hypertrophic osteoarthropathy, primary, autosomal dominant
MONDO:0008172Mondo
Findings
No curated finding names hypertrophic osteoarthropathy, primary, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
9 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.
- AcneHPOHP:0001061
- 2 of 2 reported patients
- Clubbing of fingersHPOHP:0100759
- 2 of 2 reported patients
- 3 of 3 reported patients · Male
- 0 of 3 reported patients · Female
- Elevated urinary prostaglandin E2 levelHPOHP:0034049
- 3 of 3 reported patients · Male
- Knee painHPOHP:0030839
- 2 of 2 reported patients
- Periosteal thickening of long tubular bonesHPOHP:0006465
- 2 of 2 reported patients
- Seborrheic dermatitisHPOHP:0001051
- 2 of 2 reported patients
- Thickened skinHPOHP:0001072
- 2 of 2 reported patients
- HyperhidrosisHPOHP:0000975
- 1 of 2 reported patients
- Secretory diarrheaHPOHP:0005208
- 1 of 2 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.
- SLCO2A1HGNC:10955
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: hypertrophic osteoarthropathy, primary, autosomal dominant
- Also called
- PHOAD