KEGG   DISEASE: Niemann-Pick disease type C
Entry
H00136                      Disease                                

Name
Niemann-Pick disease type C
  Subgroup
Niemann-Pick disease type C1
Niemann-Pick disease type C2
  Supergrp
Defects in lysosomal trafficking [DS:H02128]
Lysosomal storage disease [DS:H01425]
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 disease; Nervous system disease; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Lysosomal storage diseases
   H00136  Niemann-Pick disease type C
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00136  Niemann-Pick disease type C
Pathway
hsa04142  Lysosome
Gene
(NPC1/ D) NPC1 [HSA:4864] [KO:K12385]
(NPC2) NPC2 [HSA:10577] [KO:K13443]
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
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
PMID:17689147 (drug)
  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
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