deficiency
Sortable table
Disorder name Mutation type Chromosome
Adrenoleukodystrophy
AIP
see acute intermittent porphyria
AIS
see androgen insensitivity syndrome
AKU
see alkaptonuria
ALA dehydratase porphyria
see ALA dehydratase deficiency
ALA-D porphyria
see ALA dehydratase deficiency
ALA dehydratase deficiency
Albinism
Alcaptonuria
see alkaptonuria
Alexander disease
Sortable table
Disorder name Mutation type Chromosome
alkaptonuria
Alkaptonuric ochronosis
see alkaptonuria
alpha 1-antitrypsin deficiency
alpha-1 proteinase inhibitor
see alpha 1-antitrypsin deficiency
14q32.1
alpha-1 related emphysema
see alpha 1-antitrypsin deficiency
14q32.1
Alpha-galactosidase A deficiency
see Fabry disease P Xq22.1
ALS
see amyotrophic lateral sclerosis
Alström syndrome
ALX
see Alexander disease
Alzheimer's disease
Sortable table
Disorder name Mutation type Chromosome
Amelogenesis imperfecta
Amino levulinic acid dehydratase deficiency
see ALA dehydratase deficiency
Aminoacylase 2 deficiency
see Canavan disease
amyotrophic lateral sclerosis
Anderson-Fabry disease
see Fabry disease P Xq22.1
androgen insensitivity syndrome
Anemia
Anemia, hereditary sideroblastic
see X-linked sideroblastic anemia
X
Anemia, sex-linked hypochromic sideroblastic
see X-linked sideroblastic anemia
X
Anemia, splenic, familial
see Gaucher disease
Sortable table
Disorder name Mutation type Chromosome
Angelman syndrome
Angiokeratoma Corporis Diffusum
see Fabry disease P Xq22.1
Angiokeratoma diffuse
see Fabry disease
Angiomatosis retinae
see von Hippel–Lindau disease
ANH1
see X-linked sideroblastic anemia
X
APC resistance, Leiden type
see factor V Leiden thrombophilia
Apert syndrome
AR deficiency
see androgen insensitivity syndrome
AR-CMT2
see Charcot-Marie-Tooth disease, type 2
Arachnodactyly
see Marfan syndrome
Sortable table
Disorder name Mutation type Chromosome
ARNSHL
see Nonsyndromic deafness#autosomal recessive
Arthro-ophthalmopathy, hereditary progressive
see Stickler syndrome#COL2A1
Arthrochalasis multiplex congenita
see Ehlers–Danlos syndrome#arthrochalasia type
AS
see Angelman syndrome
Asp deficiency
see Canavan disease
Aspa deficiency
see Canavan disease
Aspartoacylase deficiency
see Canavan disease
ataxia telangiectasia
Autism-Dementia-Ataxia-Loss of Purposeful Hand
Use syndrome
see Rett syndrome
autosomal dominant juvenile ALS
Sortable table
Disorder name Mutation type Chromosome
see amyotrophic lateral sclerosis, type 4
Autosomal dominant opitz G/BBB syndrome
see 22q11.2 deletion syndrome D 22q
autosomal recessive form of juvenile ALS type 3
see Amyotrophic lateral sclerosis#type 2
Autosomal recessive nonsyndromic hearing loss
see Nonsyndromic deafness#autosomal recessive
Autosomal Recessive Sensorineural Hearing
Impairment and Goiter
see Pendred syndrome
AxD
see Alexander disease
Ayerza syndrome
see primary pulmonary hypertension
B variant of the Hexosaminidase GM2
gangliosidosis
see Sandhoff disease
BANF
see neurofibromatosis type II
Sortable table
Disorder name Mutation type Chromosome
Beare-Stevenson cutis gyrata syndrome
10q26
Benign paroxysmal peritonitis
see Mediterranean fever, familial
Benjamin syndrome
beta-thalassemia
BH4 Deficiency
see tetrahydrobiopterin deficiency
Bilateral Acoustic Neurofibromatosis
see neurofibromatosis type II
biotinidase deficiency
bladder cancer
Bleeding disorders
see factor V Leiden thrombophilia
Bloch-Sulzberger syndrome
see incontinentia pigmenti
Bloom syndrome
15q26.1
Sortable table
Disorder name Mutation type Chromosome
Bone diseases
Bone marrow diseases
see X-linked sideroblastic anemia
Bonnevie-Ullrich syndrome
see Turner syndrome
Bourneville disease
see tuberous sclerosis
Bourneville phakomatosis
see tuberous sclerosis
Brain diseases
see prion disease
breast cancer
Birt–Hogg–Dubé syndrome
17
Brittle bone disease
see osteogenesis imperfecta
Broad Thumb-Hallux syndrome
see Rubinstein-Taybi syndrome
Sortable table
Disorder name Mutation type Chromosome
Bronze Diabetes
see hemochromatosis
Bronzed cirrhosis
see hemochromatosis
Bulbospinal muscular atrophy, X-linked
see Kennedy's disease
Burger-Grutz syndrome
see lipoprotein lipase deficiency, familial
CADASIL syndrome P 3
CGD Chronic granulomatous disorder
Campomelic dysplasia C 17q24.3-q25.1
Canavan disease
Cancer
Cancer Family syndrome
see hereditary nonpolyposis colorectal cancer
Cancer of breast
Sortable table
Disorder name Mutation type Chromosome
see breast cancer [1]
Cancer of the bladder
see bladder cancer
Carboxylase Deficiency, Multiple, Late-Onset
see biotinidase deficiency P 3
Cardiomyopathy
see Noonan syndrome
Cat cry syndrome
see Cri du chat
CAVD
see congenital absence of the vas deferens
Caylor cardiofacial syndrome
see 22q11.2 deletion syndrome D 22q
CBAVD
see congenital absence of the vas deferens
CEP
see congenital erythropoietic porphyria
Ceramide trihexosidase deficiency
see Fabry disease
X
Sortable table
Disorder name Mutation type Chromosome
Cerebelloretinal Angiomatosis, familial
see von Hippel-Lindau disease P 3 (p26-p25)
