MCID: CTR130
MIFTS: 36

Cataract 9, Multiple Types malady

Categories: Genetic diseases, Eye diseases, Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Cataract 9, Multiple Types

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Aliases & Descriptions for Cataract 9, Multiple Types:

Name: Cataract 9, Multiple Types 50 68 12
Autosomal Recessive Congenital Cataract 1 68 25
Cataract Autosomal Dominant 68 25
Congenital Cataracts 23 25
Cataract 9, Multiple Types, with or Without Microcornea 68
Cataract, Autosomal Recessive Congenital 1 23
 
Autosomal Dominant Congenital Cataract 68
Cataracts, Autosomal Dominant 23
Cataract, Autosomal Dominant 48
Congenital Cataract 48
Ctrct9 68
Catc1 68

Characteristics:

HPO:

62
cataract 9, multiple types:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 604219
MedGen35 C1858679
MeSH37 D002386
ICD1028 Q12.0

Summaries for Cataract 9, Multiple Types

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UniProtKB/Swiss-Prot:68 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 autosomal recessive congenital cataract 1, is related to cerulean cataract and congenital cataracts, facial dysmorphism, and neuropathy, and has symptoms including microcornea, microphthalmia and iris coloboma. An important gene associated with Cataract 9, Multiple Types is CRYAA (Crystallin Alpha A). Affiliated tissues include eye, and related mouse phenotype vision/eye.

OMIM:50 Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear,... (604219) more...

Related Diseases for Cataract 9, Multiple Types

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Diseases in the Cataract family:

Cataract 8, Multiple Types Cataract 6, Multiple Types
Cataract 34, Multiple Types Cataract 1, Multiple Types
Cataract 39, Multiple Types, Autosomal Dominant Cataract 2, Multiple Types
Cataract 4, Multiple Types Cataract 42
Cataract 18, Autosomal Recessive Cataract 20, Multiple Types
Cataract 41 Cataract 38, Autosomal Recessive
Cataract 26, Multiple Types Cataract 36
Cataract 11, Multiple Types Cataract 16, Multiple Types
Cataract 15, Multiple Types Cataract 14, Multiple Types
Cataract 32, Multiple Types Cataract 25
Cataract 5, Multiple Types Cataract 21, Multiple Types
Cataract 43 Cataract 10, Multiple Types
Cataract 7 Cataract 19
Cataract 33 Cataract 31, Multiple Types
cataract 9, multiple types Cataract 44
Cataract 17, Multiple Types Cataract 3, Multiple Types
Cataract 22, Autosomal Recessive Cataract 23
Cataract Congenital Autosomal Dominant Cataract, Total Congenital
Cataract, Autosomal Dominant Congenital 4 Cataracts, Autosomal Recessive
Foxe3-Related Cataracts, Autosomal Dominant

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1cerulean cataract27.8CRYAA, CRYBB1, CRYBB2, GJA8
2congenital cataracts, facial dysmorphism, and neuropathy12.2
3hypomyelination and congenital cataract12.2
4congenital cataracts, hearing loss, and neurodegeneration12.1
5myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay12.1
6partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome12.0
7cataract, autosomal dominant congenital 412.0
8foxe3-related cataracts, autosomal dominant12.0
9microcephaly, congenital cataract, and psoriasiform dermatitis11.9
10deafness progressive cataract autosomal dominant11.9
11leg, absence deformity of, with congenital cataract11.8
12spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia11.8
13adult i blood group with or without congenital cataract11.8
14congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome11.8
15edict syndrome11.3
16leukodystrophy, hypomyelinating, 511.2
17optic atrophy 3 with cataract11.2
18hemorrhagic destruction of the brain, subependymal calcification, and cataracts11.1
19warburg micro syndrome11.1
20hyperferritinemia-cataract syndrome11.0
21cataract 4, multiple types10.9
22cataract 18, autosomal recessive10.9
23cataract 38, autosomal recessive10.9
24cataract 3610.9
25cataract 21, multiple types10.9
26cataract 3, multiple types10.9
27cataract congenital dominant non nuclear10.9
28mousa al din al nassar syndrome10.9
29cataract10.2
30methylmalonic acidemia with homocystinuria, type cblj9.9CRYAB, PITX3
31beriberi9.7CRYAA, CRYBB2
32gilles de la tourette syndrome9.7CRYBB2, GJA8
33myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related9.6CRYAA, CRYAB, PITX3
34charcot-marie-tooth disease intermediate type9.6CRYAB, PITX3
35popliteal pterygium syndrome 2, lethal type9.4CRYAA, CRYBB2, GJA8
36combined sap deficiency9.1CRYBB1, CRYBB2, GJA8
37anorectal stricture8.9CRYAA, CRYAB, CRYBB1, PITX3
38cerebral palsy8.4CRYAA, CRYAB, CRYBB1, GJA8, PITX3
39multifocal pattern dystrophy simulating fundus flavimaculatus8.2CRYAA, CRYAB, CRYBB1, CRYBB2, GJA8
40leukocyte adhesion deficiency7.8CRYAA, CRYAB, CRYBB1, CRYBB2, GJA8, PITX3

