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 |
|---|---|---|---|
| RS2493822223 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493823426 | Health Risk | Likely pathogenic | Sphingomyelin/cholesterol lipidosis, Sphingomyelin/cholesterol lipidosis |
| RS2493823444 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493823558 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493823785 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS281860666 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS281860668 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS281860669 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS34555120 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS373940701 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS750433951 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS754979734 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS756031857 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS757934797 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS759950370 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS760865854 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS760930408 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS763099671 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS766945871 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS769904764 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS772889728 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS774309925 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS779080655 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS779528546 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS797044799 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS797044800 | Health Risk | Likely pathogenic | Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease, type B |
| RS943924098 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS989639224 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1018556947 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1057516403 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1057516949 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1057517098 | Health Risk | Pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS120074120 | Health Risk | Pathogenic | Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis |
| RS120074122 | Health Risk | Pathogenic | Niemann-Pick disease, type B, Sphingomyelin/cholesterol lipidosis |
| RS120074125 | Health Risk | Pathogenic | Niemann-pick disease, intermediate, protracted neurovisceral |
| RS120074126 | Health Risk | Pathogenic | Niemann-Pick disease, type B, Sphingomyelin/cholesterol lipidosis |
| RS120074127 | Health Risk | Pathogenic | Niemann-Pick disease, type B, type A |
| RS120074128 | Health Risk | Pathogenic | Niemann-Pick disease, type B, Niemann-pick disease |
| RS1398380898 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1422720020 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1428487333 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1437508852 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1554933751 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1554933780 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1554934193 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1554934241 | Health Risk | Pathogenic | — |
| RS1554935746 | Health Risk | Pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS1564927308 | Health Risk | Pathogenic | — |
| RS1590735238 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |
| RS1590738506 | Health Risk | Pathogenic | Niemann-Pick disease, type A, type B |