Cerebral arteriopathy
with subcortical infarcts and leukoencephalopathy
see CADASIL syndrome
P 3
Cerebral autosomal dominant ateriopathy
with subcortical infarcts and leukoencephalopathy
see CADASIL syndrome
P 3
Cerebral sclerosis
see tuberous sclerosis
9 (q34), 16 (p13.3)
Cerebroatrophic Hyperammonemia
see Rett syndrome
X
Cerebroside Lipidosis syndrome
see Gaucher disease P 1(q21)
CF
see cystic fibrosis [2]
D (most common);
or substitution CFTR (7q31.2)
CH
see congenital hypothyroidism
Charcot disease
see amyotrophic lateral sclerosis
Sortable table
Disorder name Mutation type Chromosome
Charcot-Marie-Tooth disease
Chondrodystrophia
see achondroplasia
Chondrodystrophy syndrome
see achondroplasia
Chondrodystrophy with sensorineural deafness
see otospondylomegaepiphyseal dysplasia
Chondrogenesis imperfecta
see achondrogenesis, type II
Choreoathetosis self-mutilation hyperuricemia
syndrome
see Lesch-Nyhan syndrome
P X
Classic Galactosemia
see galactosemia P 9 (p13)
Classical Ehlers–Danlos syndrome
see Ehlers–Danlos syndrome#classical type
Classical Phenylketonuria
see phenylketonuria
Cleft lip and palate
Sortable table
Disorder name Mutation type Chromosome
see Stickler syndrome
Cloverleaf skull with thanatophoric dwarfism
see Thanatophoric dysplasia#type 2
CLS
see Coffin-Lowry syndrome
CMT
see Charcot-Marie-Tooth disease
Cockayne syndrome
Coffin-Lowry syndrome
collagenopathy, types II and XI
Colon Cancer, familial Nonpolyposis
see hereditary nonpolyposis colorectal cancer
Colon cancer, familial
see familial adenomatous polyposis
Colorectal cancer [3]
Complete HPRT deficiency
see Lesch-Nyhan syndrome
Sortable table
Disorder name Mutation type Chromosome
Complete hypoxanthine-guanine
phosphoribosyltransferase deficiency
see Lesch-Nyhan syndrome
Compression neuropathy
see hereditary neuropathy with liability to pressure palsies
Congenital adrenal hyperplasia
see 21-hydroxylase deficiency
congenital bilateral absence of vas deferens
see Congenital absence of the vas deferens
Congenital erythropoietic porphyria
Congenital heart disease
Congenital hypomyelination
see Charcot-Marie-Tooth disease#Type 1
see Charcot-Marie-Tooth disease#Type 4
Congenital hypothyroidism
Congenital methemoglobinemia
see Methemoglobinemia#Congenital methaemoglobinaemia
Congenital osteosclerosis
Sortable table
Disorder name Mutation type Chromosome
see achondroplasia
Congenital sideroblastic anaemia
see X-linked sideroblastic anemia
X
Connective tissue disease
Conotruncal anomaly face syndrome
see 22q11.2 deletion syndrome D 22q
Cooley's Anemia
see beta-thalassemia
Copper storage disease
see Wilson's disease
13 (q14.3)
Copper transport disease
see Menkes disease
Coproporphyria, hereditary
see hereditary coproporphyria
Coproporphyrinogen oxidase deficiency
see hereditary coproporphyria
Cowden syndrome
Sortable table
Disorder name Mutation type Chromosome
CPO deficiency
see hereditary coproporphyria
CPRO deficiency
see hereditary coproporphyria
CPX deficiency
see hereditary coproporphyria
Craniofacial dysarthrosis
see Crouzon syndrome
Craniofacial Dysostosis
see Crouzon syndrome
Cretinism
see congenital hypothyroidism
Creutzfeldt-Jakob disease
see prion disease
Cri du chat D 5p
Crohn's disease, fibrostenosing P 16q12
Crouzon syndrome
FGFR2 (10q25.3-q26)
Sortable table
Disorder name Mutation type Chromosome
Crouzon syndrome with acanthosis nigricans
see Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome
CS
see Cockayne syndrome
see Cowden syndrome
Curschmann-Batten-Steinert syndrome
see myotonic dystrophy
cutis gyrata syndrome of Beare-Stevenson
see Beare-Stevenson cutis gyrata syndrome
D-glycerate dehydrogenase deficiency
see hyperoxaluria, primary
Dappled metaphysis syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
DAT - Dementia Alzheimer's type
see Alzheimer's disease
Genetic hypercalciuria
see Dent's disease
Xp11.22
DBMD
Sortable table
Disorder name Mutation type Chromosome
see muscular dystrophy, Duchenne and Becker types
Deafness with goiter
see Pendred syndrome
Deafness-retinitis pigmentosa syndrome
see Usher syndrome
Deficiency disease, Phenylalanine Hydroxylase
see phenylketonuria P 12q
Degenerative nerve diseases
de Grouchy syndrome 1
see De Grouchy syndrome D 18p
Dejerine-Sottas syndrome
see Charcot-Marie-Tooth disease
Delta-aminolevulinate dehydratase deficiency
porphyria
see ALA dehydratase deficiency
Dementia
see CADASIL syndrome
demyelinogenic leukodystrophy
see Alexander disease
Sortable table
Disorder name Mutation type Chromosome
Dermatosparactic type of Ehlers–Danlos syndrome
see Ehlers–Danlos syndrome#dermatosparaxis type
Dermatosparaxis
see Ehlers–Danlos syndrome#dermatosparaxis type
developmental disabilities
dHMN
see Amyotrophic lateral sclerosis#type 4
DHMN-V
see distal spinal muscular atrophy, type V
DHTR deficiency
see androgen insensitivity syndrome
X
Diffuse Globoid Body Sclerosis
see Krabbe disease
Di George's syndrome D 22q
Dihydrotestosterone receptor deficiency
see androgen insensitivity syndrome
X
