IEMbase 0768: SLCO2A1-related prostaglandin transporter deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 768 |
| Nosology | 14.3.03.01 |
| Nosology code | IEM0686 |
| Gene | SLCO2A1 |
| External IDs | OMIM:259100; OMIM:119900; ORPHA:468641 |
| Generated mapping | CANDIDATE; Primary_Hypertrophic_Osteoarthropathy.yaml |
| Candidate DisMech targets | Primary_Hypertrophic_Osteoarthropathy.yaml subtype PHOAR2 |
| Review date | 2026-07-08 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as SLCO2A1-related prostaglandin transporter deficiency, with alternate name primary hypertrophic osteoarthropathy type 2 and abbreviation PHOAR2. The source signal includes high urinary prostaglandin E2 and high urinary prostaglandin M across all age bands, digital clubbing, pachydermia, periostitis, arthralgia, arthritis, swollen joints, thickened skin, hand/foot enlargement, coarse facial features, hyperhidrosis, anemia, myelofibrosis, chronic gastritis, and peptic ulcer.
DisMech phenotype coverage
Primary_Hypertrophic_Osteoarthropathy.yaml is the correct local target. It
includes the PHOAR2 subtype for biallelic SLCO2A1 loss-of-function, impaired
PGE2 transport, elevated urinary PGE2, elevated urinary PGE-M, periosteal new
bone formation, connective tissue proliferation, myelofibrosis, and phenotype
coverage for digital clubbing, periostosis, pachydermia, cutis verticis
gyrata, arthralgia, hyperhidrosis, joint swelling, anemia, peptic ulcer, and
patent ductus arteriosus.
Concordance and completeness
Judgement: exact subtype coverage; generated candidate should be accepted.
The subtype identity, gene, inheritance, prostaglandin transporter mechanism, and biochemical pattern are concordant. IEMbase's PHOAR2-specific phenotype signal usefully emphasizes gastrointestinal and hematologic complications, including chronic gastritis, peptic ulcer, anemia, and myelofibrosis.
Curation actions
- Treat
Primary_Hypertrophic_Osteoarthropathy.yamlsubtype PHOAR2 as exact local coverage. - Consider adding explicit chronic gastritis coverage if supported by local evidence, because IEMbase lists it separately from peptic ulcer.
- Preserve the high PGE2 plus high PGE-M biochemical distinction from PHOAR1.