Genopathy
Gene-Disorder Association · Article
Gene
HJV
Hemojuvelin BMP Co-Receptor
Disorder
Hemochromatosis Type 2
First reported 2004
Supporting publications 30
Key publication · gene–disorder Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.Nature genetics · 2004
Key publication · disorder [Juvenile hemochromatosis in three sisters and one brother associated with consanguinity of the parents; anatomo-clinical and genetic study of the endocrino-hepato-myocardial syndrome].Journal de genetique humaine · 1952
Manually curated
Association Review

In brief

The association between HJV (Hemojuvelin BMP Co-Receptor) and Hemochromatosis Type 2 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 4
Symptoms 8
Compounds 0
Trials 0
Publications 30
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
HJV

The gene

1 source summary

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

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04
Hemochromatosis Type 2

The disorder

7 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

4 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

30 publications

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

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07
Provenance

References & sources

12 references

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

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