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



Diseases related to cataract 9, multiple types

Symptoms for Cataract 9, Multiple Types

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Symptoms by clinical synopsis from OMIM:

604219

Clinical features from OMIM:

604219

HPO human phenotypes related to Cataract 9, Multiple Types:

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

Drugs & Therapeutics for Cataract 9, Multiple Types

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Interventional clinical trials:

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

Genetic Tests for Cataract 9, Multiple Types

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Genetic tests related to Cataract 9, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract, Autosomal Recessive Congenital 125 23 CRYAA
2 Cataracts, Autosomal Dominant25 23 PITX3
3 Cataract, Autosomal Dominant25
4 Cataract, Congenital25

Anatomical Context for Cataract 9, Multiple Types

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

34
Eye

Animal Models for Cataract 9, Multiple Types or affiliated genes

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MGI Mouse Phenotypes related to Cataract 9, Multiple Types:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4CRYAB, CRYBB2, GJA8, PITX3

Publications for Cataract 9, Multiple Types

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Variations for Cataract 9, Multiple Types

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

68
id Symbol AA change Variation ID SNP ID
1CRYAAp.Arg116CysVAR_003819rs74315439
2CRYAAp.Arg49CysVAR_038375rs74315441
3CRYAAp.Arg21LeuVAR_046892
4CRYAAp.Arg116HisVAR_046893rs121912973
5CRYAAp.Arg12CysVAR_070032rs397515624

Clinvar genetic disease variations for Cataract 9, Multiple Types:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CRYAANM_000394.3(CRYAA): c.346C> T (p.Arg116Cys)single nucleotide variantPathogenicrs74315439GRCh37Chr 21, 44592214: 44592214
2CRYAANM_000394.3(CRYAA): c.145C> T (p.Arg49Cys)single nucleotide variantPathogenicrs74315441GRCh37Chr 21, 44589354: 44589354
3CRYAANM_000394.3(CRYAA): c.347G> A (p.Arg116His)single nucleotide variantPathogenicrs121912973GRCh37Chr 21, 44592215: 44592215
4CRYABNM_001885.2(CRYAB): c.460G> A (p.Gly154Ser)single nucleotide variantPathogenicrs150516929GRCh37Chr 11, 111779556: 111779556
5CRYAANM_000394.3(CRYAA): c.292G> A (p.Gly98Arg)single nucleotide variantPathogenicrs398122947GRCh37Chr 21, 44590729: 44590729
6CRYAANM_000394.3(CRYAA): c.160C> T (p.Arg54Cys)single nucleotide variantPathogenicrs397515623GRCh37Chr 21, 44589369: 44589369
7CRYAANM_000394.3(CRYAA): c.62G> A (p.Arg21Gln)single nucleotide variantPathogenicrs397515626GRCh37Chr 21, 44589271: 44589271

Expression for genes affiliated with Cataract 9, Multiple Types

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

Pathways for genes affiliated with Cataract 9, Multiple Types

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GO Terms for genes affiliated with Cataract 9, Multiple Types

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of intracellular transportGO:00323879.9CRYAA, CRYAB
2response to stimulusGO:00508969.7CRYAA, CRYBB2
3camera-type eye developmentGO:00430109.1CRYAB, CRYBB2, GJA8
4lens development in camera-type eyeGO:00020889.0CRYAB, GJA8, PITX3
5protein homooligomerizationGO:00512608.7CRYAA, CRYAB, GJA8
6visual perceptionGO:00076018.1CRYAA, CRYBB1, CRYBB2, GJA8

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

idNameGO IDScoreTop Affiliating Genes
1unfolded protein bindingGO:00510829.6CRYAA, CRYAB
2identical protein bindingGO:00428028.9CRYAA, CRYAB, CRYBB2
3structural constituent of eye lensGO:00052128.5CRYAA, CRYAB, CRYBB1, CRYBB2

Sources for Cataract 9, Multiple Types

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet