Details of Disease

General Information of Disease (ID: DISDNYYA)

Disease Name Cataract 42
Synonyms
early-onset non-syndromic cataract caused by mutation in CRYBA2; cataract 42; CTRCT42; cataract type 42; CRYBA2 early-onset non-syndromic cataract; A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.|Not in the OMIM series.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISDNYYA: Cataract 42
Disease Identifiers
MONDO ID
MONDO_0007283
UMLS CUI
C4011454
OMIM ID
115900
MedGen ID
859891

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
CRYBA2 OT46U1WM Strong Autosomal dominant [1]
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References

1 Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. Sci Rep. 2017 Apr 27;7(1):1219. doi: 10.1038/s41598-017-01182-9.