CTRCT9
MCID: CTR130
MIFTS: 41

Cataract 9, Multiple Types (CTRCT9)

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

Aliases & Classifications for Cataract 9, Multiple Types

MalaCards integrated aliases for Cataract 9, Multiple Types:

Name: Cataract 9, Multiple Types 58 76 13
Cataract, Autosomal Dominant 58 30 56 6 74
Cataract, Autosomal Recessive Congenital 1 58 30 74
Ctrct9 58 12 76
Catc1 58 12 76
Cataract 9, Multiple Types, with or Without Microcornea 58 76
Autosomal Recessive Congenital Cataract 1 12 76
Cataract 9 Multiple Types 12 15
Cataract 9 Multiple Types with or Without Microcornea 12
Cataract, Autosomal Recessive Congenital 1; Catc1 58
Autosomal Dominant Congenital Cataract 76
Cataracts, Autosomal Dominant 30
Cataract Autosomal Dominant 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant


HPO:

33
cataract 9, multiple types:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Cataract 9, Multiple Types

UniProtKB/Swiss-Prot : 76 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 microphthalmia and iris coloboma

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 : 58 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 18)
# Related Disease Score Top Affiliating Genes
1 cataract 29.4 CRYAA CRYBB1 CRYBB2 GJA8
2 deafness progressive cataract autosomal dominant 12.1
3 optic atrophy 3, autosomal dominant 11.6
4 cataract 37 11.2
5 edict syndrome 11.1
6 cataract 4, multiple types 10.0
7 microphthalmia 10.0
8 anterior segment dysgenesis 10.0
9 bowenoid papulosis 10.0
10 mature cataract 9.9 CRYAA CRYBB2
11 cataract 25 9.9 CRYBB2 GJA8
12 cataract 44 9.7 CRYAA CRYBB2 GJA8
13 lens disease 9.7 CRYAA CRYBB2 GJA8
14 cataract 30, multiple types 9.6 CRYBB1 CRYBB2 GJA8
15 cataract 18 9.6 CDKN3 TYRP1
16 melanoma, cutaneous malignant 1 9.5 CDKN3 TYRP1
17 early-onset nuclear cataract 9.4 CRYAA CRYBB1 CRYBB2 GJA8
18 cataract microcornea syndrome 9.4 CRYAA CRYBB1 CRYBB2 GJA8

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

Human phenotypes related to Cataract 9, Multiple Types:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 33 occasional (7.5%) HP:0000568
2 iris coloboma 33 occasional (7.5%) HP:0000612
3 microcornea 33 occasional (7.5%) HP:0000482
4 progressive cataract 33 occasional (7.5%) HP:0007834
5 nystagmus 33 HP:0000639
6 strabismus 33 HP:0000486
7 glaucoma 33 HP:0000501
8 amblyopia 33 HP:0000646
9 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
glaucoma
amblyopia
microcornea (in some patients)
more

Clinical features from OMIM:

604219

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

27
# 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 30
2 Cataracts, Autosomal Dominant 30
3 Cataract, Autosomal Dominant 30 CRYAA

Anatomical Context for Cataract 9, Multiple Types

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

42
Eye

Publications for Cataract 9, Multiple Types

Articles related to Cataract 9, Multiple Types:

(show all 44)
# Title Authors Year
1
PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population. ( 30816539 )
2019
2
A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract. ( 29434075 )
2018
3
Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract. ( 29364738 )
2018
4
Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family. ( 28526010 )
2017
5
A novel truncation mutation in <i>CRYBB1</i> associated with autosomal dominant congenital cataract with nystagmus. ( 28928627 )
2017
6
Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. ( 28272538 )
2017
7
Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract. ( 28120589 )
2016
8
Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract. ( 27609163 )
2016
9
A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing. ( 25947639 )
2015
10
A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract. ( 25877371 )
2015
11
Correction: A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract. ( 25970271 )
2015
12
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
13
A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract. ( 25517998 )
2014
14
Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract. ( 25301372 )
2014
15
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. ( 24379646 )
2013
16
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
17
A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. ( 22550389 )
2012
18
A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type. ( 22669729 )
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
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. ( 19390652 )
2009
24
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. ( 20019893 )
2009
25
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. ( 19306328 )
2009
26
[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract]. ( 18247306 )
2008
27
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. ( 18432316 )
2008
28
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. ( 18407550 )
2008
29
A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. ( 17893674 )
2007
30
A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract. ( 17531125 )
2007
31
The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. ( 17982427 )
2007
32
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. ( 17110920 )
2006
33
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. ( 16604058 )
2006
34
A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family. ( 16446699 )
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
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
39
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. ( 10739768 )
2000
40
Connexin46 mutations in autosomal dominant congenital cataract. ( 10205266 )
1999
41
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. ( 9467006 )
1998
42
Autosomal dominant congenital cataract. Interocular phenotypic variability. ( 8190472 )
1994
43
Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation. ( 1427774 )
1992
44
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:

76
# 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 protein homooligomerization GO:0051260 9.16 CRYAA GJA8
2 camera-type eye development GO:0043010 8.96 CRYBB2 GJA8
3 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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