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last update : 18-10-2016
Symbol MVKD
Location 12q24.11
Name mevalonate kinase deficiency
Corresponding gene MVK
Other symbol(s) MVK
Main clinical features
  • acute infantile form, characterized by dysmorphic features, cataract, diarrhea, failure to thrive, recurrent fever, hepatomegaly, splenomegaly, lymphadenopathy, anemia, normal cholesterol level and death in infancy
  • Genetic determination autosomal recessive
    Related entries . including moderate form with psychomotor retardation, hypotonia, myopathy and ataxia, mevalonicaciduria, see also HIDS
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name mevalonate kinase (MVK)
  • possible role for GRID2 as possible phenotype modifier in MVK patients, especially in those with severe phenotypes (PMID: 25146332))