IEMbase 0675: MVD-related mevalonate pyrophosphate decarboxylase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 675 |
| Nosology | 14.7.04.01 |
| Nosology code | IEM0743 |
| Gene | MVD |
| External IDs | OMIM:614714; ORPHA:79152 |
| Generated mapping | UNMAPPED; best candidate Hereditary_Orotic_Aciduria.yaml |
| Candidate DisMech targets | Broad mevalonate/sterol-pathway context only; no exact MVD/POROK7 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal dominant MVD-related mevalonate pyrophosphate decarboxylase deficiency, labeled porokeratosis type 7.
The cached phenotype signal is dermatologic and concise: characteristic actinic porokeratosis and keratotic skin lesions in adolescence and adulthood. No biochemical rows are present in the cached record.
DisMech phenotype coverage
No exact MVD, mevalonate pyrophosphate decarboxylase deficiency, or porokeratosis type 7 local target was identified.
Hereditary_Orotic_Aciduria.yaml is a false positive and should not be used. It
is a pyrimidine-biosynthesis disorder, not a mevalonate/sterol-biosynthesis
porokeratosis disorder. Mevalonate_Kinase_Deficiency.yaml can orient the
upstream pathway, but it is MVK-related recessive autoinflammatory disease and
does not cover MVD-associated dominant porokeratosis.
Concordance and completeness
Judgement: true local gap.
The IEMbase row is a narrow dermatologic porokeratosis record. Existing local mevalonate-pathway content does not provide disease-level or phenotype-level coverage for the MVD/POROK7 entity.
Curation actions
- Add a dedicated MVD/POROK7 target if this disease is curated.
- Reject hereditary orotic aciduria as the generated candidate.
- Use mevalonate kinase deficiency only as broad pathway context, not as disease coverage.
- Preserve adolescent/adult actinic porokeratosis and keratotic skin lesions.