Details of Disease

General Information of Disease (ID: DIS1FAM4)

Disease Name Familial mitral valve prolapse
Synonyms mitral valve prolapse, familial; mitral valve prolapse, familial, autosomal dominant; MVP; hereditary mitral valve prolapse (disease)
Definition An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DISJ0HWW: Congenital mitral valve insufficiency and/or stenosis
DISALCPC: Inherited mitral valve disease
DISNCHQ3: Mitral valve prolapse
DIS1FAM4: Familial mitral valve prolapse
Disease Identifiers
MONDO ID
MONDO_0008004
UMLS CUI
C0340364
MedGen ID
573696
Orphanet ID
741
SNOMED CT ID
233858000

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 Supportive Autosomal dominant [1]
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References

1 Mutations in DCHS1 cause mitral valve prolapse. Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10.