OnlineIMD

Mevalonate kinase deficiency

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • MVK / Mevalonate Kinase
      • 12q24.11
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Mevalonate kinase
  • Disease group(s)
    • 14.7.1    Disorders of sterol biosynthesis
  • Child entries
    • Mevalonic aciduria
    • Hyper-IgD syndrome
    • Porokeratosis type 3