Details of Disease

General Information of Disease (ID: DISXCZSQ)

Disease Name Cataract 23
Synonyms
cataract 23, lamellar; cataract 23, multiple types, with or without microcornea; cataract 23, multiple types; lamellar cataract 23; cataract 23; cataract type 23; CTRCT23; early-onset non-syndromic cataract caused by mutation in CRYBA4; CRYBA4 early-onset non-syndromic cataract
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISXCZSQ: Cataract 23
Disease Identifiers
MONDO ID
MONDO_0012489
UMLS CUI
C3808012
OMIM ID
610425
MedGen ID
814342

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRYBA4 OTQJ5XGE Strong Autosomal dominant [1]
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References

1 CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet. 2006 Oct;79(4):702-9. doi: 10.1086/507712. Epub 2006 Aug 17.