Phenotypes associated with the disease hereditary hypercarotenemia and vitamin A deficiency (OMIM:115300, an entry in Online Mendelian Inheritance in Man):
- Increased circulating beta-carotene concentration (HP:0430074, a Human Phenotype Ontology term): The concentration of beta-carotene in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:17951468)
- Reduced circulating vitamin A concentration (HP:0004905, a Human Phenotype Ontology term): Concentration of vitamin A below the lower limit of normal in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:17951468)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:17951468)
- Abnormality of the skin (HP:0000951, a Human Phenotype Ontology term): An abnormality of the skin. Evidence: IEA. (OMIM:115300)