distal spinal muscular atrophy, type V
Sortable table
Disorder name Mutation type Chromosome
DM1
see Myotonic dystrophy#type 1 T 19
DM2
see Myotonic dystrophy#type 2 T 3
Down syndrome
21
DSMAV
see distal spinal muscular atrophy, type V
DSN
see Charcot-Marie-Tooth disease#type 4
DSS
see Charcot-Marie-Tooth disease, type 4
Duchenne/Becker muscular dystrophy
see Muscular dystrophy, Duchenne and Becker type
Dwarf, achondroplastic
see achondroplasia
3
Dwarf, thanatophoric
see thanatophoric dysplasia
Dwarfism
Sortable table
Disorder name Mutation type Chromosome
Dwarfism-retinal atrophy-deafness syndrome
see Cockayne syndrome
dysmyelinogenic leukodystrophy
see Alexander disease
Dystrophia myotonica
see myotonic dystrophy T 19
dystrophia retinae pigmentosa-dysostosis syndrome
see Usher syndrome
Early-Onset familial alzheimer disease (EOFAD)
see Alzheimer disease#type 1
see Alzheimer disease#type 3
see Alzheimer disease#type 4
EDS
see Ehlers–Danlos syndrome
Ehlers–Danlos syndrome
Ekman-Lobstein disease
see osteogenesis imperfecta
Entrapment neuropathy
see hereditary neuropathy with liability to pressure palsies
Sortable table
Disorder name Mutation type Chromosome
Epiloia
see tuberous sclerosis
EPP
see erythropoietic protoporphyria
Erythroblastic anemia
see beta-thalassemia
Erythrohepatic protoporphyria
see erythropoietic protoporphyria
Erythroid 5-aminolevulinate synthetase deficiency
see X-linked sideroblastic anemia
Erythropoietic porphyria
see congenital erythropoietic porphyria
erythropoietic protoporphyria
Erythropoietic uroporphyria
see congenital erythropoietic porphyria
Eye cancer
see retinoblastoma FA - Friedreich ataxia
see Friedreich's ataxia
FA
Sortable table
Disorder name Mutation type Chromosome
see fanconi anemia
Fabry disease P Xq22.1
Facial injuries and disorders
factor V Leiden thrombophilia
FALS
see amyotrophic lateral sclerosis
familial acoustic neuroma
see neurofibromatosis type II
familial adenomatous polyposis
familial Alzheimer disease (FAD)
see Alzheimer's disease
familial amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis
familial dysautonomia
familial fat-induced hypertriglyceridemia
see lipoprotein lipase deficiency, familial
Sortable table
Disorder name Mutation type Chromosome
familial hemochromatosis
see hemochromatosis
familial LPL deficiency
see lipoprotein lipase deficiency, familial
familial nonpolyposis colon cancer
see hereditary nonpolyposis colorectal cancer
familial paroxysmal polyserositis
see Mediterranean fever, familial
familial PCT
see porphyria cutanea tarda
familial pressure sensitive neuropathy
see hereditary neuropathy with liability to pressure palsies
familial primary pulmonary hypertension (FPPH)
see primary pulmonary hypertension
Familial Turner syndrome
see Noonan syndrome
familial vascular leukoencephalopathy
see CADASIL syndrome
FAP
Sortable table
Disorder name Mutation type Chromosome
see familial adenomatous polyposis
FD
see familial dysautonomia
Female pseudo-Turner syndrome
see Noonan syndrome
Ferrochelatase deficiency
see erythropoietic protoporphyria
ferroportin disease
see Haemochromatosis#type 4
Fever
see Mediterranean fever, familial
FG syndrome
FGFR3-associated coronal synostosis
see Muenke syndrome
Fibrinoid degeneration of astrocytes
see Alexander disease
Fibrocystic disease of the pancreas
see cystic fibrosis
Sortable table
Disorder name Mutation type Chromosome
FMF
see Mediterranean fever, familial
Folling disease
see phenylketonuria
fra(X) syndrome
see fragile X syndrome
Xq27.3
fragile X syndrome
Xq27.3
Fragilitas ossium
see osteogenesis imperfecta
FRAXA syndrome
see fragile X syndrome
Xq27.3
FRDA
see Friedreich's ataxia
Friedreich's ataxia
see Friedreich's ataxia
Friedreich's ataxia
FXS
see fragile X syndrome
Xq27.3
Sortable table
Disorder name Mutation type Chromosome
G6PD deficiency
Galactokinase deficiency disease
see galactosemia
Galactose-1-phosphate uridyl-transferase deficiency
disease
see galactosemia
galactosemia
Galactosylceramidase deficiency disease
see Krabbe disease
Galactosylceramide lipidosis
see Krabbe disease
galactosylcerebrosidase deficiency
see Krabbe disease
galactosylsphingosine lipidosis
see Krabbe disease
GALC deficiency
see Krabbe disease
GALT deficiency
Sortable table
Disorder name Mutation type Chromosome
see galactosemia
Gaucher disease
Gaucher-like disease
see pseudo-Gaucher disease
GBA deficiency
see Gaucher disease type 1
GD
see Gaucher's disease
Genetic brain disorders
genetic emphysema
see alpha 1-antitrypsin deficiency
genetic hemochromatosis
see hemochromatosis
Giant cell hepatitis, neonatal
see Neonatal hemochromatosis
GLA deficiency
see Fabry disease
Sortable table
Disorder name Mutation type Chromosome
Glioblastoma, retinal
see retinoblastoma
Glioma, retinal
see retinoblastoma
globoid cell leukodystrophy (GCL, GLD)
see Krabbe disease
globoid cell leukoencephalopathy
see Krabbe disease
Glucocerebrosidase deficiency
see Gaucher disease
Glucocerebrosidosis
see Gaucher disease
Glucosyl cerebroside lipidosis
see Gaucher disease
