Details of Disease

General Information of Disease (ID: DIS6WOLW)

Disease Name Cataract 3 multiple types
Synonyms
cataract 3, multiple types; cataract, congenital, cerulean type, 2; cataract 3, multiple types, with or without microcornea; CCA2; congenital cerulean type cataract 2; CRYBB2 cataract (disease); CTRCT3; cataract (disease) caused by mutation in CRYBB2; cataract 3 multiple types with or without microcornea
Definition Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.
Disease Hierarchy
DISUD7SL: Cataract
DIS6WOLW: Cataract 3 multiple types
Disease Identifiers
MONDO ID
MONDO_0011104
MESH ID
C563294
UMLS CUI
C1832175
OMIM ID
601547
MedGen ID
321901

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GFM1 OTUN4V3N Strong Altered Expression [1]
CRYBB2 OTL0Z8E6 Definitive Autosomal dominant [2]
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References

1 Antifungal effect of photodynamic therapy mediated by curcumin on Candida albicans biofilms in vitro.Photodiagnosis Photodyn Ther. 2019 Sep;27:280-287. doi: 10.1016/j.pdpdt.2019.06.015. Epub 2019 Jun 21.
2 A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. Genomics. 1996 Aug 1;35(3):539-42. doi: 10.1006/geno.1996.0395.