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

'Genetic disorders of glycan synthesis (traditional nomenclature)'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Defects in N-glycan biosynthesis
    • Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
      • Type I CDGs
        • CDG-Ia (GDGDB) [PMM2]
          • CDG-Ia, infantile multisystem stage [PMM2]
          • CDG-Ia, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
          • CDG-Ia, adult stable disability stage [PMM2]
        • CDG-Ib (GDGDB) [MPI]
        • CDG-Ic (GDGDB) [ALG6]
        • CDG-Id (GDGDB) [ALG3]
        • CDG-Ie (GDGDB) [DPM1]
        • CDG-If (GDGDB) [MPDU1]
        • CDG-Ig (GDGDB) [ALG12]
        • CDG-Ih (GDGDB) [ALG8]
        • CDG-Ii (GDGDB) [ALG2]
        • CDG-Ij (GDGDB) [DPAGT1]
        • CDG-Ik (GDGDB) [ALG1]
        • CDG-IL (GDGDB) [ALG9]
        • CDG-Im [TMEM15]
        • CDG-In [RFT1]
      • Type II CDGs
        • CDG-IIa (GDGDB) [MGAT2]
        • CDG-IIb (GDGDB) [GCS1]
        • CDG-IIc (GDGDB) [SLC35C1]
        • CDG-IId (GDGDB) [B4GALT1]
        • CDG-IIe (GDGDB) [COG7]
        • CDG-IIf [SLC35A1]
        • CDG-IIg [COG1]
        • CDG-IIh [COG8]
        • CDG-IIi [COG5]
        • CDG-IIj [COG4]
      • Other CDGs
        • Oligosaccharyltransferase TUSC3 subunit defect [TUSC3]
        • V-ATPase a2 subunit defect [ATP6V0A2]
    • Other disorders that affect N-glycans
      • Congenital dyserythropoietic anaemia, type II (GDGDB) [SEC23B]
  • 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]
  • Defects in glycolipid synthesis
    • Defects in GSL synthesis
      • Amish infantile epilepsy syndrome [SIAT9]
    • Defects in GPI-anchor biosynthesis
      • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
      • Glycosylphosphatidylinositol deficiency [PIGM]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)

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

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