Genopathy
Gene-Disorder Association · Article
Gene
ATP2B4
ATPase Plasma Membrane Ca2+ Transporting 4
Disorder
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
First reported 2002
Key publication · disorder Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.Archives of neurology · 2002
Manually curated
Association Review

In brief

The association between ATP2B4 (ATPase Plasma Membrane Ca2+ Transporting 4) and Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 34
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
ATP2B4

The gene

1 source summary

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

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04
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

The disorder

14 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

22 clinical features

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

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06
Provenance

References & sources

6 references

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

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