Rare diseases · Sign or symptom
Mitral regurgitation
HP:0001653
What it means
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.
Rare diseases that can present with this63
Very common80–99%
4Common30–79%
13- Aneurysm-osteoarthritis syndrome
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Atrial septal defect, ostium primum type
- Autosomal dominant cutis laxa
- Fabry disease
- Marfan syndrome
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Mucolipidosis type II
- Mucolipidosis type III alpha/beta
- Partial atrioventricular septal defect
- Shprintzen-Goldberg syndrome
- Sneddon syndrome
- Williams syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Mitral incompetence · Mitral insufficiency · Mitral regurgitation, mild · Mitral valve insufficiency · Mitral valve regurgitation
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.