4.1.b
Disorders of O-linked protein glycosylation
Disorders of O-mannosylation
- POMT1-CDG (Muscular dystrophy-dystroglycanopathy type A1, severe); MDDGB1, intermediate; MDDGC1, milder)
- POMT2-CDG (MDDGA2; MDDGB2; MDDGC2)
- POMGNT1-CDG (MDDGA3; MDDGB3; MDDGC3; retinitis pigmentosa type 76)
- POMGNT2-CDG (MDDGA8)
- B3GALNT2-CDG (MDDGA11)
- POMK-CDG (MDDGA12; MDDGC12)
- CRPPA-CDG (MDDGA7; MDDGC7)
- FKTN-CDG (MDDGA4; MDDGB4; MDDGC4)
- FKRP-CDG (MDDGA5; MDDGB5; MDDGC5)
- RXYLT1-CDG (MDDGA1)
- B4GAT1-CDG (MDDGA13)
- LARGE1-CDG (MDDGA6; MDDGB6)
Disorders of O-fucosylation
- POFUT1-CDG (Dowling-Degos disease type 2)
- LFNG-CDG (Spondylocostal dysostosis type 3)
- B3GLCT-CDG (Peters-Plus syndrome)
Disorders of glycosaminoglycan synthesis and O-xylosylation
- Glycosaminoglycan xylosylkinase deficiency
- XYLT1-CDG (Desbuquois dysplasia type 2)
- XYLT2-CDG (Spondyloocular syndrome)
- B4GALT7-CDG (Progeroid Ehlers-Danlos syndrome type 1; Larsen of Reunion Island syndrome)
- B3GALT6-CDG (Spondyloepimetaphyseal dysplasia with joint laxity type 1; progeroid Ehlers-Danlos syndrome type 2)
- B3GAT3-CDG (Larsen-like syndrome)
- Multiple hereditary exostoses type 1 (Multiple hereditary exostoses type 1)
- Multiple hereditary exostoses type 2 (Multiple hereditary exostoses type 2)
- Autosomal recessive EXT2-related syndrome
- EXTL3-CDG (Immunoskeletal dysplasia with neurodevelopmental abnormalities)
- NDST1-CDG (Autosomal recessive intellectual disability type 46)
- HS6ST1-CDG (Hypogonadotropic hypogonadism type 15 with or without anosmia)
- HS6ST2-CDG (X-linked intellectual disability, Paganini-Miozzo type)
- CSGALNACT1-CDG
- CHSY1-CDG (Temtamy preaxial brachydactyly syndrome)
- CHST11-CDG
- CHST3-CDG (Autosomal recessive Larsen syndrome; spondyloepiphyseal dysplasia Omani type; humerospinal dysostosis)
- CHST14-CDG (Ehlers-Danlos syndrome musculocontractural type 1)
- DSE-CDG (Ehlers-Danlos syndrome musculocontractural type 2)
- CHST6-CDG (Macular corneal dystrophy)
- CANT1-CDG (Desbuquois dysplasia type 1; multiple epiphyseal dysplasia type 7)
- Sulfate transporter deficiency (Achondrogenesis type 1; atelosteogenesis type 2; diastrophic dysplasia; multiple epiphyseal dysplasia type 4)
- Phosphoadenosine 5′-phosphosulfate synthetase 2 deficiency (Spondyloepimetaphyseal dysplasia, Pakistani type)
- Golgi-resident phosphoadenosine phosphate phosphatase deficiency (Chondrodysplasia with joint dislocations, gPAPP type)
- SLC10A7-CDG
Other disorders of O-linked protein glycosylation
- GALNT3-CDG (Hyperphosphatemic familial tumoral calcinosis type 1; hyperostosis-hyperphosphatemia syndrome)
- GALNT14-CDG
- C1GALT1C-CDG (Tn polyagglutination syndrome)
- OGT-CDG (X-linked intellectual disability type 16)
- EOGT-CDG (Adams-Oliver syndrome type 4)
- POGLUT1-CDG (Dowling-Degos disease type 4)
Subnetworks
CDG
Congenital disorders of glycosylation and disorders of intracellular trafficking
