Legend:

• Concept Types
  • target (pathway-based classification term)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

'Disorders of O-linked glycosylation' 'Defects in protein O-glycosylation'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-mannose glycans
      • Walker-Warburg syndrome (GDGDB) [POMT1,POMT2]
      • Muscle-eye-brain disease (GDGDB) [POMGNT1]
      • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
      • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
      • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
      • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
      • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
      • Congenital muscular dystrophy type 1D [LARGE]
      • Duchenne muscular dystrophy [DMD]
      • Hereditary inclusion body myopathy type 2 [GNE]
      • Nonaka myopathy (GDGDB) [GNE]
    • Defects in O-xylose glycosaminoglycans
      • Ehlers-Danlos syndrome, progeroid form [B4GALT7]
      • Hereditary multiple exostoses [EXT1,EXT2]
      • GAG Sulfation Deficiencies
        • Macular corneal dystrophy [CHST6]
        • Chondrodysplasias (CDs)
          • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
          • Other CDs
            • Diastrophic dysplasia [SLC26A2]
            • Achondrogenesis type IB [SLC26A2]
            • Neonatal osseous dysplasia I [SLC26A2]
            • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
      • Schneckenbecken dysplasia [SLC35D1]
    • Defects in O-GalNAc glycans
      • Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
      • Tumoral calcinosis, hyperphosphatemic, familial [GALNT3]
    • Defects in O-fucosylglycan synthesis
      • Peters-plus syndrome [B3GALTL]
      • Spondylocostal dysostosis 3, autosomal recessive [LFNG]
    • Defects in O-galactosyl glycan biosynthesis
      • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
      • Bruck syndrome 2 (GDGDB) [PLOD2]
      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein O-glycosylation
      • Defects in O-mannosylglycan synthesis
        • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        • FKTN-CDG (cong. muscular dystrophy spectrum)
          • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
          • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        • FKRP-CDG (cong. muscular dystrophy spectrum)
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
          • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
      • Defects in O-xylosylglycan synthesis
        • Defective GAG Sulfation
          • Macular corneal dystrophy [CHST6]
          • Chondrodysplasias (CDs)
            • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
            • Diastrophic dysplasia [SLC26A2]
            • Achondrogenesis type IB [SLC26A2]
            • Neonatal osseous dysplasia I [SLC26A2]
            • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Linkage glycan defects
          • B4GALT7-CDG [B4GALT7]
        • Impaired heparan sulfate synthesis
          • EXT1/EXT2-CDG [EXT1,EXT2]
        • Defect in GAG core biosynthesis
          • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        • Defect in GAG chain polymerization
          • Temtamy preaxial brachydactyly syndrome [CHSY1]
      • Defects in O-GalNAc glycan biosynthesis
        • Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
        • GALNT3-CDG [GALNT3]
      • Defects in O-fucosylglycan synthesis
        • B3GALTL-CDG [B3GALTL]
        • LFNG-CDG [LFNG]

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)