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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

'Congenital disorders of glycosylation (CDGs)'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein N-glycosylation
      • Defects in nucleotide-sugar biosynthesis
        • PMM2-CDG (GDGDB) [PMM2]
          • PMM2-CDG, infantile multisystem stage [PMM2]
          • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
          • PMM2-CDG, adult stable disability stage [PMM2]
        • MPI-CDG (GDGDB) [MPI]
        • PGM1-CDG [PGM1]
        • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
      • Defects in lipid-linked oligosaccharide biosynthesis
        • ALG6-CDG (GDGDB) [ALG6]
        • ALG3-CDG (GDGDB) [ALG3]
        • ALG12-CDG (GDGDB) [ALG12]
        • ALG8-CDG (GDGDB) [ALG8]
        • ALG2-CDG (GDGDB) [ALG2]
        • DPAGT1-CDG (GDGDB) [DPAGT1]
        • ALG1-CDG (GDGDB) [ALG1]
        • ALG9-CDG (GDGDB) [ALG9]
        • RFT1-CDG [RFT1]
        • DPM3-CDG [DPM3]
        • ALG11-CDG [ALG11]
        • ALG13-CDG [ALG13]
      • Defects in N-glycosylation
        • TMEM165-CDG [TMEM165]
        • Defects in oligosaccharyltransferase subunits
          • TUSC3-CDG [TUSC3]
          • DDOST-CDG [DDOST]
        • Defects in N-glycan trimming
          • GCS1-CDG (GDGDB) [GCS1]
          • Mental retardation, autosomal recessive 15 [MAN1B1]
        • Defect in N-glycan branching
          • MGAT2-CDG (GDGDB) [MGAT2]
    • 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]
    • Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
      • Disorders of glycosphingolipid biosynthesis
        • ST3GAL5-CDG [SIAT9]
      • Disorders of glycosylphosphatidylinositol anchor biosynthesis
        • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        • PIGM-CDG [PIGM]
        • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
    • Defects in multiple glycosylation and other pathways
      • DPM1-CDG (GDGDB) [DPM1]
      • MPDU1-CDG (GDGDB) [MPDU1]
      • B4GALT1-CDG (GDGDB) [B4GALT1]
      • GNE-CDG (hereditary inclusion body myopathy)
        • Hereditary inclusion body myopathy type 2 [GNE]
        • Nonaka myopathy (GDGDB) [GNE]
      • Defects in dolichol biosynthesis
        • DOLK-CDG [TMEM15]
        • SRD5A3-CDG [SRD5A3]
      • Mental retardation, autosomal recessive 12 [ST3GAL3]
      • Defects in nucleotide-sugar transport
        • SLC35C1-CDG (GDGDB) [SLC35C1]
        • SLC35A1-CDG [SLC35A1]
        • SLC35D1-CDG [SLC35D1]
      • Defects in vesicular transport
        • SEC23B-CDG (GDGDB) [SEC23B]
        • Defects in COG protein complex
          • COG7-CDG (GDGDB) [COG7]
          • COG1-CDG [COG1]
          • COG8-CDG [COG8]
          • COG5-CDG [COG5]
          • COG4-CDG [COG4]
          • COG6-CDG [COG6]
        • Defect in V-ATPase a2 subunit
          • ATP6VOA2-CDG [ATP6V0A2]

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

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