MCID: CTR115
MIFTS: 17

Cataract 16, Multiple Types malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Cancer diseases categories

Summaries for Cataract 16, Multiple Types

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OMIM:47 Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as... (613763) more...

MalaCards based summary: Cataract 16, Multiple Types and has symptoms including congenital cataract, retinal dystrophy and autosomal dominant inheritance. An important gene associated with Cataract 16, Multiple Types is CRYAB (crystallin, alpha B).

Aliases & Classifications for Cataract 16, Multiple Types

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Cataract 16, Multiple Types, Aliases & Descriptions:

Name: Cataract 16, Multiple Types 47


Classifications:



External Ids:

OMIM47 613763

Symptoms for Cataract 16, Multiple Types

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Symptoms by clinical synopsis from OMIM:

613763

Clinical features from OMIM:

613763

HPO human phenotypes related to Cataract 16, Multiple Types:

id Description Frequency HPO Source Accession
1 congenital cataract rare (5%) HP:0000519
2 retinal dystrophy rare (5%) HP:0000556
3 autosomal dominant inheritance HP:0000006
4 autosomal recessive inheritance HP:0000007
5 posterior polar cataract HP:0001115

Drugs & Therapeutics for Cataract 16, Multiple Types

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Drug clinical trials:

Search ClinicalTrials for Cataract 16, Multiple Types

Search NIH Clinical Center for Cataract 16, Multiple Types

Genetic Tests for Cataract 16, Multiple Types

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Anatomical Context for Cataract 16, Multiple Types

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Animal Models for Cataract 16, Multiple Types or affiliated genes

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Publications for Cataract 16, Multiple Types

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Variations for Cataract 16, Multiple Types

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Clinvar genetic disease variations for Cataract 16, Multiple Types:

7
id Gene Variation Type Significance SNP ID Assembly Location
1CRYABCRYAB, 1-BP DEL, 450AdeletionPathogenic
2CRYABNM_001885.2(CRYAB): c.418G> A (p.Asp140Asn)single nucleotide variantPathogenicrs387907336GRCh37Chr 11, 111779598: 111779598
3CRYABNM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)single nucleotide variantPathogenicrs387907337GRCh37Chr 11, 111782391: 111782391
4CRYABNM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)single nucleotide variantPathogenicrs387907338GRCh37Chr 11, 111782283: 111782283

Expression for genes affiliated with Cataract 16, Multiple Types

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Search GEO for disease gene expression data for Cataract 16, Multiple Types.

Pathways for genes affiliated with Cataract 16, Multiple Types

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Compounds for genes affiliated with Cataract 16, Multiple Types

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GO Terms for genes affiliated with Cataract 16, Multiple Types

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Products for genes affiliated with Cataract 16, Multiple Types

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cataract 16, Multiple Types

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet