Genopathy
Gene-Disorder Association · Article
Gene
ST3GAL5
ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5
Disorder
Salt And Pepper Syndrome
First reported 2014
Supporting publications 17
Key publication · gene–disorder A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.Human molecular genetics · 2014
Key publication · disorder Statistical features of human exons and their flanking regions.Human molecular genetics · 1998
Manually curated
Association Review

In brief

The association between ST3GAL5 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5) and Salt And Pepper Syndrome is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 443
Symptoms 0
Compounds 0
Trials 0
Publications 17
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
ST3GAL5

The gene

1 source summary

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

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04
Salt And Pepper Syndrome

The disorder

2 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

443 clinical variants

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

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06
Literature

Reading

17 publications

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

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07
Provenance

References & sources

10 references

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

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