SMPD1 Chromosome 11
Sphingomyelin phosphodiesterase 1
Upload your DNA to see your personal genotypes for variants in SMPD1.
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 |
|---|---|---|---|
| RS781535659 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS786204733 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS794727629 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS797044797 | Health Risk | Pathogenic/Likely pathogenic | Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease, type B |
| RS868423827 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS875989836 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |