Legend:

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

'Disorders of glycoprotein metabolism'  (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 by systems

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