Genopathy
Gene-Disorder Association · Article
Gene
DSE
Dermatan Sulfate Epimerase
Disorder
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
First reported 2004
Supporting publications 2
Key publication · disorder Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.Proceedings of the National Academy of Sciences of the United States of America · 2004
Manually curated
Association Review

In brief

The association between DSE (Dermatan Sulfate Epimerase) and Sudden Infant Death With Dysgenesis Of The Testes Syndrome is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 8
Symptoms 61
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
DSE

The gene

1 source summary

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

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04
Sudden Infant Death With Dysgenesis Of The Testes Syndrome

The disorder

7 database identifiers

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

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05
Phenotype

Clinical features

31 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

8 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

2 publications

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

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09
Provenance

References & sources

9 references

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

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