SMPD1 Chromosome 11

Sphingomyelin phosphodiesterase 1
406 variants 406 Health Risk

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What This Gene Does
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
Associated Conditions (19)
Niemann-Pick disease
type A
type B
Sphingomyelin/cholesterol lipidosis
Inborn genetic diseases
SMPD1-related disorder
Gaucher disease
Intellectual disability
Lysosomal storage disease
Abnormality of metabolism/homeostasis
Niemann-pick disease
intermediate
protracted neurovisceral
Acid sphingomyelinase deficiency
See cases
type C1
Ceroid lipofuscinosis
neuronal
6A
Key Variants
RS1181161932
Conflicting classifications of pathogenicity
Niemann-Pick disease, type A, type B
Health Risk
RS1206562843
Conflicting classifications of pathogenicity
Niemann-Pick disease, type B, type A
Health Risk
RS1228068212
Conflicting classifications of pathogenicity
Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis
Health Risk
RS1312090680
Conflicting classifications of pathogenicity
Niemann-Pick disease, type A, type B
Health Risk
RS139882665
Conflicting classifications of pathogenicity
Niemann-Pick disease, type A, type B
Health Risk
RS140202512
Conflicting classifications of pathogenicity
Niemann-Pick disease, type B, type A
Health Risk
RS140221837
Conflicting classifications of pathogenicity
Niemann-Pick disease, type A, type B
Health Risk
RS140269316
Conflicting classifications of pathogenicity
Niemann-Pick disease, type B, type A
Health Risk
RS140770832
Conflicting classifications of pathogenicity
Niemann-Pick disease, type B, type A
Health Risk
RS141387770
Conflicting classifications of pathogenicity
Niemann-Pick disease, type A, type B
Health Risk
RS142787001
Conflicting classifications of pathogenicity
Niemann-Pick disease, type A, type B
Health Risk
RS143612450
Conflicting classifications of pathogenicity
Niemann-Pick disease, type A, type B
Health Risk
All Variants (406)
RSID Category Clinical Significance Conditions
RS2493806489 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493806753 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493806963 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493807497 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493807508 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493808218 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493813796 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493814068 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493814313 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493814324 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493816545 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493816928 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493817033 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493817085 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493819657 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493819725 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493820064 Health Risk Pathogenic Niemann-Pick disease, type A, Acid sphingomyelinase deficiency
RS2493820770 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493821808 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493822373 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493822633 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS2493823963 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493824186 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS267607073 Health Risk Pathogenic Niemann-Pick disease, type B, Niemann-Pick disease
RS267607075 Health Risk Pathogenic Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis
RS281860663 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS281860665 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS281860677 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS370129081 Health Risk Pathogenic Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis
RS387906289 Health Risk Pathogenic Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis
RS398123474 Health Risk Pathogenic Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis
RS398123476 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS398123478 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS587779408 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal, 6A
RS727504167 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS748165078 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS748411156 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS750157176 Health Risk Pathogenic Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis
RS752148586 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS755160837 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS756192072 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS770561559 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS770962157 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS786204506 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS786204514 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS786204694 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS794727252 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS875989832 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS875989833 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS875989834 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
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