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Article

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.

European journal of human genetics : EJHG - 1 Dec 2009

Seifert Wenke, Beninde Julia, Hoffmann Katrin, Lindner Tom H, Bassir Christian, Aksu Fuat, Hübner Christoph, Verbeek Nienke E, Mundlos Stefan, Horn Denise

Abstract excerpt

Cranio-osteoarthropathy, clinically classified as a variant of primary hypertrophic osteoarthropathy, is a very rare autosomal-recessive condition characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Recently, mutations in the gene HPGD, which encodes the NAD(+)-dependent 15-hydroxyprostaglandin dehydrogenase, were reported in four families...

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Identifiers

PMID: 19568269
DOI: 10.1038/ejhg.2009.104
PMCID: PMC2987025

Genes

HPGD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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