Disease Gene Chromosomal region Accession No.
|
DISEASE
|
GENE
|
CHROMOSOMAL REGION (LOCUS)
|
ACCESSION NO.
|
% IN
|
MUTATIONS
|
|
HEARING DISORDERS (DEAFNESS)
|
|
|
|
|
|
|
Autosomal recessive
Non-syndromic hearing
impairment (ARNSHI)
|
DFNB65
|
20q13.2-q13.32.
|
692219
|
|
|
|
Non-syndromic recessive
deafness
|
TRIOBP/DFNB28
|
22q13.1
|
11078
|
|
|
|
Autosomal recessive
Non-syndromic deafness
|
TMPRSS3/DFNB8-10
|
21q22.3
|
64699
|
1.8%
|
|
|
Non-syndromic hearing
loss (NSHL) sensorineural
hearing loss
|
GJB2 /DFNB1
(Cx26)
(connexin 26)
|
13q11-12
|
4481752
|
|
W24X, W77X, Q124X
|
|
Autosomal recessive non-syndromic hearing
impairment
|
DFNB38
|
6q26-q27
|
337991
|
|
|
|
Congenital deafness
|
DFNB37(MYO6) (Myosin 6)
|
6q13
|
4646
|
|
|
|
Usher syndrome (USH)
|
USH1C/
DFNB18
|
11p15.1
|
10083
|
|
15 mutations
|
|
Usher syndrome type 1F
and Non-syndromic recessive deafness
|
PCDH15/DFNB23
|
10q21-22
|
65217
|
|
R3X and IVS27-2A>G
A transition mutation (G262D, exon 8)
|
|
Autosomal recessive
non-syndromic deafness
(pre lingual-non
progressive)
|
DFNB35
|
14q24.1-14q24.3
|
246148
|
|
|
|
Severe hearing loss in a
patient with Smith-Magenis syndrome
|
MYO15A/DFNB13
|
17p11.2
|
51168
|
|
|
|
Autosomal recessive,
non-syndromal sensorineural hearing loss
|
DFNB20
|
11q25-qter
|
1713
|
|
|
|
Non-syndromal, autosomal
recessive, sensorineural
hearing loss
|
DFNB16/STRC
|
15q15-22.
|
|
|
|
|
GJB2/DFNB1
(Cx26)
|
13q11-12
|
2706
|
27 families
|
GJB6 (Cx30)
|
|
|
Non-syndromic recessive deafness
|
DFNB7/11 TMC1
|
9q13-21
|
117531
|
|
|
|
Autosomal recessive
nonsyndromic deafness
(postlingual-progresseive)
|
DFNB8
DFNB13
|
7q34-q36
|
1705
|
|
|
|
Autosomal recessive nonsyndromic deafness
|
TRIOBP-6
DFNB28
|
22q13.1
|
11078
|
|
Q297X, R788X, R1068X,
R1117X,
D1069fsX1082, R1078fsX1083
|
|
Novel association of hypertrophic cardiomyopathy,
sensorineural deafness, and a mutation in unconventional myosin VI
|
MYO6
|
6q13
|
4646
|
|
|
|
PHOTO-RECEPTORSDISORDERS
|
|
|
|
|
|
|
Hereditary conereceptor disorder
|
CNGA-1
|
chromosome 2q11.
