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
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