Details of Disease | DrugMAP

General Information of Disease (ID: DIS85JDX)

Disease Name	Cataract 17 multiple types
Synonyms	cataract, congenital nuclear, autosomal recessive 3; cataract 17, multiple types; cataract 17, multiple types, with or without microcornea; autosomal recessive congenital nuclear cataract 3; CATCN3; early-onset non-syndromic cataract caused by mutation in CRYBB1; CRYBB1 early-onset non-syndromic cataract; CTRCT17
Definition	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.
Disease Hierarchy	DIS4VPS0: Early-onset non-syndromic cataract DIS85JDX: Cataract 17 multiple types
Disease Identifiers	MONDO ID MONDO_0012688 UMLS CUI C3888124 OMIM ID 611544 MedGen ID 854781

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRYBB1	TTDS503	Strong	Biomarker	[1]
CRYBB1	TTDS503	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRYBB1	OTDI4W3V	Definitive	Autosomal dominant	[2]
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References

1	Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.Mol Vis. 2017 Dec 24;23:977-986. eCollection 2017.
2	A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet. 2002 Nov;71(5):1216-21. doi: 10.1086/344212. Epub 2002 Oct 1.