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isolated congenital digital clubbing - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated congenital digital clubbing

MONDO:0007343

Also known as:isolated congenital acropachyisolated congenital nail clubbingacropachy, hereditary

Overview

Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.

GeneticsAutosomal recessive · HPGD (chr 4)

Clinical Presentation

Features include always present findings: Clubbing.

Explore clinical features

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).

Isolated congenital digital clubbing 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.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: Unknown (Unknown prevalence).

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 isolated congenital digital clubbing.

46 publications have been identified in PubMed for isolated congenital digital clubbing. Research spans Case Report / Case Series (54%), Basic Science / Preclinical (15%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	25	54%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:119900

Orphanet

European rare disease database

Orphanet:217059

GARD

Genetic and Rare Diseases Info Center

GARD:17117

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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isolated congenital digital clubbing

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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