Glucosylceramidase deficiency
see Gaucher disease
Glucosylceramide beta-glucosidase deficiency
see Gaucher disease
Glucosylceramide lipidosis
Sortable table
Disorder name Mutation type Chromosome
see Gaucher disease
Glyceric aciduria
see hyperoxaluria, primary
Glycine encephalopathy
see Nonketotic hyperglycinemia
Glycolic aciduria
see hyperoxaluria, primary
GM2 gangliosidosis, type 1
see Tay-Sachs disease
Goiter-deafness syndrome
see Pendred syndrome
Graefe-Usher syndrome
see Usher syndrome
Gronblad-Strandberg syndrome
see pseudoxanthoma elasticum
Guenther porphyria
see congenital erythropoietic porphyria
Gunther disease
see congenital erythropoietic porphyria
Sortable table
Disorder name Mutation type Chromosome
Haemochromatosis
see hemochromatosis
Hallgren syndrome
see Usher syndrome
Harlequin type ichthyosis
Hb S disease
see sickle cell anemia
HCH
see hypochondroplasia
HCP
see hereditary coproporphyria
Head and brain malformations
Hearing disorders and deafness
Hearing problems in children
HEF2A
see hemochromatosis#type 2
HEF2B
Sortable table
Disorder name Mutation type Chromosome
see hemochromatosis#type 2
Hematoporphyria
see porphyria
Heme synthetase deficiency
see erythropoietic protoporphyria
Hemochromatoses
see hemochromatosis
hemochromatosis
hemoglobin M disease
see methemoglobinemia#beta-globin type
Hemoglobin S disease
see sickle cell anemia
hemophilia
HEP
see hepatoerythropoietic porphyria
hepatic AGT deficiency
see hyperoxaluria, primary
Sortable table
Disorder name Mutation type Chromosome
hepatoerythropoietic porphyria
Hepatolenticular degeneration syndrome
see Wilson disease
Hereditary arthro-ophthalmopathy
see Stickler syndrome
Hereditary coproporphyria P 3q12
Hereditary dystopic lipidosis
see Fabry disease
Hereditary hemochromatosis (HHC)
see hemochromatosis [4]
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary Inclusion Body Myopathy
see skeletal muscle regeneration
Hereditary iron-loading anemia
see X-linked sideroblastic anemia
Hereditary motor and sensory neuropathy
see Charcot-Marie-Tooth disease
Sortable table
Disorder name Mutation type Chromosome
Hereditary motor neuronopathy
see spinal muscular atrophy
Hereditary motor neuronopathy, type V
see distal spinal muscular atrophy, type V
Hereditary multiple exostoses
Hereditary nonpolyposis colorectal cancer
DNA mismatch repair
dysfunction
usually in MSH2 and MLH1
genes
usually chromosomes
2 and 3
Hereditary periodic fever syndrome
see Mediterranean fever, familial
Hereditary Polyposis Coli
see familial adenomatous polyposis
Hereditary pulmonary emphysema
see alpha 1-antitrypsin deficiency
Hereditary resistance to activated protein C
see factor V Leiden thrombophilia
Hereditary sensory and autonomic neuropathy type
III
see familial dysautonomia
Sortable table
Disorder name Mutation type Chromosome
Hereditary spastic paraplegia
see infantile-onset ascending hereditary spastic paralysis
Hereditary spinal ataxia
see Friedreich's ataxia
Hereditary spinal sclerosis
see Friedreich's ataxia
Herrick's anemia
see sickle cell anemia
Heterozygous OSMED
see Weissenbacher-Zweymüller syndrome
Heterozygous otospondylomegaepiphyseal
dysplasia
see Weissenbacher-Zweymüller syndrome
HexA deficiency
see Tay-Sachs disease
Hexosaminidase A deficiency
see Tay-Sachs disease
Hexosaminidase alpha-subunit deficiency (variant
B)
see Tay-Sachs disease
Sortable table
Disorder name Mutation type Chromosome
HFE-associated hemochromatosis
see hemochromatosis
HGPS
see Progeria
Hippel-Lindau disease
see von Hippel-Lindau disease
HLAH
see hemochromatosis
HMN V
see distal spinal muscular atrophy, type V
HMSN
see Charcot-Marie-Tooth disease
HNPCC
see hereditary nonpolyposis colorectal cancer
HNPP
see hereditary neuropathy with liability to pressure palsies
homocystinuria
Homogentisic acid oxidase deficiency
Sortable table
Disorder name Mutation type Chromosome
see alkaptonuria
Homogentisic acidura
see alkaptonuria
Homozygous porphyria cutanea tarda
see hepatoerythropoietic porphyria
HP1
see hyperoxaluria, primary
HP2
see hyperoxaluria, primary
HPA
see hyperphenylalaninemia
HPRT - Hypoxanthine-guanine
phosphoribosyltransferase deficiency
see Lesch-Nyhan syndrome
HSAN type III
see familial dysautonomia
HSAN3
see familial dysautonomia
HSN-III
Sortable table
Disorder name Mutation type Chromosome
see familial dysautonomia
Human dermatosparaxis
see Ehlers–Danlos syndrome#dermatosparaxis type
Huntington's disease T 4p16.3
Hutchinson-Gilford progeria syndrome
see progeria
Hyperandrogenism, nonclassic type, due to 21-
hydroxylase deficiency
see 21-hydroxylase deficiency
Hyperchylomicronemia, familial
see lipoprotein lipase deficiency, familial
Hyperglycinemia with ketoacidosis and leukopenia
see propionic acidemia
Hyperlipoproteinemia type I
see lipoprotein lipase deficiency, familial
hyperoxaluria, primary
hyperphenylalaninaemia
see hyperphenylalaninemia
Sortable table
Disorder name Mutation type Chromosome
hyperphenylalaninemia
Hypochondrodysplasia
see hypochondroplasia
