Legend:

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

'Genetic disorders of glycan degradation'  (Integration tree)

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]

Disorders by systems

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