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
Search interest in BCO1
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 Netherlands.
BCO1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BCO1 gene.
More info about this panel United States.
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