Genopathy
Gene-Disorder Association · Article
Gene
ASIC5
Acid Sensing Ion Channel Subunit Family Member 5
Disorder
Deafness, Dystonia, And Cerebral Hypomyelination
First reported 1983
Key publication · disorder [Encephalopathy related to X fragility: neither inactivation nor deletion of the distal fragment q28 to qter. Enzymatic and morphometric evidence].Journal de genetique humaine · 1983
Manually curated
Association Review

In brief

The association between ASIC5 (Acid Sensing Ion Channel Subunit Family Member 5) and Deafness, Dystonia, And Cerebral Hypomyelination is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 37
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
ASIC5

The gene

1 source summary

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

Request access
04
Deafness, Dystonia, And Cerebral Hypomyelination

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

26 clinical features

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

Request access
06
Provenance

References & sources

7 references

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

Request access