Genopathy
Gene-Disorder Association · Article
Gene
HP
Haptoglobin
Disorder
Anhaptoglobinemia
First reported 2004
Key publication · gene–disorder A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia.Human genetics · 2004
Key publication · disorder Familial hypohaptoglobinemia. A genetically determined trait segragating from glucose-6-phosphate dehydrogenase deficiency.Blood · 1963
Manually curated
Association Review

In brief

The association between HP (Haptoglobin) and Anhaptoglobinemia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.

Sources 3
Clinical variants 4
Symptoms 0
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

3 sources

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

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03
HP

The gene

1 source summary

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

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04
Anhaptoglobinemia

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
Provenance

References & sources

5 references

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

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