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 |
|---|---|---|---|
| RS1021086003 | Health Risk | Likely pathogenic | — |
| RS1047531932 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1057435197 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, Niemann-Pick disease |
| RS1057516722 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1057516854 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1057516931 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1057517086 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1057517200 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1057517345 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1057517390 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1057517826 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1064795484 | Health Risk | Likely pathogenic | — |
| RS1162794351 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, Niemann-Pick disease |
| RS120074117 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS120074123 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, Sphingomyelin/cholesterol lipidosis |
| RS1225462507 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1242180535 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1258231226 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1301641750 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS1312743513 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1327201504 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS1352986086 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1356136873 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS1369175943 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1402734026 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS140688153 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS1423504237 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554934109 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS1554934210 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554934309 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554934406 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554935254 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554935273 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554935285 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554935439 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554935555 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554935600 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1554935610 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1590735307 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, SMPD1-related disorder |
| RS1690892137 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS182812968 | Health Risk | Likely pathogenic | Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease, type A |
| RS1847878243 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1847921260 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1847923379 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1847929817 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1847939431 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1847944661 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS1847955378 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1848014133 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1848060631 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |