Genopathy
Gene-Disorder Association · Article
Gene
SHANK3
SH3 And Multiple Ankyrin Repeat Domains 3
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 SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3) 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
SHANK3

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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