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Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) Summary

Description: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.

Also Known As: Niemann Pick Disease, Type C; Niemann Pick Disease, Type D; Niemann-Pick Disease, Type C; Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia; Niemann-Pick Disease Type D Show All >>

Networked: 264 relevant articles (11 outcomes, 20 trials/studies) for this Disease

Key Drugs and Agents for Type C Niemann-Pick Disease

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. miglustat (Zavesca) : 5 outcomes 6 studies in 33 results : FDA 1
  2. Dimethyl Sulfoxide (DMSO) : 2 outcomes in 4 results : FDA 3 Generic
  3. Cholesterol : 1 outcome 5 studies in 132 results : IBA
  4. Biological Markers (Surrogate Marker) : 1 outcome 1 study in 5 results : IBA
  5. Mutant Proteins (Protein, Mutant) : 1 outcome in 1 result : IBA
  6. Ligands : 1 outcome in 1 result : IBA
  7. Ibuprofen (Motrin) : 1 outcome in 1 result : FDA 197 Generic
  8. Curcumin : 1 outcome in 1 result : IBA
  9. Acetylcysteine (Siran) : 1 outcome in 1 result : FDA 17 Generic
  10. Sphingomyelin Phosphodiesterase (Sphingomyelinase) : 3 studies in 22 results : IBA
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Diseases Related to Type C Niemann-Pick Disease

  1. Fabry Disease (Fabry's Disease)
  2. Phenylketonurias (Phenylketonuria)
  3. Neurologic Manifestations (Neurological Manifestations)
  4. Seizures (Seizure)
  5. Cystic Fibrosis (Mucoviscidosis)
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Key Therapies for Type C Niemann-Pick Disease

Efficacy Chart >>
  1. Therapeutics : 1 outcome in 1 result
  2. Oral Administration : 1 outcome in 1 result
  3. Transplantation (Transplant Recipients) : 2 results
  4. Lasers (Laser) : 2 results
  5. Enzyme Replacement Therapy : 1 result
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