OnlineIMD

Methylmalonic aciduria and homocystinuria, cblC type

(CblC disease)
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • MMACHC / Methylmalonic Aciduria CblC Type Protein
      • 1p34.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Methylmalonic aciduria type C protein, mitochondrial
  • Disease group(s)
    • 21.9.2    Disorders of intracellular cobalamin metabolism
  • Child entries
    • CcblC epimutation variant
    • Methylmalonic aciduria and homocystinuria, cblX type
    • ZNF143 deficiency
    • Ronin deficiency