Genopathy
Gene-Disorder Association · Article
Gene
PSMC3
Proteasome 26S Subunit, ATPase 3
Disorder
Deafness, Cataract, Impaired Intellectual Development, And Polyneuropathy
First reported 2020
Supporting publications 1
Key publication · disorder Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.EMBO molecular medicine · 2020
Manually curated
Association Review

In brief

The association between PSMC3 (Proteasome 26S Subunit, ATPase 3) and Deafness, Cataract, Impaired Intellectual Development, And Polyneuropathy is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 1
Symptoms 28
Compounds 0
Trials 0
Publications 1
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

3 sources

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

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03
PSMC3

The gene

1 source summary

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

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04
Deafness, Cataract, Impaired Intellectual Development, And Polyneuropathy

The disorder

5 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

14 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

6 references

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

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