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 O-mannose glycans' 'Defects in O-mannosylglycan synthesis'  (Integration tree)

Pathogenesis (traditional nomenclature)

• 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]

Pathogenesis (new nomenclature)

• 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]

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

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