SMPD1 Chromosome 11

Sphingomyelin phosphodiesterase 1
406 variants 406 Health Risk

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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
RS1181161932 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS1206562843 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1228068212 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis
RS1312090680 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS139882665 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS140202512 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS140221837 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS140269316 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS140770832 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS141387770 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS142787001 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS143612450 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS143939609 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS144428799 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, Inborn genetic diseases
RS144465428 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1446986999 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS144873307 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS1464825418 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS146630228 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS147258619 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS148067213 Health Risk Conflicting classifications of pathogenicity Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease, type B
RS148370501 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS148944108 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS149476159 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis
RS149770879 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS149939736 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1554933800 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1554933929 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1564928040 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS1590747902 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1803161 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1847925080 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS1847932355 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1847934777 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1847940504 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS1848061944 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS1848079553 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS199836262 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS200443318 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS200652683 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS200763765 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS201134693 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS201367689 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS201647015 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS201659696 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS202032347 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS202081954 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS202206564 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS202244080 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS2134024060 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
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