IEMbase 0350: GALNT3-related hyperphosphatemic familial tumoral calcinosis
Scope
| Field | Value |
|---|---|
| IEMbase ID | 350 |
| Nosology | 18.2.04.03 |
| Gene | GALNT3 |
| External IDs | OMIM:211900; ORPHA:306661 |
| Generated mapping | UNMAPPED; low candidate Bilateral_Striopallidodentate_Calcinosis.yaml |
| Candidate DisMech targets | No exact target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents GALNT3-related hyperphosphatemic familial tumoral calcinosis, although the cached label and abbreviation spell the gene-derived name as GALTNT3. Characteristic rows include cutaneous calcifications, ectopic calcifications, subcutaneous calcifications, increased phosphate, and normal sialotransferrins. Additional clinical rows include bone pain, hyperostosis, and visceral calcifications.
Treatment rows include low phosphate diet, phosphate binders, and phosphaturia-inducing therapies, all directed at lowering phosphate.
DisMech phenotype coverage
The generated UNMAPPED status is correct. The low-score Bilateral Striopallidodentate Calcinosis candidate is a calcification-neighbor false positive. That local file covers primary familial brain calcification with intracranial calcium-phosphate deposition and genes such as SLC20A2, XPR1, PDGFRB, PDGFB, MYORG, JAM2, and NAA60. It also emphasizes normal serum calcium and phosphate, which conflicts with the IEMbase hyperphosphatemic signal.
No current DisMech disease file appears to cover GALNT3-related hyperphosphatemic familial tumoral calcinosis.
Concordance and completeness
Judgement: true local gap; reject the Bilateral Striopallidodentate Calcinosis candidate.
IEMbase defines a systemic GALNT3/phosphate-handling disorder with ectopic, subcutaneous, cutaneous, and visceral calcifications, bone pain, hyperostosis, increased phosphate, and phosphate-lowering treatments. The generated candidate is an intracranial calcification disorder with different genes and a different biochemical profile.
Curation actions
- Keep this record unmapped until a dedicated GALNT3-related hyperphosphatemic familial tumoral calcinosis target exists.
- Preserve GALNT3 as the canonical gene symbol while noting the cached IEMbase spelling GALTNT3.
- Use IEMbase treatment rows as future curation prompts: low phosphate diet, phosphate binders, and phosphaturia-inducing therapies.