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hypertrophic osteoarthropathy, primary, autosomal recessive, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic osteoarthropathy, primary, autosomal recessive, 1

MONDO:0024546

Also known as:HPGD primary hypertrophic osteoarthropathyhypertrophic osteoarthropathy, primary, autosomal recessive 1primary hypertrophic osteoarthropathy caused by mutation in HPGD

Overview

Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.

GeneticsAutosomal recessive · HPGD (chr 4)

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: Limitation of joint mobility, Thickened calvaria, Seborrheic dermatitis, and Coarse facial features and 21 more.

Organ System	Phenotype Count	Example Features
Bones and joints	7	Limitation of joint mobility, Weak and brittle bones (osteoporosis), Mild bone density loss (osteopenia)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HPGD encodes 15-hydroxyprostaglandin dehydrogenase (266 aa). Catalyzes the NAD-dependent dehydrogenation (oxidation) of a broad array of hydroxylated polyunsaturated fatty acids (mainly eicosanoids and docosanoids, including prostaglandins, lipoxins and resolvins), yielding their corresponding keto (oxo) metabolites. Highest expression in Vagina (63.0 TPM) and Lung (51.5 TPM).

Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 is associated with mutations in the HPGD gene on chromosome 4.

The HPGD protein participates in LXA4 is oxidised to 15k-LXA4 by HPGD, PGD2/E2/F2a is oxidised to 15k-PGD2/E2/F2a by HPGD, and PGH2 is isomerised to PGD2 by HPGDS pathways.

HPGD is classified as a druggable target (Druggable Genome, Enzyme, and Short Chain Dehydrogenase Reductase categories) with score 0.2.

Diagnosis

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

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 recessive, 1.

14 publications have been identified in PubMed for hypertrophic osteoarthropathy, primary, autosomal recessive, 1. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (14%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	8	57%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:259100

GARD

Genetic and Rare Diseases Info Center

GARD:15216

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 recessive, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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 recessive, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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