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Mevalonic aciduria
1 OMIM reference -
1 associated gene
11 connected diseases
17 signs/symptoms
Disease Type of connection
Disseminated superficial actinic porokeratosis
Hyperimmunoglobulinemia D with periodic fever
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
B-cell chronic lymphocytic leukemia
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Brain demyelination due to methionine adenosyltransferase deficiency
Synonym(s):
- Complete mevalonate kinase deficiency
- MVA
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D054078
Gene symbol UniProt reference OMIM reference
MVK Q03426251170
Very frequent
- Autosomal recessive inheritance
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delayed bone age
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Splenomegaly
- Triangular face

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Blue sclerae
- Cataract / lens opacification
- Low set ears / posteriorly rotated ears