Details of Disease

General Information of Disease (ID: DISZO5TN)

Disease Name Cataract 31 multiple types
Synonyms
cataract, posterior polar, 3; cataract 31, multiple types; posterior polar cataract 3; CPP3; CTPP3; CTRCT31; CHMP4B early-onset non-syndromic cataract; early-onset non-syndromic cataract caused by mutation in CHMP4B
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISZO5TN: Cataract 31 multiple types
Disease Identifiers
MONDO ID
MONDO_0011547
MESH ID
C535343
UMLS CUI
C1854311
OMIM ID
605387
MedGen ID
343089

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
CHMP4B TT09EZF Strong Autosomal dominant [1]
CHMP4B TT09EZF Strong Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BFSP1 OTXZ3YIU Limited Biomarker [3]
CHMP4B OT854ZK7 Strong Autosomal dominant [1]
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References

1 Mutation profiles of congenital cataract genes in 21 northern Chinese families. Mol Vis. 2018 Jul 20;24:471-477. eCollection 2018.
2 CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet. 2007 Sep;81(3):596-606. doi: 10.1086/519980. Epub 2007 Jul 27.
3 An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.Eur J Hum Genet. 2000 Jul;8(7):535-9. doi: 10.1038/sj.ejhg.5200485.