mevalonic aciduria
Findings
No curated finding names mevalonic aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
Definition from the Mondo Disease Ontology (MONDO:0012481), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnemiaHPOHP:0001903
- 3 of 3 reported patients
- AtaxiaHPOHP:0001251
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Attenuation of retinal blood vesselsHPOHP:0007843
- 3 of 3 reported patients
- CataractHPOHP:0000518
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 4 of 4 reported patients
Show the remaining 37
- Increased total leukocyte countHPOHP:0001974
- 3 of 3 reported patients
- Recurrent infectionsHPOHP:0002719
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- 5 of 6 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MVKHGNC:7530
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: mevalonic aciduria
- Also called
- complete mevalonate kinase deficiencyHIDShyperimmunoglobulin D with periodic fever syndromeMKDMVA