Genopathy
Gene-Disorder Association · Article
Gene
ENPP1
Ectonucleotide Pyrophosphatase/Phosphodiesterase 1
Disorder
Hemochromatosis Type 2
First reported 1952
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 ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1) and Hemochromatosis Type 2 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 8
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
ENPP1

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
Provenance

References & sources

3 references

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

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