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Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.
Features include always present findings: Secretory diarrhea; and common findings: Seborrheic dermatitis, Hypoalbuminemia, Knee pain, and Thickened skin and others. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 3 | Seborrheic dermatitis, Thickened skin, Excessive sweating (hyperhidrosis) |
Digestive system | 1 | Secretory diarrhea |
SLCO2A1 function has not been fully characterized.
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 is associated with mutations in the SLCO2A1 gene on chromosome 3.
Genetic testing for SLCO2A1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 6 common features.
No clinical trials have been registered for hypertrophic osteoarthropathy, primary, autosomal recessive, 2.
28 publications have been identified in PubMed for hypertrophic osteoarthropathy, primary, autosomal recessive, 2. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 14 | 50% |
Research summaries | 5 | 18% |
Laboratory research | 4 | 14% |
Disease patterns and progression | 4 | 14% |
Other research | 1 | 4% |
Krugh M (2026). [PMID: 31082012](https://pubmed.ncbi.nlm.nih.gov/31082012/). *Unknown Journal*. [Review / Meta-Analysis]
Magazin M (2026). [PMID: 41718423](https://pubmed.ncbi.nlm.nih.gov/41718423/). *Orbit*. [Review / Meta-Analysis]
Lobinger D (2026). [PMID: 40763760](https://pubmed.ncbi.nlm.nih.gov/40763760/). *Pneumologie*. [Case Report / Case Series]
Staunton MK (2026). [PMID: 42011393](https://pubmed.ncbi.nlm.nih.gov/42011393/). *JAAD Case Rep*. [Case Report / Case Series]
Gupta P (2026). [PMID: 41522567](https://pubmed.ncbi.nlm.nih.gov/41522567/). *Indian J Hematol Blood Transfus*. [Case Report / Case Series]
Cajiao K (2026). [PMID: 41865604](https://pubmed.ncbi.nlm.nih.gov/41865604/). *Clinics (Sao Paulo)*. [Basic Science / Preclinical]
Grechin C (2025). [PMID: 41412988](https://pubmed.ncbi.nlm.nih.gov/41412988/). *Br J Dermatol*. [Case Report / Case Series]
Mohammad M (2025). [PMID: 41116940](https://pubmed.ncbi.nlm.nih.gov/41116940/). *Cureus*. [Case Report / Case Series]
Li J (2025). [PMID: 40140750](https://pubmed.ncbi.nlm.nih.gov/40140750/). *BMC Pediatr*. [Review / Meta-Analysis]
Sable MN (2025). [PMID: 40405524](https://pubmed.ncbi.nlm.nih.gov/40405524/). *Indian J Pathol Microbiol*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:05 PM UTC
Online Mendelian Inheritance in Man
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