2.1.f
Disorders of sphingolipid synthesis and recycling
- Serine palmitoyltransferase subunit 1 deficiency (Hereditary sensory and autonomic neuropathy type 1A)
- Serine palmitoyltransferase subunit 2 deficiency (Hereditary sensory and autonomic neuropathy type 1C)
- 3-Ketodihydrosphingosine reductase deficiency (Erythrokeratodermia variabilis et progressiva type 4)
- Ceramide synthase 1 deficiency (Progressive myoclonic epilepsy type 8)
- Ceramide synthase 2 deficiency
- Ceramide synthase 3 deficiency (Autosomal recessive congenital ichthyosis type 9)
- Dihydroceramide desaturase deficiency
- Alkaline ceramidase 3 deficiency (Early childhood-onset progressive leukodystrophy)
- CYP4F22 omega hydroxylase deficiency (Autosomal recessive congenital ichthyosis type 5)
- Fatty acid transport protein 4 deficiency (Ichthyosis prematurity syndrome)
- Acylceramide transacylase deficiency (Autosomal recessive congenital ichthyosis type 1)
- UDP-glucose ceramide glucosyltransferase deficiency (Autosomal recessive congenital ichthyosis)
- ABCA12 lipid transporter deficiency (Autosomal recessive congenital ichthyosis type 4)
- Arachidonate 12-lipoxygenase, R type deficiency (Autosomal recessive congenital ichthyosis type 2)
- Arachidonate lipoxygenase 3 deficiency (Autosomal recessive congenital ichthyosis type 3)
- SDR9C7 deficiency (Autosomal recessive congenital ichthyosis type 13)
- Nonlysosomal glucosylceramidase deficiency (Autosomal recessive spastic paraplegia type 46)
- Fatty acid 2-hydroxylase deficiency (Autosomal recessive spastic paraplegia type 35; fatty acid hydroxylase-associated neurodegeneration – FAHN)
- Sphingosine-1-phosphate lyase deficiency
- Sphingosine-1-phosphate transporter deficiency
- Sphingomyelin synthase 2 deficiency (Osteoporosis with calvarial doughnut lesions)
Subnetworks
PD
Peroxisomal and lipid-related disorders
