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 |
|---|---|---|---|
| RS1848060729 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1848064978 | Health Risk | Likely pathogenic | Sphingomyelin/cholesterol lipidosis, Sphingomyelin/cholesterol lipidosis |
| RS1848099174 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS1848099900 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS201127799 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2134009384 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2134010621 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2134011288 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2134011919 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2134012389 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2134012580 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2134012749 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2134017039 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2134018090 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2134019797 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2134021440 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2134021618 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2134022652 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2134023610 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2134024349 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, Sphingomyelin/cholesterol lipidosis |
| RS2493798336 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2493798396 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493799201 | Health Risk | Likely pathogenic | Sphingomyelin/cholesterol lipidosis, Sphingomyelin/cholesterol lipidosis |
| RS2493799615 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493800007 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493800139 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493800895 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493803771 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493804047 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493804110 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493804143 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493804165 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493804168 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493804273 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493805222 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493805405 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2493805420 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2493805738 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493806137 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493806373 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493807198 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493807719 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493807887 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493813892 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493816636 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493817489 | Health Risk | Likely pathogenic | Niemann-Pick disease, type B, type A |
| RS2493819793 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, type B |
| RS2493820319 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493820709 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |
| RS2493820717 | Health Risk | Likely pathogenic | Niemann-Pick disease, type A, Niemann-Pick disease |