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Article

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Rheumatology (Oxford, England) - 1 Jun 2010

Diggle Christine P, Carr Ian M, Zitt Emanuel, Wusik Katie, Hopkin Robert J, Prada Carlos E, Calabrese Olga, Rittinger Olaf, Punaro Marilynn G, Markham Alexander F, Bonthron David T

Abstract excerpt

OBJECTIVE: Homozygous recessive germline mutations of the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene, encoding 15-hydroxyprostaglandin dehydrogenase, result in persistent elevation of circulating PGE(2) levels, causing the syndrome of primary hypertrophic osteoarthropathy (PHO). Homozygous HPGD mutations have so far been reported in 10 families, all but one displaying parental consanguinity. Only two of...

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Identifiers

PMID: 20299379
DOI: 10.1093/rheumatology/keq048

Genes

HPGD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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