Details of Disease

General Information of Disease (ID: DISJOCKU)

Disease Name Cataract 10 multiple types
Synonyms
cataract 10, multiple types; cataract, congenital zonular, with sutural opacities; CCZS; congenital zonular cataract with sutural opacities; CRYBA1 early-onset non-syndromic cataract; CTRCT10; early-onset non-syndromic cataract caused by mutation in CRYBA1
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISJOCKU: Cataract 10 multiple types
Disease Identifiers
MONDO ID
MONDO_0010948
MESH ID
C563435
UMLS CUI
C1833229
OMIM ID
600881
MedGen ID
318817

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
CRYBA1 OT8617WJ Definitive Autosomal dominant [1]
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References

1 A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Hum Genet. 2004 Jan;114(2):192-7. doi: 10.1007/s00439-003-1049-7. Epub 2003 Nov 4.