Legend:

• Concept Types
  • target (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 (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]