SMPD1 Chromosome 11
Sphingomyelin phosphodiesterase 1
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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 |
|---|---|---|---|
| RS875989835 | Health Risk | Pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS875989837 | Health Risk | Pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS886043098 | Health Risk | Pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS943865463 | Health Risk | Pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1057516432 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1057516454 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS1057517195 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS120074119 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS120074121 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS120074124 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS1205990349 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1319643225 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS1342372980 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS1470998208 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1554933746 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1554934212 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1554935136 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1554935669 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1564923612 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1590739350 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS1590743683 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS1847910654 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1847955457 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS199915216 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS201550531 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2134004594 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2134006149 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2134006179 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2134021058 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493805239 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2493805504 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493813438 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2493813577 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493822055 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS267607074 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS281860676 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS398123479 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS727504165 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS727504166 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS747143343 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS750779804 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS751269562 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS752000778 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease |
| RS756366019 | Health Risk | Pathogenic/Likely pathogenic | Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease, type A |
| RS759389193 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS764317969 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS767492080 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS771336819 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS776442314 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS780134410 | Health Risk | Pathogenic/Likely pathogenic | Niemann-Pick disease, type A, type B |