Hypochondrogenesis
Hypochondroplasia
4p16.3
Hypochromic anemia
see X-linked sideroblastic anemia
Hypocupremia, congenital
see Menkes disease
Hypoxanthine phosphoribosyltransferse (HPRT)
deficiency
see Lesch-Nyhan syndrome
IAHSP
see infantile-onset ascending hereditary spastic paralysis
ICF syndrome
see Immunodeficiency, centromere instability and facial anomalies
syndrome
20q11.2
Idiopathic hemochromatosis
Sortable table
Disorder name Mutation type Chromosome
see hemochromatosis, type 3
Idiopathic neonatal hemochromatosis
see hemochromatosis, neonatal
Idiopathic pulmonary hypertension
see primary pulmonary hypertension
Immune system disorders
see X-linked severe combined immunodeficiency
Incontinentia pigmenti P Xq28
Infantile cerebral Gaucher's disease
see Gaucher disease type 2
Infantile Gaucher disease
see Gaucher disease type 2
infantile-onset ascending hereditary spastic
paralysis
Infertility
inherited emphysema
see alpha 1-antitrypsin deficiency
Sortable table
Disorder name Mutation type Chromosome
Inherited human transmissible spongiform
encephalopathies
see prion disease
inherited tendency to pressure palsies
see hereditary neuropathy with liability to pressure palsies
Insley-Astley syndrome
see otospondylomegaepiphyseal dysplasia
Intermittent acute porphyria syndrome
see acute intermittent porphyria
Intestinal polyposis-cutaneous pigmentation
syndrome
see Peutz–Jeghers syndrome
IP
see incontinentia pigmenti
Iron storage disorder
see hemochromatosis
Isodicentric 15
see isodicentric 15 Inv dup 15q11-14
Isolated deafness
see nonsyndromic deafness
Sortable table
Disorder name Mutation type Chromosome
Jackson-Weiss syndrome
JH
see Haemochromatosis#type 2
Joubert syndrome
JPLS
see Juvenile Primary Lateral Sclerosis
ALS2
juvenile amyotrophic lateral sclerosis
see Amyotrophic lateral sclerosis#type 2
Juvenile gout, choreoathetosis, mental retardation
syndrome
see Lesch-Nyhan syndrome
juvenile hyperuricemia syndrome
see Lesch-Nyhan syndrome
JWS
see Jackson-Weiss syndrome
KD
see X-linked spinal-bulbar muscle atrophy
Kennedy disease
Sortable table
Disorder name Mutation type Chromosome
see X-linked spinal-bulbar muscle atrophy
Kennedy spinal and bulbar muscular atrophy
see X-linked spinal-bulbar muscle atrophy
Kerasin histiocytosis
see Gaucher disease
Kerasin lipoidosis
see Gaucher disease
Kerasin thesaurismosis
see Gaucher disease
ketotic glycinemia
see propionic acidemia
ketotic hyperglycinemia
see propionic acidemia
Kidney diseases
see hyperoxaluria, primary
Klinefelter syndrome
Klinefelter syndrome
see Klinefelter syndrome
Sortable table
Disorder name Mutation type Chromosome
Kniest dysplasia
Krabbe disease
Lacunar dementia
see CADASIL syndrome
Langer-Saldino achondrogenesis
see achondrogenesis, type II
Langer-Saldino dysplasia
see achondrogenesis, type II
Late-onset Alzheimer disease
see Alzheimer disease#type 2
Late-onset familial Alzheimer disease (AD2)
see Alzheimer disease#type 2
late-onset Krabbe disease (LOKD)
see Krabbe disease
Learning Disorders
see Learning disability
Lentiginosis, perioral
see Peutz-Jeghers syndrome
Sortable table
Disorder name Mutation type Chromosome
Lesch-Nyhan syndrome
Leukodystrophies
leukodystrophy with Rosenthal fibers
see Alexander disease
Leukodystrophy, spongiform
see Canavan disease
LFS
see Li-Fraumeni syndrome
Li-Fraumeni syndrome
Lipase D deficiency
see lipoprotein lipase deficiency, familial
LIPD deficiency
see lipoprotein lipase deficiency, familial
Lipidosis, cerebroside
see Gaucher disease
Lipidosis, ganglioside, infantile
see Tay-Sachs disease
Sortable table
Disorder name Mutation type Chromosome
Lipoid histiocytosis (kerasin type)
see Gaucher disease
lipoprotein lipase deficiency, familial
Liver diseases
see galactosemia
Lou Gehrig disease
see amyotrophic lateral sclerosis
Louis-Bar syndrome
see ataxia telangiectasia
Lynch syndrome
see hereditary nonpolyposis colorectal cancer
Lysyl-hydroxylase deficiency
see Ehlers–Danlos syndrome#kyphoscoliosis type
Machado-Joseph disease
see Spinocerebellar ataxia#type 3
Male breast cancer
see breast cancer
Male genital disorders
Sortable table
Disorder name Mutation type Chromosome
Male Turner syndrome
see Noonan syndrome
Malignant neoplasm of breast
see breast cancer
malignant tumor of breast
see breast cancer
Malignant tumor of urinary bladder
see bladder cancer
Mammary cancer
see breast cancer
Marfan syndrome
15
Marker X syndrome
see fragile X syndrome
Martin-Bell syndrome
see fragile X syndrome
McCune–Albright syndrome
20 q13.2-13.3
McLeod syndrome
X
Sortable table
Disorder name Mutation type Chromosome
MEDNIK [5]
D AP1S1
Mediterranean Anemia
see beta-thalassemia
Mediterranean fever, familial
Mega-epiphyseal dwarfism
see otospondylomegaepiphyseal dysplasia
Menkea syndrome
see Menkes disease
Menkes disease
Mental retardation with osteocartilaginous
abnormalities
see Coffin-Lowry syndrome
Metabolic disorders
Metatropic dwarfism, type II
see Kniest dysplasia
Metatropic dysplasia type II
see Kniest dysplasia
Sortable table
