Legg-Calve-Perthes disease
Findings
No curated finding names Legg-Calve-Perthes disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.
Definition from the Mondo Disease Ontology (MONDO:0007885), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- Avascular necrosisHPO · MondoHP:0010885
- Very frequent (80% to 99% of cases)
- Cartilage destructionHPOHP:0100773
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Joint dislocationHPOHP:0001373
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
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.
- COL2A1HGNC:2200
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
10 names
Resolves to: Legg-Calve-Perthes disease
- Also called
- aseptic necrosis of the capital femoral epiphysisLegg Calvé Perthes DiseaseLegg-Calvé-Perthes diseaseLegg-Calve-Perthes symptomLegg-Calve-Perthes syndromeLegg-Perthes diseaseosteochondritis of the capital femoral epiphysisOsteochondrosis of the capital femoral epiphysisPerthe's diseasePerthes disease