IEMbase 0191: MVK-related mild mevalonate kinase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 191 |
| Nosology | 14.7.01.01 |
| Gene | MVK |
| External IDs | OMIM:260920; ORPHA:343 |
| Generated mapping | MAPPED; Mevalonate_Kinase_Deficiency.yaml#HIDS |
| Candidate DisMech targets | Mevalonate_Kinase_Deficiency.yaml#HIDS |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as MVK-related mevalonate kinase deficiency (mild), with alternate labels hyper Ig D syndrome, mevalonic aciduria, and HIDS. Treatability is marked yes.
The biochemical rows include increased urinary mevalonic acid, normal serum cholesterol, normal-to-increased erythrocyte sedimentation rate, low-to-normal plasma coenzyme Q10, and normal-to-increased immunoglobulin D. Characteristic clinical rows are anemia and thrombocytopenia. Additional rows include diarrhea, hepatosplenomegaly, variable axial hypotonia, leukocytosis, and malabsorption. No treatment rows are listed in this IEMbase record.
DisMech phenotype coverage
Mevalonate_Kinase_Deficiency.yaml#HIDS is the correct target. The local entry
models the HIDS/mild MKD end of the MVK spectrum, reduced mevalonate kinase
activity, isoprenoid shortage, defective protein prenylation, RhoA/pyrin
inflammasome activation, IL-1 beta driven recurrent inflammatory attacks,
urinary mevalonic acid, elevated IgD/IgA, recurrent fever, cervical
lymphadenopathy, abdominal symptoms, rash, arthralgia, aphthous ulcers, and
multiple treatment options including canakinumab, anakinra, etanercept,
NSAIDs/corticosteroids, and hematopoietic stem cell transplantation in severe
contexts.
Concordance and completeness
Judgement: correct mapped subtype with high concordance, but local coverage is substantially richer.
IEMbase and DisMech agree on MVK/HIDS identity, mevalonic acid elevation, inflammatory laboratory findings, GI involvement, hepatosplenomegaly, cytopenia rows, and the mild end of the MKD spectrum. DisMech adds the central prenylation-pyrin inflammasome mechanism, recurrent fever attack phenotype, lymphadenopathy, rash, arthralgia, oral ulcers, IgA context, and the main IL-1-targeted treatment model. IEMbase adds explicit low-to-normal coenzyme Q10 and a compact cytopenia/malabsorption summary.
Curation actions
- Keep this record mapped to
Mevalonate_Kinase_Deficiency.yaml#HIDS. - Consider coenzyme Q10 and malabsorption as possible review targets if the HIDS subtype is enriched.
- Do not infer absent treatment from IEMbase; local treatment coverage is stronger than this JSON record.