Rare diseases · Sign or symptom
Abnormal mitral valve morphology
HP:0001633
What it means
Any structural anomaly of the mitral valve.
Rare diseases that can present with this23
Common30–79%
10- 3C syndrome
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Congenitally uncorrected transposition of the great arteries
- Criss-cross heart
- Heart defects-limb shortening syndrome
- Hutchinson-Gilford progeria syndrome
- Mucolipidosis type II
- Noonan syndrome with multiple lentigines
- Rheumatic fever
- Von Willebrand disease
Sometimes5–29%
12- Atrial septal defect, ostium secundum type
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Coffin-Lowry syndrome
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Mosaic trisomy 20 syndrome
- Mucopolysaccharidosis type 2
- Mucopolysaccharidosis type 3
- Oculogastrointestinal muscular dystrophy
and 4 more in this range
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: Abnormality of the mitral valve
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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.