MCID: CTR130
MIFTS: 41

Cataract 9, Multiple Types

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

Aliases & Classifications for Cataract 9, Multiple Types

MalaCards integrated aliases for Cataract 9, Multiple Types:

Name: Cataract 9, Multiple Types 57 75 13
Cataract, Autosomal Dominant 57 29 55 6 73
Cataract, Autosomal Recessive Congenital 1 57 29 73
Ctrct9 57 12 75
Catc1 57 12 75
Cataract 9, Multiple Types, with or Without Microcornea 57 75
Autosomal Recessive Congenital Cataract 1 12 75
Cataract 9 Multiple Types 12 15
Cataract 9 Multiple Types with or Without Microcornea 12
Cataract, Autosomal Recessive Congenital 1; Catc1 57
Autosomal Dominant Congenital Cataract 75
Cataracts, Autosomal Dominant 29
Cataract Autosomal Dominant 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant


HPO:

32
cataract 9, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cataract 9, Multiple Types

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Cataract 9, Multiple Types is CRYAA (Crystallin Alpha A). Affiliated tissues include eye, and related phenotypes are nystagmus and visual impairment

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.

OMIM : 57 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)

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 28.3 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 cerulean cataract 9.8
6 cataract 25 9.7 CRYBB2 GJA8
7 mature cataract 9.7 CRYAA CRYBB2
8 cataract 44 9.5 CRYAA CRYBB2 GJA8
9 cataract 30, multiple types 9.4 CRYBB1 CRYBB2 GJA8
10 early-onset nuclear cataract 9.1 CRYAA CRYBB1 CRYBB2 GJA8
11 cataract microcornea syndrome 9.1 CRYAA CRYBB1 CRYBB2 GJA8
12 lens disease 9.1 CRYAA CRYBB1 CRYBB2 GJA8
13 cataract 18 8.8 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:

57
Head And Neck Eyes:
nystagmus
strabismus
glaucoma
amblyopia
microcornea (in some patients)
more

Clinical features from OMIM:

604219

Human phenotypes related to Cataract 9, Multiple Types:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual impairment 32 HP:0000505
3 strabismus 32 HP:0000486
4 microphthalmia 32 occasional (7.5%) HP:0000568
5 glaucoma 32 HP:0000501
6 amblyopia 32 HP:0000646
7 iris coloboma 32 occasional (7.5%) HP:0000612
8 microcornea 32 occasional (7.5%) HP:0000482
9 congenital cataract 32 HP:0000519
10 progressive cataract 32 occasional (7.5%) HP:0007834

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

26
# 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 Cataracts, Autosomal Dominant 29
2 Cataract, Autosomal Recessive Congenital 1 29
3 Cataract, Autosomal Dominant 29 CRYAA

Anatomical Context for Cataract 9, Multiple Types

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

41
Eye

Publications for Cataract 9, Multiple Types

Articles related to Cataract 9, Multiple Types:

(show all 47)
# 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
A novel truncation mutation in <i>CRYBB1</i> associated with autosomal dominant congenital cataract with nystagmus. ( 28928627 )
2017
4
Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. ( 28272538 )
2017
5
Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family. ( 28249924 )
2017
6
Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract. ( 28120589 )
2016
7
Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract. ( 27609163 )
2016
8
A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing. ( 25947639 )
2015
9
A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract. ( 25877371 )
2015
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
Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract. ( 25301372 )
2014
14
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. ( 24379646 )
2013
15
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
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
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. ( 23288985 )
2012
19
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family. ( 21031598 )
2011
20
[CRYAA gene mutation study in a family with autosomal dominant congenital cataract combined with microcornea]. ( 21612679 )
2011
21
A novel mutation in I^D-crystallin associated with autosomal dominant congenital cataract in a Chinese family. ( 21527994 )
2011
22
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract. ( 21921990 )
2011
23
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. ( 20361015 )
2010
24
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. ( 19390652 )
2009
25
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. ( 20019893 )
2009
26
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. ( 19306328 )
2009
27
[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract]. ( 18247306 )
2008
28
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. ( 18432316 )
2008
29
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. ( 18407550 )
2008
30
A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. ( 17893674 )
2007
31
A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract. ( 17531125 )
2007
32
The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. ( 17982427 )
2007
33
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. ( 17110920 )
2006
34
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. ( 16604058 )
2006
35
A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family. ( 16446699 )
2006
36
CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract. ( 16030500 )
2005
37
Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population. ( 16254549 )
2005
38
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. ( 15286166 )
2004
39
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. ( 12011157 )
2002
40
A new locus for autosomal dominant congenital cataracts maps to chromosome 3. ( 10634598 )
2000
41
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
42
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. ( 10739768 )
2000
43
Connexin46 mutations in autosomal dominant congenital cataract. ( 10205266 )
1999
44
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. ( 9467006 )
1998
45
Autosomal dominant congenital cataract. Interocular phenotypic variability. ( 8190472 )
1994
46
Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation. ( 1427774 )
1992
47
Autosomal dominant congenital cataract. Morphology and genetic mapping. ( 2728866 )
1989

