Phenotypes associated with the disease amyloidosis, primary localized cutaneous, 2 (OMIM:613955):
- Cutaneous amyloidosis (HP:0012309): The presence of amyloid deposition in the superficial dermis. Evidence: TAS. (OMIM:613955)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. (OMIM:613955)
- 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: TAS. (OMIM:613955)