Disorder name Mutation type Chromosome
Methemoglobinemia#beta-globin type
methylmalonic acidemia
MFS
see Marfan syndrome
MHAM
see Cowden syndrome
MK
see Menkes disease
Micro syndrome
2q21.3
Microcephaly P 1q31 (ASPM)
MMA
see methylmalonic acidemia
MNK
see Menkes disease
Monosomy 1p36 syndrome
see 1p36 deletion syndrome D 1p36
monosomy X
Sortable table
Disorder name Mutation type Chromosome
see Turner syndrome
Motor neuron disease, amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis
Movement disorders
Mowat-Wilson syndrome
Mucopolysaccharidosis (MPS I)
Mucoviscidosis
see cystic fibrosis
Muenke syndrome
Multi-Infarct dementia
see CADASIL syndrome
Multiple carboxylase deficiency, late-onset
see biotinidase deficiency
Multiple hamartoma syndrome
see Cowden syndrome
Multiple neurofibromatosis
see neurofibromatosis
Sortable table
Disorder name Mutation type Chromosome
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
Myotonia atrophica
see myotonic dystrophy
Myotonia dystrophica
see myotonic dystrophy
myotonic dystrophy
Myxedema, congenital
see congenital hypothyroidism
Nance-Insley syndrome
see otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia
see otospondylomegaepiphyseal dysplasia
NBIA1
see pantothenate kinase-associated neurodegeneration
Neill-Dingwall syndrome
see Cockayne syndrome
Sortable table
Disorder name Mutation type Chromosome
Neuroblastoma, retinal
see retinoblastoma
Neurodegeneration with brain iron accumulation
type 1
see pantothenate kinase-associated neurodegeneration
Neurofibromatosis type I
17q11.2
Neurofibromatosis type II
Neurologic diseases
Neuromuscular disorders
neuronopathy, distal hereditary motor, type V
see Distal spinal muscular atrophy#type V
neuronopathy, distal hereditary motor, with
pyramidal features
see Amyotrophic lateral sclerosis#type 4
Niemann-Pick
see Niemann–Pick disease
NPA, NPB, NPC1, NPC2,
Sphingomyelin
phosphodiesterase 1
SMPD1
Noack syndrome
Sortable table
Disorder name Mutation type Chromosome
see Pfeiffer syndrome
Nonketotic hyperglycinemia
see Glycine encephalopathy
Non-neuronopathic Gaucher disease
see Gaucher disease type 1
Non-phenylketonuric hyperphenylalaninemia
see tetrahydrobiopterin deficiency
nonsyndromic deafness
Noonan syndrome
Norrbottnian Gaucher disease
see Gaucher disease type 3
Ochronosis
see alkaptonuria
Ochronotic arthritis
see alkaptonuria
OI
see osteogenesis imperfecta
Sortable table
Disorder name Mutation type Chromosome
Osler-Weber-Rendu disease
see Hereditary hemorrhagic telangiectasia
OSMED
see otospondylomegaepiphyseal dysplasia
osteogenesis imperfecta
Osteopsathyrosis
see osteogenesis imperfecta
Osteosclerosis congenita
see achondroplasia
Oto-spondylo-megaepiphyseal dysplasia
see otospondylomegaepiphyseal dysplasia
otospondylomegaepiphyseal dysplasia
Oxalosis
see hyperoxaluria, primary
Oxaluria, primary
see hyperoxaluria, primary
pantothenate kinase-associated neurodegeneration
Sortable table
Disorder name Mutation type Chromosome
Patau Syndrome (Trisomy 13)
PBGD deficiency
see acute intermittent porphyria
PCC deficiency
see propionic acidemia
PCT
see porphyria cutanea tarda
PDM
see Myotonic dystrophy#type 2
Pendred syndrome
Periodic disease
see Mediterranean fever, familial
Periodic peritonitis
see Mediterranean fever, familial
Periorificial lentiginosis syndrome
see Peutz-Jeghers syndrome
Peripheral nerve disorders
see familial dysautonomia
Sortable table
Disorder name Mutation type Chromosome
Peripheral neurofibromatosis
see neurofibromatosis type I
Peroneal muscular atrophy
see Charcot-Marie-Tooth disease
peroxisomal alanine:glyoxylate aminotransferase
deficiency
see hyperoxaluria, primary
Peutz-Jeghers syndrome
Pfeiffer syndrome
Phenylalanine hydroxylase deficiency disease
see phenylketonuria
phenylketonuria
Pheochromocytoma
see von Hippel-Lindau disease
Pierre Robin syndrome with fetal chondrodysplasia
see Weissenbacher-Zweymüller syndrome
Pigmentary cirrhosis
see hemochromatosis
Sortable table
Disorder name Mutation type Chromosome
PJS
see Peutz-Jeghers syndrome
PKAN
see pantothenate kinase-associated neurodegeneration
PKU
see phenylketonuria
Plumboporphyria
see ALA deficiency porphyria
PMA
see Charcot-Marie-tooth disease
Polycystic kidney disease P 16 (PKD1) or 4 (PKD2)
polyostotic fibrous dysplasia
see McCune–Albright syndrome
20 q13.2-13.3
polyposis coli
see familial adenomatous polyposis
polyposis, hamartomatous intestinal
see Peutz-Jeghers syndrome
polyposis, intestinal, II
Sortable table
Disorder name Mutation type Chromosome
see Peutz-Jeghers syndrome
polyps-and-spots syndrome
see Peutz-Jeghers syndrome
Porphobilinogen synthase deficiency
see ALA deficiency porphyria
porphyria
porphyrin disorder
see porphyria
PPH
see primary pulmonary hypertension
PPOX deficiency
see variegate porphyria
Prader-Labhart-Willi syndrome
see Prader-Willi syndrome
Prader-Willi syndrome
presenile and senile dementia
see Alzheimer's disease
Sortable table
Disorder name Mutation type Chromosome
primary hemochromatosis
see hemochromatosis
