An extremely rare metabolic disorder characterised clinically by skin discolouration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. There is evidence that the disease is caused by heterozygous mutation in the BCMO1 gene on chromosome 16q23.
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No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3447963011
Hereditary hypercarotenemia and vitamin A deficiency
Active
Synonym
false
false
3447964017
Hereditary hypercarotenaemia and vitamin A deficiency