Genopathy
Gene-Disorder Association · Article
Gene
DNAJC5
DnaJ Heat Shock Protein Family (Hsp40) Member C5
Disorder
Neuronal Ceroid Lipofuscinosis
First reported 2011
Supporting publications 5
Key publication · gene–disorder Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.American journal of human genetics · 2011
Key publication · disorder Familial idiocy due to neuronal lipidosis (so-called late amaurotic idiocy).The American journal of psychiatry · 1950
Manually curated
Association Review

In brief

The association between DNAJC5 (DnaJ Heat Shock Protein Family (Hsp40) Member C5) and Neuronal Ceroid Lipofuscinosis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 206
Symptoms 4
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

2 sources

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

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03
DNAJC5

The gene

1 source summary

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

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04
Neuronal Ceroid Lipofuscinosis

The disorder

10 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

206 clinical variants

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

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06
Literature

Reading

5 publications

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

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07
Provenance

References & sources

10 references

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

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