primary hyperuricemia syndrome
see Lesch-Nyhan syndrome
primary pulmonary hypertension
primary senile degenerative dementia
see Alzheimer's disease
prion disease
procollagen type EDS VII, mutant
see Ehlers–Danlos syndrome#arthrochalasia type
progeria
see Hutchinson Gilford Progeria Syndrome
Progeria-like syndrome
see Cockayne syndrome
progeroid nanism
see Cockayne syndrome
progressive chorea, chronic hereditary (Huntington)
see Huntington's disease
Sortable table
Disorder name Mutation type Chromosome
progressive muscular atrophy
see spinal muscular atrophy
progressively deforming osteogenesis imperfecta
with normal sclerae
see Osteogenesis imperfecta#Type III
PROMM
see Myotonic dystrophy#type 2
propionic acidemia
propionyl-CoA carboxylase deficiency
see propionic acidemia
protein C deficiency
protein S deficiency
protoporphyria
see erythropoietic protoporphyria
protoporphyrinogen oxidase deficiency
see variegate porphyria
proximal myotonic dystrophy
see Myotonic dystrophy#type 2
Sortable table
Disorder name Mutation type Chromosome
proximal myotonic myopathy
see Myotonic dystrophy#type 2
pseudo-Gaucher disease
pseudo-Ullrich-Turner syndrome
see Noonan syndrome
pseudoxanthoma elasticum
psychosine lipidosis
see Krabbe disease
pulmonary arterial hypertension
see primary pulmonary hypertension
pulmonary hypertension
see primary pulmonary hypertension
PWS
see Prader-Willi syndrome
PXE - pseudoxanthoma elasticum
see pseudoxanthoma elasticum
Rb
see retinoblastoma
Sortable table
Disorder name Mutation type Chromosome
Recklinghausen disease, nerve
see neurofibromatosis type I
Recurrent polyserositis
see Mediterranean fever, familial
Retinal disorders
Retinitis pigmentosa-deafness syndrome
see Usher syndrome
Retinoblastoma
Rett syndrome
RFALS type 3
see Amyotrophic lateral sclerosis#type 2
Ricker syndrome
see Myotonic dystrophy#type 2
Riley-Day syndrome
see familial dysautonomia
Roussy-Levy syndrome
see Charcot-Marie-Tooth disease
Sortable table
Disorder name Mutation type Chromosome
RSTS
see Rubinstein-Taybi syndrome
RTS
see Rett syndrome
see Rubinstein-Taybi syndrome
RTT
see Rett syndrome
Rubinstein-Taybi syndrome
Sack-Barabas syndrome
see Ehlers–Danlos syndrome, vascular type
SADDAN
sarcoma family syndrome of Li and Fraumeni
see Li-Fraumeni syndrome
sarcoma, breast, leukemia, and adrenal gland
(SBLA) syndrome
see Li-Fraumeni syndrome
SBLA syndrome
see Li-Fraumeni syndrome
SBMA
Sortable table
Disorder name Mutation type Chromosome
see X-linked spinal-bulbar muscle atrophy
SCD
see sickle cell anemia
Schwannoma, acoustic, bilateral
see neurofibromatosis type II
SCIDX1
see X-linked severe combined immunodeficiency
sclerosis tuberosa
see tuberous sclerosis
SDAT
see Alzheimer's disease
SED congenita
see spondyloepiphyseal dysplasia congenita
SED Strudwick
see spondyloepimetaphyseal dysplasia, Strudwick type
SEDc
see spondyloepiphyseal dysplasia congenita
SEMD, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
Sortable table
Disorder name Mutation type Chromosome
senile dementia
see Alzheimer disease#type 2
severe achondroplasia with developmental delay
and acanthosis nigricans
see SADDAN
Shprintzen syndrome
see 22q11.2 deletion syndrome D 22q
sickle cell anemia D 18q
Siderius X-linked mental retardation syndrome
caused by mutations in the PHF8 gene PD Xp11.22
skeleton-skin-brain syndrome
see SADDAN
Skin pigmentation disorders
SMA
see spinal muscular atrophy
SMED, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
SMED, type I
Sortable table
Disorder name Mutation type Chromosome
see spondyloepimetaphyseal dysplasia, Strudwick type
Smith-Lemli-Opitz syndrome
Smith Magenis Syndrome
South-African genetic porphyria
see variegate porphyria
spastic paralysis, infantile onset ascending
see infantile-onset ascending hereditary spastic paralysis
Speech and communication disorders
sphingolipidosis, Tay-Sachs
see Tay-Sachs disease
spinal-bulbar muscular atrophy
spinal muscular atrophy
spinal muscular atrophy, distal type V
see Distal spinal muscular atrophy#type V
spinal muscular atrophy, distal, with upper limb
predominance
see Distal spinal muscular atrophy#type V
Sortable table
Disorder name Mutation type Chromosome
spinocerebellar ataxia
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia
see collagenopathy, types II and XI
spondylometaepiphyseal dysplasia congenita,
Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
spondylometaphyseal dysplasia (SMD)
see spondyloepimetaphyseal dysplasia, Strudwick type
spondylometaphyseal dysplasia, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
spongy degeneration of central nervous system
see Canavan disease
spongy degeneration of the brain
see Canavan disease
spongy degeneration of white matter in infancy
see Canavan disease
Sortable table
Disorder name Mutation type Chromosome
sporadic primary pulmonary hypertension
see primary pulmonary hypertension
SSB syndrome
see SADDAN
steely hair syndrome
see Menkes disease
Steinert disease
see myotonic dystrophy
Steinert myotonic dystrophy syndrome
