MCID: CTR115
MIFTS: 14

Cataract 16, Multiple Types malady

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

Summaries for Cataract 16, Multiple Types

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OMIM:45 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 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


External Ids:

OMIM45 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:

6
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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet