KEGG   DISEASE: Niemann-Pick disease type A/B
Entry
H00137                      Disease                                

Name
Niemann-Pick disease type A/B
  Subgroup
Niemann-Pick disease, type A
Niemann-Pick disease, type B
  Supergrp
Defects in the degradation of sphingomyelin [DS:H00424]
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
Description
Niemann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by deficient acid sphingomyelinase (ASM) activity, resulting in accumulation of sphingomyelin and cholesterol in many organs. ASM plays an important role in normal membrane turnover and is one of the key enzymes responsible for the production of ceramide. Type A NPD is the infantile form characterized by a rapidly progressive neurodegenerative course that leads to early death. Type B NPD is the later-onset form in which patients exhibit little or no neurological symptoms, but may have severe and progressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types A and B NPD are likely due to small differences in the amount of residual, functional ASM activity.
Category
Inherited metabolic disease; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00137  Niemann-Pick disease type A/B
  Lysosomal storage diseases
   H00137  Niemann-Pick disease type A/B
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00137  Niemann-Pick disease type A/B
Pathway
hsa00600  Sphingolipid metabolism
hsa04142  Lysosome
Network
nt06014  Sphingolipid degradation
  Element
N00650  SMPD1 deficiency in sphingolipid degradation
Gene
SMPD1; sphingomyelin phosphodiesterase [HSA:6609] [KO:K12350]
Comment
Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B.
Other DBs
ICD-11: 5C56.0Y
ICD-10: E75.2
MeSH: D052536 D052537
OMIM: 257200 607616
Reference
  Authors
Smith EL, Schuchman EH
  Title
The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.
  Journal
FASEB J 22:3419-31 (2008)
DOI:10.1096/fj.08-108043
Reference
  Authors
Heese BA
  Title
Current strategies in the management of lysosomal storage diseases.
  Journal
Semin Pediatr Neurol 15:119-26 (2008)
DOI:10.1016/j.spen.2008.05.005
Reference
  Authors
Schuchman EH
  Title
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
  Journal
J Inherit Metab Dis 30:654-63 (2007)
DOI:10.1007/s10545-007-0632-9
Reference
  Authors
Ridgway ND
  Title
Interactions between metabolism and intracellular distribution of cholesterol and sphingomyelin.
  Journal
Biochim Biophys Acta 1484:129-41 (2000)
DOI:10.1016/S1388-1981(00)00006-8
Reference
  Authors
Schuchman EH
  Title
Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.
  Journal
FEBS Lett 584:1895-900 (2010)
DOI:10.1016/j.febslet.2009.11.083
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