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hypertrophic osteoarthropathy, primary, autosomal dominant (PHOAD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic osteoarthropathy, primary, autosomal dominant

MONDO:0008172

Also known as:PHOADPDP, autosomal dominantPho, autosomal dominant

Overview

GeneticsAutosomal dominant · SLCO2A1 (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Seborrheic dermatitis, Elevated urinary prostaglandin E2 level, Knee pain, and Thickened skin and others; and common findings: Excessive sweating (hyperhidrosis) and Secretory diarrhea. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Seborrheic dermatitis, Thickened skin, Excessive sweating (hyperhidrosis)

Genetic Landscape

SLCO2A1 function has not been fully characterized.

Hypertrophic osteoarthropathy, primary, autosomal dominant is associated with mutations in the SLCO2A1 gene on chromosome 3.

Diagnosis

Genetic testing for SLCO2A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypertrophic osteoarthropathy, primary, autosomal dominant.

51 publications have been identified in PubMed for hypertrophic osteoarthropathy, primary, autosomal dominant. Research spans Case Report / Case Series (59%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	30	59%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:167100

GARD

Genetic and Rare Diseases Info Center

GARD:15101

Questions for Your Care Team

→Should I pursue genetic testing for SLCO2A1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

hypertrophic osteoarthropathy, primary, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypertrophic osteoarthropathy, primary, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications