Details of Disease

General Information of Disease (ID: DISHAACF)

Disease Name Cataract 22 multiple types
Synonyms
cataract 22, multiple types; cataract, congenital nuclear, autosomal recessive 2; autosomal recessive congenital nuclear cataract 2; CATCN2; cataract 22; CRYBB3 early-onset non-syndromic cataract; early-onset non-syndromic cataract caused by mutation in CRYBB3; CTRCT22
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISHAACF: Cataract 22 multiple types
Disease Identifiers
MONDO ID
MONDO_0012336
MESH ID
C565725
UMLS CUI
C1857853
OMIM ID
609741
MedGen ID
341862

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
CRYBB3 OTTGTQIQ Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6. doi: 10.1167/iovs.04-1481.