Genopathy
Gene-Disorder Association · Article
Gene
HACE1
HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1
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 HACE1 (HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1) 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
HACE1

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
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

6 references

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

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