Genopathy
Gene-Disorder Association · Article
Gene
AP4B1
Adaptor Related Protein Complex 4 Subunit Beta 1
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 AP4B1 (Adaptor Related Protein Complex 4 Subunit Beta 1) 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.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
AP4B1

The gene

1 source summary

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

Request access
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).

Request access
05
Provenance

References & sources

3 references

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

Request access