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hereditary hypercarotenemia and vitamin A deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary hypercarotenemia and vitamin A deficiency

MONDO:0007272

Also known as:Carotenoids, plasma level of, quantitative trait locus 1HCVADhypercarotenemia and vitamin A deficiency, autosomal dominant

Overview

Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.

GeneticsAutosomal dominant · BCO1 (chr 16)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased circulating beta-carotene concentration and Reduced circulating vitamin A concentration. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	1	Increased circulating beta-carotene concentration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

BCO1 encodes beta-carotene oxygenase 1 (547 aa). Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism Highest expression in Small Intestine Terminal Ileum (2.5 TPM) and Kidney Medulla (1.7 TPM).

Hereditary hypercarotenemia and vitamin A deficiency is associated with mutations in the BCO1 gene on chromosome 16.

The BCO1 protein participates in Signaling by Retinoic Acid pathway.

BCO1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for BCO1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:115300

Orphanet

European rare disease database

Orphanet:199285

GARD

Genetic and Rare Diseases Info Center

GARD:17090

Questions for Your Care Team

→Should I pursue genetic testing for BCO1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hereditary hypercarotenemia and vitamin A deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

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Questions for Your Care Team

Questions for Your Care Team

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