Genopathy
Gene-Disorder Association · Article
Gene
SMPD1
Sphingomyelin Phosphodiesterase 1
Disorder
Lysosomal Storage Disease
First reported 1992
Supporting publications 2
Key publication · gene–disorder Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.The Journal of biological chemistry · 1992
Key publication · disorder Electron microscopy of intestinal suction-biopsy specimens as an aid in the diagnosis of mucopolysaccharidoses and other lysosomal storage diseases.Maandschrift voor kindergeneeskunde · 1971
Manually curated
Association Review

In brief

The association between SMPD1 (Sphingomyelin Phosphodiesterase 1) and Lysosomal Storage Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
SMPD1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Lysosomal Storage Disease

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

4 references

Every source and publication cited across this dossier, as one numbered reference list.

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