MCID: CTR130
MIFTS: 41

Cataract 9, Multiple Types

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases

Aliases & Classifications for Cataract 9, Multiple Types

MalaCards integrated aliases for Cataract 9, Multiple Types:

Name: Cataract 9, Multiple Types 53 71 13
Cataract, Autosomal Dominant 53 28 51 69
Cataract, Autosomal Recessive Congenital 1 53 28 69
Ctrct9 53 12 71
Catc1 53 12 71
Cataract 9, Multiple Types, with or Without Microcornea 53 71
Autosomal Recessive Congenital Cataract 1 12 71
Cataract 9 Multiple Types 12 14
Cataract 9 Multiple Types with or Without Microcornea 12
Cataract, Autosomal Recessive Congenital 1; Catc1 53
Autosomal Dominant Congenital Cataract 71
Cataracts, Autosomal Dominant 28
Cataract Autosomal Dominant 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
cataract 9, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cataract 9, Multiple Types

UniProtKB/Swiss-Prot : 71 Cataract 9, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

MalaCards based summary : Cataract 9, Multiple Types, also known as cataract, autosomal dominant, is related to cataract and deafness progressive cataract autosomal dominant, and has symptoms including nystagmus, cataract and visual impairment. An important gene associated with Cataract 9, Multiple Types is CRYAA (Crystallin Alpha A). Affiliated tissues include eye, and related phenotype is Increased cell number in S.

OMIM : 53 Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene. (604219)

Disease Ontology : 12 A cataract that has material basis in heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.

Related Diseases for Cataract 9, Multiple Types

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 46, Juvenile-Onset Cataract 40
Cataract 10, Multiple Types Cataract 24
Cataract 3, Multiple Types Cataract 14, Multiple Types
Cataract 9, Multiple Types Cataract 2, Multiple Types
Cataract 31, Multiple Types Cataract 25
Cataract 26, Multiple Types Cataract 27
Cataract 28 Cataract 35
Cataract 22, Multiple Types Cataract 18
Cataract 21, Multiple Types Cataract 23, Multiple Types
Cataract 11, Multiple Types Cataract 33, Multiple Types
Cataract 17, Multiple Types Cataract 12, Multiple Types
Cataract 47 Cataract 34, Multiple Types
Cataract 16, Multiple Types Cataract 36
Cataract 37 Cataract 38
Cataract 39, Multiple Types Cataract 15, Multiple Types
Cataract 19, Multiple Types Cataract 43
Cataract 44 Cataract 45
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 9, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 cataract 29.0 CRYAA CRYBB1 CRYBB2 GJA8
2 deafness progressive cataract autosomal dominant 11.9
3 optic atrophy 3, autosomal dominant 11.3
4 cataract 37 11.0
5 edict syndrome 10.9
6 cataract 25 9.8 CRYBB2 GJA8
7 mature cataract 9.8 CRYAA CRYBB2
8 cataract 44 9.7 CRYAA CRYBB2 GJA8
9 cataract 30, multiple types 9.6 CRYBB1 CRYBB2 GJA8
10 early-onset nuclear cataract 9.4 CRYAA CRYBB1 CRYBB2 GJA8
11 cataract microcornea syndrome 9.4 CRYAA CRYBB1 CRYBB2 GJA8
12 lens disease 9.4 CRYAA CRYBB1 CRYBB2 GJA8
13 cataract 18 9.2 CDKN3 MCIDAS TYRP1

Graphical network of the top 20 diseases related to Cataract 9, Multiple Types:



Diseases related to Cataract 9, Multiple Types

Symptoms & Phenotypes for Cataract 9, Multiple Types

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
nystagmus
strabismus
glaucoma
amblyopia
microcornea (in some patients)
more

Clinical features from OMIM:

604219

Human phenotypes related to Cataract 9, Multiple Types:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 cataract 31 HP:0000518
3 visual impairment 31 HP:0000505
4 strabismus 31 HP:0000486
5 microphthalmia 31 occasional (7.5%) HP:0000568
6 glaucoma 31 HP:0000501
7 amblyopia 31 HP:0000646
8 iris coloboma 31 occasional (7.5%) HP:0000612
9 microcornea 31 occasional (7.5%) HP:0000482
10 congenital cataract 31 HP:0000519
11 progressive cataract 31 occasional (7.5%) HP:0007834

GenomeRNAi Phenotypes related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell number in S GR00096-A 8.8 CDKN3 CRYBB1 GJA8

Drugs & Therapeutics for Cataract 9, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 9, Multiple Types

Genetic Tests for Cataract 9, Multiple Types

Genetic tests related to Cataract 9, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract, Autosomal Recessive Congenital 1 28
2 Cataracts, Autosomal Dominant 28
3 Cataract, Autosomal Dominant 28 CRYAA

