Details of Disease

General Information of Disease (ID: DIS6W7YF)

Disease Name Cataract 16 multiple types
Synonyms
cataract, posterior polar, 2; cataract 16, multiple types; cataract, congenital lamellar; CTPP2; posterior polar cataract 2; early-onset non-syndromic cataract caused by mutation in CRYAB; CTRCT16; CRYAB early-onset non-syndromic cataract
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DIS6XW87: Early-onset zonular cataract
DIS6W7YF: Cataract 16 multiple types
Disease Identifiers
MONDO ID
MONDO_0013411
UMLS CUI
C3808377
OMIM ID
613763
MedGen ID
814707

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CRYAB TT7RUHB Limited Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRYAB OTY4JGYU Strong Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 p62 expression and autophagy in B-crystallin R120G mutant knock-in mouse model of hereditary cataract.Exp Eye Res. 2013 Oct;115:263-73. doi: 10.1016/j.exer.2013.06.026. Epub 2013 Jul 18.
2 A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis. 2009 Jul 10;15:1359-65.