KEGG   VARIANT: 6609v1
Entry
6609v1                      Variant                                
Name
SMPD1 deficiency
Gene
SMPD1  sphingomyelin phosphodiesterase 1 [KO:K12350]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607608
Network
nt06014  Sphingolipid degradation
Disease
H00137  Niemann-Pick disease type A/B
Drug target
Olipudase alfa: D10820<JP/US>
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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