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
RS35122256 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS369088417 Health Risk Conflicting classifications of pathogenicity Sphingomyelin/cholesterol lipidosis, Lysosomal storage disease, Niemann-Pick disease
RS369787650 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS370048730 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS371837210 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS372287825 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS373742012 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS374458858 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS374604948 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS375915127 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS3838786 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS398123475 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS528939343 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS538875655 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS552841217 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS555187617 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS556155962 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS559088058 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS560531338 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS575601110 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS747223735 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, Inborn genetic diseases
RS748589919 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS748793138 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS749780769 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS750187574 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS752679988 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS753508874 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS755182589 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS757850587 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS760203204 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS761308217 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS763521056 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS763566905 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, Sphingomyelin/cholesterol lipidosis
RS764772735 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS766418804 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS767722360 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS769209179 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS769400504 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS772473982 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS775473869 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS778746534 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS779927660 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS794727705 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS797044798 Health Risk Conflicting classifications of pathogenicity Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease, type A
RS886043870 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS886048444 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS886048447 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A, type B
RS889113421 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS947385324 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
RS958654789 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B, type A
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