Details of Disease

General Information of Disease (ID: DISZBGUD)

Disease Name Cataract 4 multiple types
Synonyms
cataract, crystalline aculeiform; cataract 4, multiple types; cataract 4, multiple types, with or without microcornea; cataract, punctate, progressive juvenile-onset; cataract, congenital, cerulean type, 3; cataract, Nonnuclear polymorphic congenital; CCA3; congenital cataract cerulean type 3; cataract (disease) caused by mutation in CRYGD; CRYGD cataract (disease); CTRCT4; cataract 4 multiple types with or without microcornea
Definition Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.
Disease Hierarchy
DISUD7SL: Cataract
DISZBGUD: Cataract 4 multiple types
Disease Identifiers
MONDO ID
MONDO_0007281
UMLS CUI
C3540850
OMIM ID
115700
MedGen ID
761925

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
CRYGD OTW29JC4 Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.