MCID: CTR130
MIFTS: 37

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 51 69 12
Cataract, Autosomal Recessive Congenital 1 24 26 67
Autosomal Recessive Congenital Cataract 1 11 69
Cataract, Autosomal Dominant 49 67
Cataract Autosomal Dominant 69 26
Congenital Cataracts 24 26
Ctrct9 11 69
 
Catc1 11 69
Cataract 9, Multiple Types, with or Without Microcornea 69
Cataract 9 Multiple Types with or Without Microcornea 11
Autosomal Dominant Congenital Cataract 69
Cataracts, Autosomal Dominant 24
Cataract 9 Multiple Types 11
Congenital Cataract 49

Characteristics:

HPO:

63
cataract 9, multiple types:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 604219
Disease Ontology11 DOID:0110266
ICD1029 Q12.0
MedGen36 C1858679
MeSH38 D002386

Summaries for Cataract 9, Multiple Types

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UniProtKB/Swiss-Prot:69 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 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.

Disease Ontology:11 A cataract that has material basis in heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.

OMIM:51 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 46 Juvenile-Onset
Cataract 28 Cataract 37
Cataract 35 Cataract 45
Cataract 19 Multiple Types Cataract Congenital Autosomal Dominant
Cataract, Total Congenital Cataract 47
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 54)
idRelated DiseaseScoreTop Affiliating Genes
1cerulean cataract27.9CRYAA, CRYBB1, CRYBB2, CRYGC, CRYGD, GJA8
2congenital cataracts, facial dysmorphism, and neuropathy12.2
3congenital cataracts, hearing loss, and neurodegeneration12.1
4myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay12.1
5partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome12.0
6microcephaly, congenital cataract and psoriasiform dermatitis12.0
7cataract, autosomal dominant congenital 411.9
8foxe3-related cataracts, autosomal dominant11.9
9deafness progressive cataract autosomal dominant11.8
10leukodystrophy, hypomyelinating, 511.7
11leg, absence deformity of, with congenital cataract11.6
12spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia11.6
13adult i blood group with or without congenital cataract11.6
14congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome11.6
15edict syndrome11.5
16warburg micro syndrome 111.4
17hemorrhagic destruction of the brain, subependymal calcification, and cataracts11.3
18cataract 4, multiple types11.3
19nance-horan syndrome11.2
20cataract 21, multiple types11.2
21marinesco-sjogren syndrome11.2
22optic atrophy 3 with cataract11.1
23cataract 18, autosomal recessive11.1
24cataract 38, autosomal recessive11.1
25cataract 3, multiple types11.1
26lowe syndrome11.1
27cataract 13 with adult i phenotype11.0
28cataract 5, multiple types11.0
29cataract 34, multiple types11.0
30cataract 40, x-linked11.0
31cataract 3711.0
32hyperferritinemia-cataract syndrome10.9
33peroxisome biogenesis disorder 14b10.8
34sengers syndrome10.8
35cerebrooculofacioskeletal syndrome 110.8
36peroxisomal fatty acyl-coa reductase 1 disorder10.8
37cerebrooculofacioskeletal syndrome 310.8
38ayme-gripp syndrome10.8
39cataract 3610.8
40cataract congenital dominant non nuclear10.8
41mousa al din al nassar syndrome10.8
42chronic orbital inflammation10.2CRYAA, CRYGD
43wellesley carmen french syndrome9.9OCRL, PITX3
44beriberi9.8CRYAA, CRYBB2
45gilles de la tourette syndrome9.8CRYBB2, GJA8
46cataract9.7
47charcot-marie-tooth disease intermediate type9.7CRYGD, GJA3, PITX3
48myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related9.3CRYAA, CRYGC, CRYGD, GJA3, PITX3
49leukocyte adhesion deficiency9.1CRYAA, CRYBB1, CRYBB2, GJA8, PITX3
50popliteal pterygium syndrome 2, lethal type9.0CRYAA, CRYBB2, GJA8, NHS

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

Human phenotypes related to Cataract 9, Multiple Types:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 microcornea63 rare (5%) HP:0000482
2 microphthalmia63 rare (5%) HP:0000568
3 iris coloboma63 rare (5%) HP:0000612
4 progressive cataract63 rare (5%) HP:0007834
5 strabismus63 HP:0000486
6 glaucoma63 HP:0000501
7 visual impairment63 HP:0000505
8 cataract63 HP:0000518
9 nystagmus63 HP:0000639
10 amblyopia63 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 126 24 CRYAA
2 Cataracts, Autosomal Dominant26 24 PITX3
3 Cataract, Autosomal Dominant26
4 Cataract, Congenital26

Anatomical Context for Cataract 9, Multiple Types

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

35
Eye

Animal Models for Cataract 9, Multiple Types or affiliated genes

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MGI Mouse Phenotypes related to Cataract 9, Multiple Types:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053916.5CRYBB2, CRYGC, CRYGD, GJA3, GJA8, NHS

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:

69
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
1CRYGDNM_006891.3(CRYGD): c.70C> A (p.Pro24Thr)SNVPathogenicrs28931605GRCh37Chr 2, 208989018: 208989018
2CRYAANM_000394.3(CRYAA): c.346C> T (p.Arg116Cys)SNVPathogenicrs74315439GRCh37Chr 21, 44592214: 44592214
3CRYAANM_000394.3(CRYAA): c.145C> T (p.Arg49Cys)SNVPathogenicrs74315441GRCh37Chr 21, 44589354: 44589354
4CRYAANM_000394.3(CRYAA): c.347G> A (p.Arg116His)SNVPathogenicrs121912973GRCh37Chr 21, 44592215: 44592215
5CRYAANM_000394.3(CRYAA): c.292G> A (p.Gly98Arg)SNVPathogenicrs398122947GRCh37Chr 21, 44590729: 44590729
6CRYAANM_000394.3(CRYAA): c.160C> T (p.Arg54Cys)SNVPathogenicrs397515623GRCh37Chr 21, 44589369: 44589369
7CRYAANM_000394.3(CRYAA): c.62G> A (p.Arg21Gln)SNVPathogenicrs397515626GRCh37Chr 21, 44589271: 44589271
8CRYGCNM_020989.3(CRYGC): c.497C> T (p.Ser166Phe)SNVPathogenicrs587778872GRCh37Chr 2, 208992955: 208992955

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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Cellular components related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:00059229.4GJA3, GJA8

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

idNameGO IDScoreTop Affiliating Genes
1lens fiber cell differentiationGO:007030610.2CRYGD, PITX3
2camera-type eye developmentGO:00430109.7CRYBB2, GJA8
3response to stimulusGO:00508969.7CRYAA, CRYBB2
4lens development in camera-type eyeGO:00020888.6CRYGD, GJA8, NHS, PITX3
5visual perceptionGO:00076017.6CRYAA, CRYBB1, CRYBB2, CRYGC, CRYGD, GJA3

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.8GJA3, GJA8
2structural constituent of eye lensGO:00052128.6CRYAA, CRYBB1, CRYBB2, CRYGC, CRYGD

Sources for Cataract 9, Multiple Types

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet