Genopathy
Gene-Disorder Association · Article
Gene
EIF2AK3
Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3
Disorder
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
First reported 2000
Supporting publications 15
Key publication · gene–disorder EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.Nature genetics · 2000
Key publication · disorder Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia.The Journal of pediatrics · 1972
Manually curated
Association Review

In brief

The association between EIF2AK3 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3) and Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 267
Symptoms 89
Compounds 0
Trials 0
Publications 15
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

5 sources

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

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03
EIF2AK3

The gene

2 source summaries

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

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04
Epiphyseal Dysplasia, Multiple, With Early-Onset 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

70 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

267 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

15 publications

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

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09
Provenance

References & sources

17 references

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

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