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Mitral valve prolapse, myxomatous 3(MMVP3; MVP3)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Mitral valve prolapse 3; MMVP3
Gene (location): DZIP1 (13q32.1)
Monarch Initiative: MONDO:0012569
OMIM®: 610840


Patients with mitral valve prolapse-3 (MVP3) have nonsyndromic MVP of variable severity with an autosomal dominant pattern of inheritance. For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (157700). [from OMIM]

Clinical features

From HPO
Mitral regurgitation
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Mitral valve prolapse
MedGen UID:
Concept ID:
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.

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