Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.

Modern rheumatology - 1 Mar 2015

Erken Eren, Köroğlu Çiğdem, Yıldız Fatih, Özer Hüseyin T E, Gülek Bozkurt, Tolun Aslıhan

Abstract excerpt

We present two PHO siblings having a novel homozygous truncating mutation in HPGD. The purpose of the study was to attempt medical treatment, and to find the HPGD mutation causing the disease, in a 22-year old Turkish male and his 23-year old sister afflicted with primary hypertrophic osteoarthropathy (PHO). In combination with NSAIDs and colchicine, treatment with sulfasalazine was started in both cases, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Predisposition to Disease
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Pedigree

Share to Young Adult

Source

Identifiers

PMID: 24533558
DOI: 10.3109/14397595.2013.874757

Genes

HPGD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.PMID 24533558Read ↗

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.Semantic proximity Read ↗

A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.Semantic proximity Read ↗

[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy].Semantic proximity Read ↗

Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.Semantic proximity Read ↗

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.Semantic proximity Read ↗

Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.Semantic proximity Read ↗

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathySemantic proximity Read ↗

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.Semantic proximity Read ↗

Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.Semantic proximity Read ↗

[Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations].Semantic proximity Read ↗

Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy.Semantic proximity Read ↗

Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.