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    • LIPID METABOLISM AND TRANSPORT
      • 14    Disorders of lipid metabolism
        • 14.6    Disorders of sphingolipid synthesis and recycling
          • Serine palmitoyltransferase deficiency
          • Serine palmitoyltransferase small subunit A deficiency
          • 3-Ketodihydrosphingosine reductase deficiency
          • Ceramide synthase 1 deficiency
          • Ceramide synthase 2 deficiency
          • Ceramide synthase 3 deficiency
          • TLCD3B deficiency
          • Dihydroceramide desaturase deficiency
          • Alkaline ceramidase 3 deficiency
          • CYP4F22 omega hydroxylase deficiency
          • Fatty acid transport protein 4 deficiency
          • Acylceramide transacylase deficiency
          • UDP-glucose ceramide glucosyltransferase deficiency
          • ABCA12 lipid transporter deficiency
          • Arachidonate 12-lipoxygenase, R type deficiency
          • Arachidonate lipoxygenase 3 deficiency
          • SDR9C7 deficiency
          • Lipase N deficiency
          • Nonlysosomal glucosylceramidase deficiency
          • Fatty acid 2-hydroxylase deficiency
          • Sphingosine-1-phosphate lyase deficiency
          • Sphingosine-1-phosphate transporter deficiency
          • Sphingomyelin synthase 2 deficiency
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  • Gene products
  • Pathways
  • Multimers
  • More information
    • About Online IMD
OnlineIMD
  • Home
  • Diseases
    • LIPID METABOLISM AND TRANSPORT
      • 14    Disorders of lipid metabolism
        • 14.6    Disorders of sphingolipid synthesis and recycling
          • Serine palmitoyltransferase deficiency
          • Serine palmitoyltransferase small subunit A deficiency
          • 3-Ketodihydrosphingosine reductase deficiency
          • Ceramide synthase 1 deficiency
          • Ceramide synthase 2 deficiency
          • Ceramide synthase 3 deficiency
          • TLCD3B deficiency
          • Dihydroceramide desaturase deficiency
          • Alkaline ceramidase 3 deficiency
          • CYP4F22 omega hydroxylase deficiency
          • Fatty acid transport protein 4 deficiency
          • Acylceramide transacylase deficiency
          • UDP-glucose ceramide glucosyltransferase deficiency
          • ABCA12 lipid transporter deficiency
          • Arachidonate 12-lipoxygenase, R type deficiency
          • Arachidonate lipoxygenase 3 deficiency
          • SDR9C7 deficiency
          • Lipase N deficiency
          • Nonlysosomal glucosylceramidase deficiency
          • Fatty acid 2-hydroxylase deficiency
          • Sphingosine-1-phosphate lyase deficiency
          • Sphingosine-1-phosphate transporter deficiency
          • Sphingomyelin synthase 2 deficiency
  • Genes
  • Gene products
  • Pathways
  • Multimers
  • More information
    • About Online IMD

Sphingomyelin synthase 2 deficiency

  • Synonym(s)
    • Osteoporosis with calvarial doughnut lesions
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • SGMS2 / sphingomyelin synthase 2
      • 4q25
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • sphingomyelin synthase 2
  • Disease group(s)
    • 14.6    Disorders of sphingolipid synthesis and recycling