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 (traditional nomenclature)
            • 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]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • 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]