IEMbase 0674: PMVK-related phosphomevalonate kinase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 674 |
| Nosology | 14.7.03.01 |
| Nosology code | IEM0742 |
| Gene | PMVK |
| External IDs | OMIM:175800; ORPHA:735 |
| Generated mapping | UNMAPPED; best candidate Mevalonate_Kinase_Deficiency.yaml |
| Candidate DisMech targets | Broad mevalonate-pathway context only; no exact PMVK/POROK1 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal dominant PMVK-related phosphomevalonate kinase deficiency, labeled porokeratosis type 1 and porokeratosis of Mibelli.
The cached phenotype signal is dermatologic only: actinic porokeratosis and keratotic skin lesions in adolescence and adulthood. There are no biochemical rows in the cached record.
DisMech phenotype coverage
No exact PMVK, phosphomevalonate kinase deficiency, porokeratosis type 1, or porokeratosis of Mibelli target was identified.
Mevalonate_Kinase_Deficiency.yaml is a biologically adjacent but incorrect
target. It models autosomal recessive MVK-related systemic autoinflammation
across the HIDS/mevalonic-aciduria spectrum, with recurrent fever, elevated
mevalonic acid, inflammasome activation, and neurologic features in severe
disease. It does not model autosomal dominant PMVK-associated porokeratosis.
RNU12-related_Minor_Spliceopathy.yaml includes porokeratosis as part of CDAGS
syndrome, but that is an unrelated congenital spliceopathy context rather than
PMVK disease coverage.
Concordance and completeness
Judgement: true local gap. The generated mevalonate-kinase candidate is understandable as a pathway-neighbor match, but it would import the wrong gene, inheritance pattern, and systemic phenotype.
The IEMbase row is narrow, so the key preservation point is the adolescent/adult actinic porokeratosis and keratotic-lesion dermatologic presentation rather than classic mevalonate kinase deficiency features.
Curation actions
- Add a dedicated PMVK/POROK1 target if this disease is curated.
- Do not map this record to MVK-related mevalonate kinase deficiency.
- Treat RNU12/CDAGS porokeratosis as unrelated differential context only.
- Preserve actinic porokeratosis and keratotic skin lesions as the core phenotype prompts.