see myotonic dystrophy
Stickler syndrome
stroke
see CADASIL syndrome
Strudwick syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
subacute neuronopathic Gaucher disease
see Gaucher disease type 3
Swedish genetic porphyria
Sortable table
Disorder name Mutation type Chromosome
see acute intermittent porphyria
Swedish porphyria
see acute intermittent porphyria
Swiss cheese cartilage dysplasia
see Kniest dysplasia
Tay-Sachs disease
TD - thanatophoric dwarfism
see thanatophoric dysplasia
TD with straight femurs and cloverleaf skull
see thanatophoric dysplasia#Type 2
Telangiectasia, cerebello-oculocutaneous
see ataxia telangiectasia
Testicular feminization syndrome
see androgen insensitivity syndrome
tetrahydrobiopterin deficiency
TFM - testicular feminization syndrome
see androgen insensitivity syndrome
Sortable table
Disorder name Mutation type Chromosome
thalassemia intermedia
see beta-thalassemia
Thalassemia Major
see beta-thalassemia
thanatophoric dysplasia
Thrombophilia due to deficiency of cofactor for
activated protein C, Leiden type
see factor V Leiden thrombophilia
Thyroid disease
Tomaculous neuropathy
see hereditary neuropathy with liability to pressure palsies
Total HPRT deficiency
see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl
transferase deficiency
see Lesch-Nyhan syndrome
Transmissible dementias
see prion disease
Transmissible spongiform encephalopathies
Sortable table
Disorder name Mutation type Chromosome
see prion disease
Treacher Collins syndrome
5q32-q33.1
Trias fragilitis ossium
see osteogenesis imperfecta#Type I
triple X syndrome
Triplo X syndrome
see triple X syndrome
Trisomy 21
see Down syndrome
Trisomy X
see triple X syndrome
Troisier-Hanot-Chauffard syndrome
see hemochromatosis
TS
see Turner syndrome
TSD
see Tay-Sachs disease
Sortable table
Disorder name Mutation type Chromosome
TSEs
see prion disease
tuberose sclerosis
see tuberous sclerosis
tuberous sclerosis
Turner syndrome
Turner syndrome in female with X chromosome
see Noonan syndrome
Turner's phenotype, karyotype normal
see Noonan syndrome
Turner's syndrome
see Turner syndrome
Turner-like syndrome
see Noonan syndrome
Type 2 Gaucher disease
see Gaucher disease type 2
Type 3 Gaucher disease
see Gaucher disease type 3
Sortable table
Disorder name Mutation type Chromosome
UDP-galactose-4-epimerase deficiency disease
see galactosemia
UDP glucose 4-epimerase deficiency disease
see galactosemia
UDP glucose hexose-1-phosphate
uridylyltransferase deficiency
see galactosemia
Ullrich-Noonan syndrome
see Noonan syndrome
Ullrich-Turner syndrome
see Turner syndrome
Undifferentiated deafness
see nonsyndromic deafness
UPS deficiency
see acute intermittent porphyria
Urinary bladder cancer
see bladder cancer
UROD deficiency
see porphyria cutanea tarda
Sortable table
Disorder name Mutation type Chromosome
Uroporphyrinogen decarboxylase deficiency
see porphyria cutanea tarda
Uroporphyrinogen synthase deficiency
see acute intermittent porphyria
UROS deficiency
see congenital erythropoietic porphyria
Usher syndrome
UTP hexose-1-phosphate uridylyltransferase
deficiency
see galactosemia
Van Bogaert-Bertrand syndrome
see Canavan disease
Van der Hoeve syndrome
see osteogenesis imperfecta#Type I
variegate porphyria
Velocardiofacial syndrome
see 22q11.2 deletion syndrome D 22q
VHL syndrome
Sortable table
Disorder name Mutation type Chromosome
see von Hippel-Lindau disease
Vision impairment and blindness
see Alström syndrome
Von Bogaert-Bertrand disease
see Canavan disease
von Hippel-Lindau disease
Von Recklenhausen-Applebaum disease
see hemochromatosis
von Recklinghausen disease
see neurofibromatosis type I
VP
see variegate porphyria
Vrolik disease
see osteogenesis imperfecta
Waardenburg syndrome
Warburg Sjo Fledelius Syndrome
see Micro syndrome
2q21.3
Sortable table
Disorder name Mutation type Chromosome
WD
see Wilson disease
Weissenbacher-Zweymüller syndrome
Williams Syndrome
Wilson disease
Wilson's disease
see Wilson disease
Wolf–Hirschhorn syndrome D 4p
Wolff Periodic disease
see Mediterranean fever, familial
WZS
see Weissenbacher-Zweymüller syndrome
Xeroderma pigmentosum ERCC4 15
X-linked mental retardation and macroorchidism
see fragile X syndrome
X-linked primary hyperuricemia
Sortable table
Disorder name Mutation type Chromosome
see Lesch-Nyhan syndrome
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked spinal-bulbar muscle atrophy
see Kennedy's disease
X-linked uric aciduria enzyme defect
see Lesch-Nyhan syndrome
X-SCID
see X-linked severe combined immunodeficiency
XLSA
see X-linked sideroblastic anemia
XSCID
see X-linked severe combined immunodeficiency
XXX syndrome
see triple X syndrome
XXXX syndrome
see 48, XXXX
Sortable table
Disorder name Mutation type Chromosome
XXXXX syndrome
see 49, XXXXX
XXY syndrome
see Klinefelter syndrome
XXY trisomy
see Klinefelter syndrome
XYY karyotype
see 47,XYY syndrome
XYY syndrome
see 47,XYY syndrome
YY syndrome
see 47,XYY syndrome
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