MCID: CTR130
MIFTS: 36

Cataract 9, Multiple Types malady

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

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 65
Autosomal Recessive Congenital Cataract 1 67 24
Cataract, Autosomal Dominant 47 65
Cataract Autosomal Dominant 67 24
Congenital Cataract 47 24
 
Cataract 9, Multiple Types, with or Without Microcornea 67
Autosomal Dominant Congenital Cataract 67
Cataracts, Autosomal Dominant 22
Congenital Cataracts 22
Ctrct9 67
Catc1 67

Characteristics:

HPO:

61
cataract 9, multiple types:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 604219
MedGen34 C1858679
MeSH36 D002386
ICD1027 Q12.0
UMLS65 C3888098, C1858679

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 early-onset partial cataract and early-onset zonular cataract, and has symptoms including progressive cataract, iris coloboma and microphthalmia. An important gene associated with Cataract 9, Multiple Types is CRYAA (Crystallin Alpha A), and among its related pathways is Protein processing in endoplasmic reticulum. Affiliated tissues include 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 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 Total Early-Onset Cataract

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

(show top 50)    (show all 239)
idRelated DiseaseScoreTop Affiliating Genes
1early-onset partial cataract30.0CRYBB2, GJA8
2early-onset zonular cataract29.4CRYBB1, CRYBB2, GJA8
3early-onset posterior polar cataract28.6CRYAA, CRYAB, CRYBB1, CRYBB2, GJA8
4congenital cataracts, facial dysmorphism, and neuropathy12.5
5hypomyelination and congenital cataract12.5
6myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay12.5
7congenital cataracts, hearing loss, and neurodegeneration12.4
8partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome12.4
9cataract, autosomal dominant congenital 412.4
10foxe3-related cataracts, autosomal dominant12.4
11deafness progressive cataract autosomal dominant12.3
12congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome12.2
13congenital cataract-hearing loss-severe developmental delay syndrome12.2
14adult i blood group with or without congenital cataract12.1
15congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome12.1
16congenital cataract microcornea with corneal opacity12.1
17porencephaly-microcephaly-bilateral congenital cataract syndrome12.1
18optic atrophy 3 with cataract11.6
19leukodystrophy, hypomyelinating, 511.6
20edict syndrome11.5
21warburg micro syndrome11.5
22hyperferritinemia-cataract syndrome11.4
23cataract 4, multiple types11.4
24cataract 18, autosomal recessive11.3
25cataract 38, autosomal recessive11.3
26cataract 3611.3
27cataract 21, multiple types11.3
28cataract 3, multiple types11.3
29cataract congenital dominant non nuclear11.3
30cataract, total congenital11.3
31mousa al din al nassar syndrome11.3
32pheochromocytoma11.1
33cataract 40, x-linked11.1
34bassoe syndrome11.1
35cataract and congenital ichthyosis11.1
36crome syndrome11.1
37hec syndrome11.1
38karandikar maria kamble syndrome11.1
39microcephaly microcornea syndrome seemanova type11.1
40microphthalmia cataract11.1
41microphthalmia with cataract 111.1
42melioidosis10.7
43dengue disease10.7
44dengue hemorrhagic fever10.7
45marinesco-sjogren syndrome10.4
46peroxisome biogenesis disorder 14b10.3
47warburg micro syndrome 110.3
48sengers syndrome10.3
49cerebrooculofacioskeletal syndrome 110.3
50peroxisomal fatty acyl-coa reductase 1 disorder10.3

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

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 CRYAA
2 Cataracts, Autosomal Dominant22 PITX3

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

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5CRYAA, CRYAB

GO Terms for genes affiliated with Cataract 9, Multiple Types

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428029.3CRYAB, CRYBB2
2structural constituent of eye lensGO:00052128.5CRYAA, CRYBB1, CRYBB2

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