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]
          • 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]
      • Lysosomal Storage Diseases (degradation)
        • Pathogenesis
          • Genetic disorders of glycan degradation
            • Disorders of glycoprotein metabolism
              • Defects in glycoprotein degradation
                • Aspartylglucosaminuria (GDGDB) [AGA]
                • Fucosidosis (GDGDB) [FUCA1]
                • Mannosidase deficiency diseases
                  • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Alpha-mannosidosis, type I (early-onset) [MAN2B1]
                    • Alpha-mannosidosis, type II (later-onset) [MAN2B1]
                  • Beta-mannosidosis (GDGDB) [MANBA]
                • Sialidosis (GDGDB) [NEU1]
                  • Sialidosis type I [NEU1]
                  • Sialidosis type II [NEU1]
                    • Sialidosis type II, congenital form [NEU1]
                    • Sialidosis type II, infantile form [NEU1]
                    • Sialidosis type II, juvenile form [NEU1]
              • Other disorders of glycoprotein metabolism
                • Schindler disease
                  • Schindler disease, type I (GDGDB) [NAGA]
                  • Schindler disease, type II (GDGDB) [NAGA]
                • Galactosialidosis (GDGDB) [CTSA]
              • Defects in post-translational modification of lysosomal enzymes
                • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
            • Disorders of glycosaminoglycan metabolism
              • Mucopolysaccharidosis I
                • Hurler syndrome (GDGDB) [IDUA]
                • Hurler-Scheie syndrome (GDGDB) [IDUA]
                • Scheie syndrome (GDGDB) [IDUA]
              • Mucopolysaccharidosis II (GDGDB) [IDS]
              • Mucopolysaccharidosis III
                • Sanfilippo syndrome A (GDGDB) [SGSH]
                • Sanfilippo syndrome B (GDGDB) [NAGLU]
                • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                • Sanfilippo syndrome D (GDGDB) [GNS]
              • Mucopolysaccharidosis IV
                • Morquio syndrome A (GDGDB) [GALNS]
                • Morquio syndrome B (GDGDB) [GLB1]
              • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                • Maroteaux-Lamy syndrome, severe form [ARSB]
                • Maroteaux-Lamy syndrome, mild form [ARSB]
                • Maroteaux-Lamy syndrome, intermediate form [ARSB]
              • Mucopolysaccharidosis VII (GDGDB) [GUSB]
            • Disorders of sphingolipid metabolism and other lipid storage disorders
              • Sphingolipidosis
                • Gangliosidosis
                  • GM1 gangliosidosis
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                  • GM2 gangliosidosis
                    • Tay-Sachs disease (GDGDB) [HEXA]
                      • Tay-Sachs disease, infantile form [HEXA]
                      • Tay-Sachs disease, late-onset forms [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                      • Sandhoff disease, infantile form [HEXB]
                      • Sandhoff disease, juvenile form [HEXB]
                      • Sandhoff disease, adult form [HEXB]
                    • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                • Other sphingolipidosis
                  • Fabry disease (GDGDB) [GLA]
                  • Gaucher disease
                    • Gaucher disease, type I (GDGDB) [GBA]
                    • Gaucher disease, type II (GDGDB) [GBA]
                      • Gaucher disease, type II, neuronopathic form, classic type [GBA]
                      • Gaucher disease, type II, perinatal lethal form [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                    • Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
                  • Krabbe disease (GDGDB) [GALC]
                    • Krabbe disease, infantile form [GALC]
                    • Krabbe disease, late-onset form [GALC]
                  • Sulfatidosis
                    • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Metachromatic leukodystrophy
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, infantile form [ARSA]
                        • Metachromatic leukodystrophy, juvenile form [ARSA]
                        • Metachromatic leukodystrophy, adult form [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                  • Niemann-Pick disease
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type C
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                  • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                    • Farber Lipogranulomatosis, type 1 [ASAH1]
                    • Farber Lipogranulomatosis, type 2 [ASAH1]
                    • Farber Lipogranulomatosis, type 3 [ASAH1]
                    • Farber Lipogranulomatosis, type 4 [ASAH1]
                    • Farber Lipogranulomatosis, type 5 [ASAH1]
                • Sphingolipidosis, unspecified
                  • Combined saposin deficiency (GDGDB) [PSAP]
              • Other lipid storage disorders
                • Wolman disease (GDGDB) [LIPA]
            • Other disorders of carbohydrate metabolism
              • Glycogen storage diseases
                • Pompe disease (GDGDB) [GAA]
                  • Pompe disease, infantile-onset form [GAA]
                  • Pompe disease, late-onset form [GAA]