Variations for Cataract 9, Multiple Types

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

75
# 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
(show all 22)
# 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.346C> T (p.Arg116Cys) single nucleotide variant Pathogenic rs74315439 GRCh38 Chromosome 21, 43172104: 43172104
3 CRYAA NM_000394.3(CRYAA): c.145C> T (p.Arg49Cys) single nucleotide variant Pathogenic rs74315441 GRCh37 Chromosome 21, 44589354: 44589354
4 CRYAA NM_000394.3(CRYAA): c.145C> T (p.Arg49Cys) single nucleotide variant Pathogenic rs74315441 GRCh38 Chromosome 21, 43169244: 43169244
5 CRYAA NM_000394.3(CRYAA): c.347G> A (p.Arg116His) single nucleotide variant Pathogenic rs121912973 GRCh37 Chromosome 21, 44592215: 44592215
6 CRYAA NM_000394.3(CRYAA): c.347G> A (p.Arg116His) single nucleotide variant Pathogenic rs121912973 GRCh38 Chromosome 21, 43172105: 43172105
7 CRYAA NM_000394.3(CRYAA): c.292G> A (p.Gly98Arg) single nucleotide variant Pathogenic rs398122947 GRCh37 Chromosome 21, 44590729: 44590729
8 CRYAA NM_000394.3(CRYAA): c.292G> A (p.Gly98Arg) single nucleotide variant Pathogenic rs398122947 GRCh38 Chromosome 21, 43170619: 43170619
9 CRYAA NM_000394.3(CRYAA): c.160C> T (p.Arg54Cys) single nucleotide variant Pathogenic rs397515623 GRCh37 Chromosome 21, 44589369: 44589369
10 CRYAA NM_000394.3(CRYAA): c.160C> T (p.Arg54Cys) single nucleotide variant Pathogenic rs397515623 GRCh38 Chromosome 21, 43169259: 43169259
11 CRYAA NM_000394.3(CRYAA): c.62G> A (p.Arg21Gln) single nucleotide variant Pathogenic rs397515626 GRCh37 Chromosome 21, 44589271: 44589271
12 CRYAA NM_000394.3(CRYAA): c.62G> A (p.Arg21Gln) single nucleotide variant Pathogenic rs397515626 GRCh38 Chromosome 21, 43169161: 43169161
13 CRYAA NM_000394.3(CRYAA): c.444T> A (p.Thr148=) single nucleotide variant Benign/Likely benign rs61735857 GRCh37 Chromosome 21, 44592312: 44592312
14 CRYAA NM_000394.3(CRYAA): c.444T> A (p.Thr148=) single nucleotide variant Benign/Likely benign rs61735857 GRCh38 Chromosome 21, 43172202: 43172202
15 CRYAA NM_000394.3(CRYAA): c.154C> T (p.Leu52Phe) single nucleotide variant Uncertain significance rs146914780 GRCh38 Chromosome 21, 43169253: 43169253
16 CRYAA NM_000394.3(CRYAA): c.154C> T (p.Leu52Phe) single nucleotide variant Uncertain significance rs146914780 GRCh37 Chromosome 21, 44589363: 44589363
17 CRYAA NM_000394.3(CRYAA): c.246G> A (p.Pro82=) single nucleotide variant Benign/Likely benign rs61735856 GRCh38 Chromosome 21, 43170573: 43170573
18 CRYAA NM_000394.3(CRYAA): c.246G> A (p.Pro82=) single nucleotide variant Benign/Likely benign rs61735856 GRCh37 Chromosome 21, 44590683: 44590683
19 CRYAA NM_000394.3(CRYAA): c.54C> T (p.Tyr18=) single nucleotide variant Benign rs61729442 GRCh38 Chromosome 21, 43169153: 43169153
20 CRYAA NM_000394.3(CRYAA): c.54C> T (p.Tyr18=) single nucleotide variant Benign rs61729442 GRCh37 Chromosome 21, 44589263: 44589263
21 CRYAA NM_000394.3(CRYAA): c.324C> T (p.Gly108=) single nucleotide variant Benign rs113802426 GRCh38 Chromosome 21, 43172082: 43172082
22 CRYAA NM_000394.3(CRYAA): c.324C> T (p.Gly108=) single nucleotide variant Benign rs113802426 GRCh37 Chromosome 21, 44592192: 44592192

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....