Details of Disease

General Information of Disease (ID: DIS2TH8I)

Disease Name Mitral valve prolapse, myxomatous 2
Synonyms MVP2; mitral valve prolapse 2; myxomatous mitral valve prolapse 2; mitral valve prolapse, myxomatous 2; MMVP2
Disease Hierarchy
DIS1FAM4: Familial mitral valve prolapse
DIS2TH8I: Mitral valve prolapse, myxomatous 2
Disease Identifiers
MONDO ID
MONDO_0011915
UMLS CUI
C1843003
OMIM ID
607829
MedGen ID
335856

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
DCHS1 OTW3GX62 Strong Autosomal dominant [1]
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References

1 Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22.