Sphingolipidosis

Part of

Sub-types of Sphingolipidosis

• Fabry disease 64 trials
• Gaucher disease 46 trials
  5 sub-types

  • Gaucher disease type I 12 trials
  • Gaucher disease type III 12 trials
  • Gaucher disease type II 5 trials
  • Gaucher disease perinatal lethal 0 trials
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 0 trials
• Gangliosidosis 3 trials · 24 incl. sub-types
  2 sub-types

  • GM2 gangliosidosis 14 trials · 19 incl. sub-types Sub-types →
  • GM1 gangliosidosis 12 trials Sub-types →
• Niemann-Pick disease 10 trials · 22 incl. sub-types
  4 sub-types

  • Niemann-Pick disease type C 12 trials · 13 incl. sub-types Sub-types →
  • Acid sphingomyelinase deficiency 7 trials · 10 incl. sub-types Sub-types →
  • Niemann-Pick disease type E 0 trials
  • Chronic neurovisceral acid sphingomyelinase deficiency 0 trials
• Metachromatic leukodystrophy 20 trials
  2 sub-types

  • Metachromatic leukodystrophy, juvenile form 2 trials · 4 incl. sub-types Sub-types →
  • Metachromatic leukodystrophy due to saposin B deficiency 0 trials
• Krabbe disease 15 trials
  3 sub-types

  • Infantile Krabbe disease 2 trials
  • Adult Krabbe disease 0 trials
  • Late-infantile/juvenile Krabbe disease 0 trials
• Mucosulfatidosis 4 trials
• ASAH1-related sphingolipidosis 0 trials · 1 incl. sub-types
  2 sub-types

  • Farber lipogranulomatosis 1 trial
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 trials
• PSAP-related sphingolipidosis 0 trials · 1 incl. sub-types
  4 sub-types

  • Gaucher disease due to saposin C deficiency 1 trial
  • Krabbe disease due to saposin A deficiency 0 trials
  • Combined PSAP deficiency 0 trials
  • Metachromatic leukodystrophy due to saposin B deficiency 0 trials
• Autosomal recessive cerebellar ataxia with late-onset spasticity 0 trials
• Sea-blue histiocyte syndrome 0 trials