Genopathy
Gene-Disorder Association · Article
Gene
BCO1
Beta-Carotene Oxygenase 1
Disorder
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
First reported 1970
Key publication · gene–disorder Familial hypercarotinaemia and hypovitaminosis A.Proceedings of the Royal Society of Medicine · 1970
Key publication · disorder Effects of a transient vitamin A deficiency on subsequent resistance to cold.Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.) · 1950
Manually curatedApproved treatment annotated
Association Review

In brief

The association between BCO1 (Beta-Carotene Oxygenase 1) and Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.

Sources 2
Clinical variants 4
Symptoms 7
Compounds 1
Trials 1of 20 via BCO1 compounds
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

2 sources

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

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03
BCO1

The gene

1 source summary

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

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04
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant

The disorder

15 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

3 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

4 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
Interventions

Therapeutics

1 compound or drug

Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.

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09
Human studies

Clinical trials

20 clinical trials

Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.

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10
Provenance

References & sources

7 references

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

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