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
RS1590738910 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS1847857299 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1847863441 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS1847871015 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1847871996 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1847910379 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1847921591 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS1847921909 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1847925196 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS1847935299 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1847944988 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS1847952502 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1848015403 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1848019149 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1848042860 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1848043657 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1848061158 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS1848063769 Health Risk Pathogenic —
RS1848086376 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS1848086912 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS1848088118 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS200763423 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2134004628 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2134006350 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2134006592 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS2134006884 Health Risk Pathogenic —
RS2134009391 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2134009550 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS2134010245 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2134010914 Health Risk Pathogenic Niemann-Pick disease, type B, Sphingomyelin/cholesterol lipidosis
RS2134011809 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2134012543 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS2134013121 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2134013240 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS2134013368 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2134017306 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS2134017443 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2134017711 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2134023240 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2134023663 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493796691 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493798730 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493799100 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493800050 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493800618 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493800963 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493803501 Health Risk Pathogenic Niemann-Pick disease, type A, type B
RS2493805665 Health Risk Pathogenic Niemann-Pick disease, type B, type A
RS2493806255 Health Risk Pathogenic Niemann-Pick disease, type A, Niemann-Pick disease
RS2493806280 Health Risk Pathogenic Niemann-Pick disease, type A, type B
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