hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Findings
No curated finding names hypertrophic osteoarthropathy, primary, autosomal recessive, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013756), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
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.
- Secretory diarrheaHPOHP:0005208
- 7 of 7 reported patients
- AcneHPOHP:0001061
- 5 of 7 reported patients
- ClubbingHPOHP:0001217
- 5 of 7 reported patients
- Knee painHPOHP:0030839
- 5 of 7 reported patients
- Seborrheic dermatitisHPOHP:0001051
- 5 of 7 reported patients
- Thickened skinHPOHP:0001072
- 5 of 7 reported patients
- HypoalbuminemiaHPOHP:0003073
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 recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: hypertrophic osteoarthropathy, primary, autosomal recessive, 2
- Also called
- hypertrophic osteoarthropathy, primary, autosomal recessive 2hypertrophic osteoarthropathy, primary, autosomal recessive, type 2primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1SLCO2A1 primary hypertrophic osteoarthropathy