Details of Disease

General Information of Disease (ID: DISPYZV4)

Disease Name Cataract 15 multiple types
Synonyms cataract 15, multiple types; CTRCT15; MIP early-onset non-syndromic cataract; early-onset non-syndromic cataract caused by mutation in MIP
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISPYZV4: Cataract 15 multiple types
Disease Identifiers
MONDO ID
MONDO_0014110
UMLS CUI
C3809001
OMIM ID
615274
MedGen ID
815331

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
MIP OTEBLU3E Definitive Autosomal dominant [1]
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References

1 Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet. 2000 May;25(1):15-7. doi: 10.1038/75538.