4.1.c
Disorders of lipid glycosylation
Disorders of glycosylphosphatidylinositol biosynthesis
- PIGA-CDG (Multiple congenital anomalies-hypotonia-seizures syndrome type 2; GPI biosynthesis defect type 4; early infantile epileptic encephalopathy type 2)
- PIGC-CDG (GPI biosynthesis defect type 16; autosomal recessive intellectual disability type 62)
- PIGQ-CDG
- PIGH-CDG
- PIGP-CDG (GPI biosynthesis defect type 14; early infantile epileptic encephalopathy type 55)
- PIGY-CDG (Hyperphosphatasia with intellectual disability type 6; GPI biosynthesis defect type 12)
- PIGL-CDG (CHIME syndrome; GPI biosynthesis defect type 5)
- PIGW-CDG (Hyperphosphatasia with intellectual disability type 5; GPI biosynthesis defect type 11)
- PIGM-CDG (GPI biosynthesis defect type 1)
- PIGV-CDG (Hyperphosphatasia with intellectual disability type 1; GPI biosynthesis defect type 2)
- PIGN-CDG (Multiple congenital anomalies-hypotonia-seizures syndrome type 1; GPI biosynthesis defect type 3)
- PIGB-CDG
- PIGO-CDG (Hyperphosphatasia with intellectual disability type 2; GPI biosynthesis defect type 6)
- PIGG-CDG (Autosomal recessive intellectual disability type 53; GPI biosynthesis defect type 13)
- PIGT-CDG (Multiple congenital anomalies-hypotonia-seizures syndrome type 3, GPI biosynthesis defect type 7)
- PIGS-CDG
- PIGU-CDG
- PIGK-CDG
- GPAA1-CDG (GPI biosynthesis defect type 15)
- PGAP1-CDG (Autosomal recessive intellectual disability type 42; GPI biosynthesis defect type 9)
- PGAP3-CDG (Hyperphosphatasia with intellectual disability type 4; GPI biosynthesis defect type 1)
- PGAP2-CDG (Hyperphosphatasia with intellectual disability type 3; GPI biosynthesis defect type 8)
Other disorders of lipid glycosylation
- ST3GAL5-CDG (GM3 synthase deficiency; Amish infantile epilepsy syndrome; salt and pepper developmental regression syndrome)
- B4GALNT1-CDG (GM2/GD2 synthase deficiency; autosomal recessive spastic paraplegia type 26)
- ST3GAL3-CDG (GD1a/GT1b synthase deficiency)
- A4GALT-CDG (GB3 synthase deficiency; NOR polyagglutination syndrome)
Subnetworks
CDG
Congenital disorders of glycosylation and disorders of intracellular trafficking
