Legend:

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

'Neuromuscular Manifestations'  (Integration tree)

Pathogenesis

• Genetic disorders of glycan degradation

Disorders by systems

• Genetic disorders of glycan degradation (by systems, signs and symptoms)
  • Diseases
    • Nervous System Diseases
      • Neurologic Manifestations
        • Neuromuscular Manifestations
          • Fasciculation
            • Gaucher disease, type II (GDGDB) [GBA]
            • Combined saposin deficiency (GDGDB) [PSAP]
          • Muscle Hypertonia
            • Muscle Rigidity
              • Krabbe disease (GDGDB) [GALC]
                • Krabbe disease, infantile form [GALC]
                • Krabbe disease, late-onset form [GALC]
              • Metachromatic leukodystrophy (GDGDB) [ARSA]
              • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
            • Muscle Spasticity
              • Fucosidosis (GDGDB) [FUCA1]
              • Tay-Sachs disease (GDGDB) [HEXA]
              • Metachromatic leukodystrophy (GDGDB) [ARSA]
              • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
              • Niemann-Pick disease, type A (GDGDB) [SMPD1]
          • Muscle Hypotonia
            • Beta-mannosidosis (GDGDB) [MANBA]
            • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
            • Combined saposin deficiency (GDGDB) [PSAP]
            • Wolman disease (GDGDB) [LIPA]
            • Pompe disease (GDGDB) [GAA]
          • Muscle Weakness
            • Alpha-mannosidosis (GDGDB) [MAN2B1]
            • GM1-gangliosidosis, type I (GDGDB) [GLB1]
            • GM1-gangliosidosis, type II (GDGDB) [GLB1]
            • GM1-gangliosidosis, type III (GDGDB) [GLB1]
            • Tay-Sachs disease (GDGDB) [HEXA]
            • Sandhoff disease (GDGDB) [HEXB]
            • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
            • Krabbe disease (GDGDB) [GALC]
              • Krabbe disease, infantile form [GALC]
              • Krabbe disease, late-onset form [GALC]
            • Metachromatic leukodystrophy (GDGDB) [ARSA]
            • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
            • Pompe disease (GDGDB) [GAA]
          • Muscular Atrophy
            • Metachromatic leukodystrophy (GDGDB) [ARSA]
            • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]