OnlineIMD

Diacylglycerol kinase epsilon deficiency

  • Synonym(s)
    • Nephrotic syndrome type 7,
    • atypical hemolytic uremic syndrome type 7
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • DGKE / diacylglycerol kinase epsilon
      • 17q22
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Diacylglycerol kinase epsilon
  • Disease group(s)
    • 14.5.1    Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
  • Child entries
    • DGKE-related immunoglobulin-mediated membranoproliferative glomerulonephritis