Genopathy
Gene-Disorder Association · Article
Gene
DNAJC3
DnaJ Heat Shock Protein Family (Hsp40) Member C3
Disorder
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
First reported 2014
Supporting publications 5
Key publication · gene–disorder Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.American journal of human genetics · 2014
Key publication · disorder Progress in free tissue transfer.World journal of surgery · 1990
Manually curated
Association Review

In brief

The association between DNAJC3 (DnaJ Heat Shock Protein Family (Hsp40) Member C3) and Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 11
Symptoms 33
Compounds 0
Trials 0
Publications 5
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

4 sources

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

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03
DNAJC3

The gene

1 source summary

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

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04
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus

The disorder

11 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

23 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

11 clinical variants

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

5 publications

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

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09
Provenance

References & sources

12 references

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

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