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    • LIPID METABOLISM AND TRANSPORT
      • 14    Disorders of lipid metabolism
        • 14.2    Disorders of peroxisomal fatty acid oxidation
          • D-bifunctional protein deficiency
            • Perrault syndrome type 1
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  • Pathways
  • Multimers
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OnlineIMD
  • Home
  • Diseases
    • LIPID METABOLISM AND TRANSPORT
      • 14    Disorders of lipid metabolism
        • 14.2    Disorders of peroxisomal fatty acid oxidation
          • D-bifunctional protein deficiency
            • Perrault syndrome type 1
  • Genes
  • Gene products
  • Pathways
  • Multimers
  • More information
    • About Online IMD

D-bifunctional protein deficiency

  • Synonym(s)
    • Pseudo-Zellweger syndrome
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • HSD17B4 / HSD17B4
      • 5q23.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Hydroxysteroid 17-beta dehydrogenase 4
  • Disease group(s)
    • 14.2    Disorders of peroxisomal fatty acid oxidation
  • Child entries
    • Perrault syndrome type 1