MCID: CTR130
MIFTS: 39

Cataract 9, Multiple Types malady

Genetic diseases, Eye diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Cataract 9, Multiple Types

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Aliases & Descriptions for Cataract 9, Multiple Types:

Name: Cataract 9, Multiple Types 49 11 67
Cataract, Autosomal Recessive Congenital 1 22 24
Cataract, Autosomal Dominant 47 24
Cataract 9, Multiple Types, with or Without Microcornea 67
Autosomal Recessive Congenital Cataract 1 67
Autosomal Dominant Congenital Cataract 67
 
Cataracts, Autosomal Dominant 22
Cataract Autosomal Dominant 67
Congenital Cataracts 22
Congenital Cataract 47
Ctrct9 67
Catc1 67


Classifications:



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OMIM49 604219
ICD1027 Q12.0
MedGen34 C1858679
MeSH36 D002386

Summaries for Cataract 9, Multiple Types

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UniProtKB/Swiss-Prot:67 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 recessive congenital 1, is related to partial congenital cataract and cataract 2, multiple types, and has symptoms including microcornea, microphthalmos 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:49 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 12, Multiple Types
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 top 50)    (show all 210)
idRelated DiseaseScoreTop Affiliating Genes
1partial congenital cataract30.0CRYBB1, GJA8
2cataract 2, multiple types29.8CRYBB2, CRYGD
3cataract-glaucoma29.4CRYAA, CRYGD, GJA8
4hypomyelination and congenital cataract10.6
5congenital cataracts, facial dysmorphism, and neuropathy10.6
6myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay10.5
7optic atrophy 3 with cataract10.5
8congenital cataracts, hearing loss, and neurodegeneration10.4
9microphthalmia10.4
10deafness progressive cataract autosomal dominant10.4
11partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome10.4
12neuropathy10.3
13ataxia10.3
14cataract, autosomal dominant congenital 410.3
15foxe3-related cataracts, autosomal dominant10.3
16nance-horan syndrome10.3
17microcephaly10.3
18marinesco-sjogren syndrome10.3
19cataract microcornea syndrome10.3
20non-syndromic congenital cataract10.3
21cataract10.2
22cerebellar ataxia10.2
23leukodystrophy, hypomyelinating, 510.2
24corneal disease10.2
25lens disease10.2
26cataract, total congenital10.2
27adult i blood group with or without congenital cataract10.2
28congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay10.2
29congenital cataract-hearing loss-severe developmental delay syndrome10.2
30cataract 8, multiple types10.2
31peroxisome biogenesis disorder 14b10.2
32glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.2
33warburg micro syndrome 110.2
34sengers syndrome10.2
35aniridia10.2
36edict syndrome10.2
37ayme-gripp syndrome10.2
38cataract 3, multiple types10.2
39warburg micro syndrome10.2
40spiradenoma10.2
41eye disease10.2
42hypotrichosis10.2
43cerebellar hypoplasia10.2
44mousa al din al nassar syndrome10.2
45spasticity10.2
46congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy10.2
47congenital cataract microcornea with corneal opacity10.2
48porencephaly-microcephaly-bilateral congenital cataract syndrome10.2
49cataract 39, multiple types, autosomal dominant10.1
50cataract 4, multiple types10.1

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 11)
id Description Frequency HPO Source Accession
1 microcornea rare (5%) HP:0000482
2 microphthalmos rare (5%) HP:0000568
3 iris coloboma rare (5%) HP:0000612
4 progressive cataract rare (5%) HP:0007834
5 autosomal dominant inheritance HP:0000006
6 strabismus HP:0000486
7 glaucoma HP:0000501
8 visual impairment HP:0000505
9 cataract HP:0000518
10 nystagmus HP:0000639
11 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 122 24 CRYAA
2 Cataracts, Autosomal Dominant22 24 PITX3
3 Cataract, Autosomal Dominant24

Anatomical Context for Cataract 9, Multiple Types

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

33
Eye

Animal Models for Cataract 9, Multiple Types or affiliated genes

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MGI Mouse Phenotypes related to Cataract 9, Multiple Types:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2CRYAA, CRYBB2, CRYGD, GJA8

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:

67
id Symbol AA change Variation ID SNP ID
1CRYAAp.Arg116CysVAR_003819
2CRYAAp.Arg49CysVAR_038375
3CRYAAp.Arg21LeuVAR_046892
4CRYAAp.Arg116HisVAR_046893
5CRYAAp.Arg12CysVAR_070032

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
4CRYAANM_000394.3(CRYAA): c.292G> A (p.Gly98Arg)single nucleotide variantPathogenicrs398122947GRCh37Chr 21, 44590729: 44590729
5CRYAANM_000394.3(CRYAA): c.160C> T (p.Arg54Cys)single nucleotide variantPathogenicrs397515623GRCh37Chr 21, 44589369: 44589369
6CRYAANM_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
1response to stimulusGO:00508969.6CRYAA, CRYBB2
2lens development in camera-type eyeGO:00020889.4CRYGD, GJA8
3camera-type eye developmentGO:00430109.3CRYBB2, GJA8
4protein homooligomerizationGO:00512609.2CRYAA, GJA8
5visual perceptionGO:00076017.2CRYAA, CRYBB1, CRYBB2, CRYGD, GJA8

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:00052128.4CRYAA, CRYBB1, CRYBB2, CRYGD

Sources for Cataract 9, Multiple Types

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet