4.01.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 1 1

CDG

Congenital disorders of glycosylation and disorders of intracellular trafficking

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