- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: TAS. (OMIM:144200)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: TAS. (OMIM:144200)
- Plantar hyperkeratosis (HP:0007556): Hyperkeratosis affecting the sole of the foot. Evidence: TAS. (OMIM:144200)
- Autosomal dominant inheritance (HP:0000006): 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:12192490)
- Localized epidermolytic hyperkeratosis (HP:0007559). Evidence: PCS. (PMID:12192490)
- Palmar hyperkeratosis (HP:0010765): Abnormal thickening of the skin localized to the palm of the hand. Evidence: TAS. (OMIM:144200)
These phenotypes are associated with the disease epidermolytic palmoplantar keratoderma, 1 (OMIM:144200).