BCO1 gene related symptoms and diseases

All the information presented here about the BCO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BCO1 gene

Symptoms // Phenotype % Cases
Abnormality of the skin Very Common - Between 80% and 100% cases
Vitamin A deficiency Very Common - Between 80% and 100% cases

Rare diseases associated to BCO1 gene

Here you will find a list of rare diseases related to the BCO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY


Description

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.

Most common symptoms of HEREDITARY HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY

  • Abnormality of the skin
  • Vitamin A deficiency


More info about HEREDITARY HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for BCO1 gene

Hypercarotenemia and vitamin A deficiency (BCO1) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the BCO1 gene.

More info about this panel

BCO1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BCO1 gene.

More info about this panel


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