Legend:

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

'Defects in glycolipid synthesis' 'Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • 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]

Pathogenesis (new nomenclature)

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

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

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