Details of Disease | DrugMAP

General Information of Disease (ID: DISJ4VI5)

Disease Name	Cataract 33
Synonyms	cataract 33, cortical; cataract 33, multiple types; cortical cataract 33; cataract type 33; BFSP1 early-onset non-syndromic cataract; early-onset non-syndromic cataract caused by mutation in BFSP1; CTRCT33; cataract 33
Definition	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.
Disease Hierarchy	DIS4VPS0: Early-onset non-syndromic cataract DISJ4VI5: Cataract 33
Disease Identifiers	MONDO ID MONDO_0012665 UMLS CUI C3808107 OMIM ID 611391 MedGen ID 814437

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
BFSP1	OTXZ3YIU	Strong	Autosomal dominant	[1]
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References

1	Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet. 2007 May;121(3-4):475-82. doi: 10.1007/s00439-006-0319-6. Epub 2007 Jan 16.