Anatomical Context for Cataract 9, Multiple Types

MalaCards organs/tissues related to Cataract 9, Multiple Types:

38
Eye

Publications for Cataract 9, Multiple Types

Articles related to Cataract 9, Multiple Types:

(show all 44)
# Title Authors Year
1
A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract. ( 29434075 )
2018
2
Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family. ( 28526010 )
2017
3
Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family. ( 28249924 )
2017
4
Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. ( 28272538 )
2017
5
Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract. ( 28120589 )
2016
6
Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract. ( 27609163 )
2016
7
A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract. ( 25877371 )
2015
8
A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing. ( 25947639 )
2015
9
Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract. ( 25301372 )
2014
10
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. ( 24555714 )
2014
11
A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family. ( 24405844 )
2014
12
A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract. ( 25517998 )
2014
13
A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family. ( 23592915 )
2013
14
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. ( 24379646 )
2013
15
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. ( 23288985 )
2012
16
A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. ( 22550389 )
2012
17
A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type. ( 22669729 )
2012
18
[CRYAA gene mutation study in a family with autosomal dominant congenital cataract combined with microcornea]. ( 21612679 )
2011
19
A novel mutation in I^D-crystallin associated with autosomal dominant congenital cataract in a Chinese family. ( 21527994 )
2011
20
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract. ( 21921990 )
2011
21
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family. ( 21031598 )
2011
22
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. ( 20361015 )
2010
23
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. ( 19390652 )
2009
24
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. ( 19306328 )
2009
25
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. ( 20019893 )
2009
26
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. ( 18432316 )
2008
27
[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract]. ( 18247306 )
2008
28
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. ( 18407550 )
2008
29
A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract. ( 17531125 )
2007
30
A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. ( 17893674 )
2007
31
The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. ( 17982427 )
2007
32
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. ( 16604058 )
2006
33
A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family. ( 16446699 )
2006
34
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. ( 17110920 )
2006
35
CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract. ( 16030500 )
2005
36
Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population. ( 16254549 )
2005
37
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. ( 15286166 )
2004
38
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. ( 12011157 )
2002
39
Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract. ( 10753642 )
2000
40
A new locus for autosomal dominant congenital cataracts maps to chromosome 3. ( 10634598 )
2000
41
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. ( 10739768 )
2000
42
Connexin46 mutations in autosomal dominant congenital cataract. ( 10205266 )
1999
43
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. ( 9467006 )
1998
44
Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation. ( 1427774 )
1992

Variations for Cataract 9, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 9, Multiple Types:

71
# Symbol AA change Variation ID SNP ID
1 CRYAA p.Arg116Cys VAR_003819 rs74315439
2 CRYAA p.Arg49Cys VAR_038375 rs74315441
3 CRYAA p.Arg21Leu VAR_046892
4 CRYAA p.Arg116His VAR_046893 rs121912973
5 CRYAA p.Arg12Cys VAR_070032 rs397515624

ClinVar genetic disease variations for Cataract 9, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYAA NM_000394.3(CRYAA): c.346C> T (p.Arg116Cys) single nucleotide variant Pathogenic rs74315439 GRCh37 Chromosome 21, 44592214: 44592214
2 CRYAA NM_000394.3(CRYAA): c.145C> T (p.Arg49Cys) single nucleotide variant Pathogenic rs74315441 GRCh37 Chromosome 21, 44589354: 44589354
3 CRYAA NM_000394.3(CRYAA): c.347G> A (p.Arg116His) single nucleotide variant Pathogenic rs121912973 GRCh37 Chromosome 21, 44592215: 44592215
4 CRYAA NM_000394.3(CRYAA): c.292G> A (p.Gly98Arg) single nucleotide variant Pathogenic rs398122947 GRCh37 Chromosome 21, 44590729: 44590729
5 CRYAA NM_000394.3(CRYAA): c.160C> T (p.Arg54Cys) single nucleotide variant Pathogenic rs397515623 GRCh37 Chromosome 21, 44589369: 44589369
6 CRYAA NM_000394.3(CRYAA): c.62G> A (p.Arg21Gln) single nucleotide variant Pathogenic rs397515626 GRCh37 Chromosome 21, 44589271: 44589271

Expression for Cataract 9, Multiple Types

Search GEO for disease gene expression data for Cataract 9, Multiple Types.

Pathways for Cataract 9, Multiple Types

GO Terms for Cataract 9, Multiple Types

Biological processes related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 8.96 CRYBB2 GJA8
2 visual perception GO:0007601 8.92 CRYAA CRYBB1 CRYBB2 GJA8

Molecular functions related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.8 CRYAA CRYBB1 CRYBB2

Sources for Cataract 9, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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