KEGG   NETWORK: N00650
Entry
N00650                      Network                                

Name
SMPD1 deficiency in sphingolipid degradation
Definition
Sphingomyelin -- SMPD1*
  Expanded
C00550 -- 6609v1
Class
nt06014 Sphingolipid degradation
Type
Variant
Disease
H00423  Sphingolipidosis
H00137  Niemann-Pick disease type A/B
Gene
6609  SMPD1; sphingomyelin phosphodiesterase 1
Variant
6609v1 (SMPD1*)  SMPD1 deficiency
Metabolite
C00550  Sphingomyelin
Reference
PMID:2023926
  Authors
Levran O, Desnick RJ, Schuchman EH
  Title
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.
  Journal
Proc Natl Acad Sci U S A 88:3748-52 (1991)
DOI:10.1073/pnas.88.9.3748
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