Genopathy
Gene-Disorder Association · Article
Gene
SH3TC2
SH3 Domain And Tetratricopeptide Repeats 2
Disorder
Adult Onset Demyelinating Leukodystrophy
First reported 1994
Key publication · disorder Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.Archives of neurology · 1994
Manually curated
Association Review

In brief

The association between SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2) and Adult Onset Demyelinating Leukodystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 5
Compounds 0
Trials 0
Publications 0
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
SH3TC2

The gene

1 source summary

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

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04
Adult Onset Demyelinating Leukodystrophy

The disorder

4 database identifiers

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

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05
Provenance

References & sources

3 references

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

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