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

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; Niemann-Pick Disease with Cholesterol Esterification Block; Niemann-Pick Disease without Sphingomyelinase Deficiency; Niemann-Pick Disease, Chronic Neuronopathic Form; Niemann-Pick Disease, Nova Scotian; Niemann-Pick Disease, Type C1; Niemann-Pick's Disease Type C; Niemann-Pick's Disease Type D; Nova Scotia (Type D) Form of Niemann-Pick Disease; Nova Scotia Niemann-Pick Disease (Type D); Niemann Pick Disease Type D; Niemann Pick Disease with Cholesterol Esterification Block; Niemann Pick Disease without Sphingomyelinase Deficiency; Niemann Pick Disease, Chronic Neuronopathic Form; Niemann Pick Disease, Nova Scotian; Niemann Pick Disease, Type C1; Niemann Pick's Disease Type C; Niemann Pick's Disease Type D; Nova Scotia Niemann Pick Disease (Type D); Niemann-Pick Disease, Type D
Networked: 264 relevant articles (11 outcomes, 20 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Fabry Disease (Fabry's Disease)
2. Phenylketonurias (Phenylketonuria)
3. Neurologic Manifestations (Neurological Manifestations)
4. Seizures (Seizure)
5. Cystic Fibrosis (Mucoviscidosis)


1. Vanier, Marie T: 14 articles (01/2015 - 04/2004)
2. Platt, Frances M: 8 articles (07/2014 - 08/2004)
3. Patterson, Marc C: 7 articles (01/2015 - 11/2003)
4. Porter, Forbes D: 7 articles (09/2013 - 10/2010)
5. Ohno, Kousaku: 5 articles (09/2015 - 06/2004)
6. Mengel, Eugen: 5 articles (01/2015 - 10/2006)
7. Walkley, Steven U: 5 articles (11/2012 - 09/2005)
8. Vanier, M T: 5 articles (03/2009 - 04/2000)
9. Ninomiya, Haruaki: 5 articles (01/2009 - 06/2004)
10. Walterfang, Mark: 4 articles (09/2015 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type C Niemann-Pick Disease:
1. miglustat (Zavesca)FDA Link
2. Dimethyl Sulfoxide (DMSO)FDA LinkGeneric
3. CholesterolIBA
4. Biological Markers (Surrogate Marker)IBA
5. Mutant Proteins (Protein, Mutant)IBA
6. LigandsIBA
7. Ibuprofen (Motrin)FDA LinkGeneric
8. CurcuminIBA
9. Acetylcysteine (Siran)FDA LinkGeneric
10. Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA

Therapies and Procedures

1. Therapeutics
2. Oral Administration
3. Transplantation (Transplant Recipients)
4. Lasers (Laser)
5. Enzyme Replacement Therapy