Genopathy
Gene-Disorder Association · Article
Gene
SMPD1
Sphingomyelin Phosphodiesterase 1
Disorder
Niemann-Pick Disease
First reported 1991
Supporting publications 124
Key publication · gene–disorder Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4.Genomics · 1991
Key publication · disorder Familial idiocy due to neuronal lipidosis (so-called late amaurotic idiocy).The American journal of psychiatry · 1950
Manually curatedApproved treatment annotated
Association Review

In brief

The association between SMPD1 (Sphingomyelin Phosphodiesterase 1) and Niemann-Pick Disease is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 117
Symptoms 3
Compounds 1
Trials 7
Publications 124
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
Niemann-Pick Disease

The disorder

8 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

117 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Interventions

Therapeutics

1 compound or drug

Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.

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07
Human studies

Clinical trials

7 clinical trials

Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.

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08
Literature

Reading

124 publications

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

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09
Provenance

References & sources

13 references

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

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