Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
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.
Genes related to Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
- BCO1
Clinical Features
Phenotypes and symptoms related to Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
- Abnormality of the skin
- Vitamin A deficiency
Incidence and onset information
— Not enough data available about incidence and published cases.
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Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
|
Hypercarotenemia and vitamin A deficiency (BCO1).
By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.
BCO1
Specificity
100 %
Genes
100 % |
|
BCO1.
By Fulgent Genetics Fulgent Genetics in United States.
BCO1
Specificity
100 %
Genes
100 % |
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