| H00136 | |
| H number | H00136 |
| Name | Niemann-Pick disease type C |
| Description | Niemann-Pick disease type C is an autosomal recessive lysosomal lipid storage disorder caused by a defect of NPC1 or NPC2 involved in cholesterol trafficking. The disease is characterized by neurodegeneration starting from early life. While NPC1 is a lysosomal transmembrane protein involved in shuttling of substrates to the Golgi and possibly elsewhere in cells, NPC2 is a soluble lysosomal protein known to bind cholesterol. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | (NPC1/ D) NPC1 [HSA:4864] [KO:K12385] (NPC2) NPC2 [HSA:10577] [KO:K13443] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Niemann-Pick disease, type D is now thought to be a variant of type C. TypeD has only been found in the French Canadian population of Yarmouth County, Nova Scotia. |
| Other DBs | ICD-11: 5C56.0Y ICD-10: E75.2 MeSH: D052556 OMIM: 257220 607625 |
| Reference | PMID:18782459 AUTHORS Pacheco CD, Lieberman AP TITLE The pathogenesis of Niemann-Pick type C disease: a role for autophagy? JOURNAL Expert Rev Mol Med 10:e26 (2008) DOI:10.1017/S146239940800080X PMID:16797010 AUTHORS Vance JE TITLE Lipid imbalance in the neurological disorder, Niemann-Pick C disease. JOURNAL FEBS Lett 580:5518-24 (2006) DOI:10.1016/j.febslet.2006.06.008 PMID:15207834 AUTHORS Ikonen E, Holtta-Vuori M TITLE Cellular pathology of Niemann-Pick type C disease. JOURNAL Semin Cell Dev Biol 15:445-54 (2004) DOI:10.1016/j.semcdb.2004.03.001 PMID:15465424 AUTHORS Mukherjee S, Maxfield FR TITLE Lipid and cholesterol trafficking in NPC. JOURNAL Biochim Biophys Acta 1685:28-37 (2004) DOI:10.1016/j.bbalip.2004.08.009 PMID:15465426 AUTHORS Walkley SU, Suzuki K TITLE Consequences of NPC1 and NPC2 loss of function in mammalian neurons. JOURNAL Biochim Biophys Acta 1685:48-62 (2004) DOI:10.1016/j.bbalip.2004.08.011 PMID:17689147 AUTHORS Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE TITLE Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. JOURNAL Lancet Neurol 6:765-72 (2007) DOI:10.1016/S1474-4422(07)70194-1 |