Genopathy
Gene-Disorder Association · Article
Gene
ABCA1
ATP Binding Cassette Subfamily A Member 1
Disorder
Tangier Disease
First reported 1999
Supporting publications 99
Key publication · gene–disorder Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.Nature genetics · 1999
Key publication · disorder [Modifications of arterial wall and adrenal histochemistry and of plasma electrophoresis during prolonged treatment with adrenocorticotropic hormone, compared with the picture of cholesterol thesaurismosis].Archivio "de Vecchi" per l'anatomia patologica e la medicina clinica · 1956
Manually curated
Association Review

In brief

The association between ABCA1 (ATP Binding Cassette Subfamily A Member 1) and Tangier Disease 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 299
Symptoms 58
Compounds 0
Trials 0
Publications 99
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
ABCA1

The gene

1 source summary

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

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04
Tangier Disease

The disorder

14 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

38 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

299 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

2 shared pathways

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

99 publications

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

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09
Provenance

References & sources

20 references

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

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