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IEMbase 0767: HPGD-related 15-hydroxy-prostaglandin dehydrogenase deficiency

Scope

Field Value
IEMbase ID 767
Nosology 14.3.02.01
Nosology code IEM0685
Gene HPGD
External IDs OMIM:259100; OMIM:119900; ORPHA:217059
Generated mapping CANDIDATE; Primary_Hypertrophic_Osteoarthropathy.yaml
Candidate DisMech targets Primary_Hypertrophic_Osteoarthropathy.yaml subtype PHOAR1
Review date 2026-07-08

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as HPGD-related 15-hydroxy-prostaglandin dehydrogenase deficiency, with alternate name primary hypertrophic osteoarthropathy type 1 and abbreviation PHOAR1. The source signal includes high urinary prostaglandin E2 across all age bands, normal urinary prostaglandin M, digital clubbing, pachydermia, periostitis, arthralgia, arthritis, swollen joints, thickened skin, hand/foot enlargement, coarse facial features, cranial suture defects, hyperhidrosis, and patent ductus arteriosus.

DisMech phenotype coverage

Primary_Hypertrophic_Osteoarthropathy.yaml is the correct local target. It models PHO as an HPGD/SLCO2A1 prostaglandin E2 metabolism disorder and includes a PHOAR1 subtype for biallelic HPGD loss-of-function. The local pathophysiology captures defective PGE2 degradation, elevated PGE2, periosteal new bone formation, connective tissue proliferation, and phenotypes including digital clubbing, periostosis, pachydermia, cutis verticis gyrata, arthralgia, hyperhidrosis, joint swelling, delayed cranial suture closure, anemia, peptic ulcer, and patent ductus arteriosus.

Concordance and completeness

Judgement: exact subtype coverage; generated candidate should be accepted.

The disease identity, gene, inheritance, PGE2 mechanism, and clinical triad are strongly concordant. The main discrepancy is biochemical: IEMbase records urinary prostaglandin M as normal for HPGD/PHOAR1, while the local PHO entry models decreased urinary PGE-M in PHOAR1 and elevated PGE-M in PHOAR2. That difference should be reviewed before converting IEMbase's PGE-M row into a curated biochemical assertion.

Curation actions

  • Treat Primary_Hypertrophic_Osteoarthropathy.yaml subtype PHOAR1 as exact local coverage.
  • Review the IEMbase normal urinary prostaglandin M row against local decreased PHOAR1 PGE-M evidence before making any KB change.
  • Preserve hand/foot enlargement, coarse facial features, arthritis, and cranial suture defects as phenotype-completeness prompts.