Legend:

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

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors (synthesis)
        • Pathogenesis
          • 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]