metachondromatosis
MONDO:0007979Mondo
Findings
No curated finding names metachondromatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
Definition from the Mondo Disease Ontology (MONDO:0007979), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Multiple enchondromatosisHPOHP:0005701
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Multiple exostosesHPOHP:0002762
- 12 of 12 reported patients
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Avascular necrosisHPOHP:0010885
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Pulmonic stenosisHPOHP:0001642
- 0 of 12 reported patients
- Webbed neckHPOHP:0000465
- 0 of 12 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTPN11HGNC:9644
- Strong · Ambry Genetics · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of