Details of Disease

General Information of Disease (ID: DISIGLA9)

Disease Name Cataract 21 multiple types
Synonyms
cataract 21, multiple types; cataract, pulverulent, juvenile-onset; cataract, congenital, cerulean type, 4; cataract 21, multiple types, with or without microcornea; CCA4; congenital cataract cerulean type 4; cataract 21 multiple types with or without microcornea; CTRCT21; MAF early-onset non-syndromic cataract; early-onset non-syndromic cataract caused by mutation in MAF
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISIGLA9: Cataract 21 multiple types
Disease Identifiers
MONDO ID
MONDO_0012437
MESH ID
C565703
UMLS CUI
C1857768
OMIM ID
610202
MedGen ID
347538

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
MAF OT1GR3IZ Definitive Autosomal dominant [1]
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References

1 Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet. 2002 Jan 1;11(1):33-42. doi: 10.1093/hmg/11.1.33.