|
71143140
|
|
F547L
|
|
Autosomal dominant Retinitis Pigmentosa(arRP)
|
RP30
|
1p13.3-p21.2(10.5 cM /8.9 Mbp region)
|
|
|
|
|
Autosomal dominant Retinitis Pigmentosa(arRP)
|
RP25
|
chr 6q15
|
8414
|
|
|
|
Autosomal recessive RP
|
RP29
|
chr
4q32-q34
|
54110
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
arRP
|
RP1
|
8q11
|
6101
|
|
c.4703delA
c.5400delA
|
|
Autosomal recessive complete achromatopsia
|
CNGA3
|
chromosome 2q11.2
|
1261
|
|
F547L
|
|
Leber congenital amaurosis, autosomal recessive(LCA)
|
LCA9/ AIPL1
|
1p36/17p13.2
|
619483 /23746
|
|
Trp 278X
|
|
Rrecessively inherited degeneration of the retinal pigment epithelium
|
RBP4
|
10q23.33
|
5950
|
|
|
|
arRP
|
|
chr 1q
|
|
|
|
|
CORD(Cone-rod retinal dystrophy)
|
CORD8
|
1q23.1-q23.3
|
|
|
|
|
Variant form of Oguchi disease
|
GRK1
|
13q34
|
6011
|
|
|
|
ANEMIC DISORDERS
|
|
|
|
|
|
|
HBB
|
HBB, Human
|
|
28302128
|
|
|
|
Beta thalassemia
|
|
|
|
5.6%
punjab
|
IVSI-5 (G-C) (37.3%), Fr 8-9 (+G) (25.9%),
Cd126-131 deletion
IVS-II-848 (C-->A),
IVS-I-1 (G-->T)
|
|
db-thalassemia
|
|
|
|
|
|
|
Hereditary aplastic anemia
|
Trisomy 8
|
|
|
22.5%
|
22q-, t(14;22) and t(15;21)
|
|
Hereditary spherocytosis
|
4.2gene(EPB42)
|
15q15-q21
|
2038
|
|
CD47
|
|
COAGULATION DISORDERS
|
|
|
|
|
|
|
Factor X deficiency
|
Factor X
|
chromosome 13q34
|
2159
|
3.5% (
|
CRM+, CRM-, CRMred
|
|
Factor FXIII
|
|
|
|
|
Val316Phe
Gly262Glu
|
|
Genetic deficiency of FVIII -
classic hemophilia (hemophilia A)
|
F5F8D
|
chromosome 18q
|
|
LMAN1 (ERGIC-53)
MCFD2
|
|
|
Familial thrombophilia
antithrombin 111 (AT III) deficiency
|
|
|
|
6.2%
|
|
|
hereditary thrombophilia
|
|
|
|
2.3% for protein C deficiency, 1.4% for protein S deficiency, 1.5%
for antithrombin III deficiency, 14.2% for factor V leiden mutation and 2.0%
for homocystenemia
|
|
|
Thromboembolism(Hereditary
deficiency of Antithrombin III)
|
ATIII
|
1q23-q25.1
|
462
|
4.6%
|
|
|
Thrombophillia in
thromboembolism
|
factor V gene (factor V Leiden)
|
1q23
|
2153
|
10-60% cases of thromboembolism
|
R506Q
|
|
METABOLIC DISORDERS
|
|
|
|
|
|
|
Hereditary congenital hyperammonemias
|
|
|
|
|
|
|
Hereditary diabetes (Type II)
|
(ENPP1)PC-1 K121Q
|
exon 4
|
5167
|
|
|
|
X-linked Red cell glucose-6-phosphate dehydrogenase (G6PD)
|
|
X chromosome
|
|
|
563 (the Mediterranean mutation)
|
|
CARDIOVASCULAR DISEASES:
|
|
|
|
|
|
|
Cardiovascular disorders (Hypoalphalipoproteinemia)
|
ABCA1
gene
|
R219 allele and L825 allele
|
19
|
|
R219K and V825L polymorphisms
|
|
OTHERS
|
|
|
|
|
|
|
Spondyloepimetaphyseal dysplasia (SEMD)
|
|
|
|
16 individuals
|
|
MORM
syndrome (mental retardation, truncal obesity,
retinal dystrophy and micropenis)
|
BBS8 gene
|
9q34.3
|
|
14 individuals
|
|
|
Hereditary congenital facial
palsy (HCFP)
|
HCFP1,
PODXL2, PLEXIN-D1, GATA-2, and TMCC1
|
3q21.2–q22.1
|
7880
50512
2624
23023
|
|
|
|
Autosomal recessive hereditary
hypotrichosis
|
|
18q21.1
|
|
|
|
|
Autosomal recessive Alopecia with mental retardation syndrome
|
|
3q26.33-q27.3
|
|
|
|
|
Keratoconus
|
|
chromosomes 16q and 20q
|
|
|
|
|
Rheumatoid arthritis
|
HLA-DR genes HLA-DRB1(3AHVR),HLA-DR4,HLA-DR5,HLA-DR10,HLA-DR15,HLA-
|
6p21.3
|
3126
3127
|
|
|
|
Hereditary spastic paraparesis with distal muscle wasting,
microcephaly, mental retardation, arachnodactyly and tremors
|
|
|
|
4patients
|
|
|
Autosomal recessive Micro syndrome
|
|
|
|
3 children
|
|
|
Congenital adrenal hyper plasia
|
|
|
|
|
|
|
Hereditary Hemochromatosis
|
|
|
|
|
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