Legend:

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

'Defects in O-xylose glycosaminoglycans' 'Defects in O-xylosylglycan synthesis'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • 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]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein O-glycosylation
      • 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]

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

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