OnlineIMD

Hydroxyprolinemia

  • Synonym(s)
    • Hydroxyproline dehydrogenase deficiency
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • PRODH2 / Proline Dehydrogenase 2
      • 19q13.12
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Proline dehydrogenase 2, mitochondrial
  • Pathway
    • Ornithine, proline and hydroxyproline metabolism
  • Disease group(s)
    • 1.7        Disorders of ornithine, proline and hydroxyproline metabolism