Phenotypes associated with the disease melanoma-pancreatic cancer syndrome (OMIM:606719):
- Melanoma (HP:0002861): The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). Evidence: IEA. (OMIM:606719)
- Pancreatic adenocarcinoma (HP:0006725): The presence of an adenocarcinoma of the pancreas. Evidence: TAS. (OMIM:606719)
- Squamous cell carcinoma (HP:0002860): The presence of squamous cell carcinoma of the skin. Evidence: IEA. (OMIM:606719)
- Pancreatic squamous cell carcinoma (HP:0012142): A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. Evidence: TAS. (OMIM:606719)
- Oropharyngeal squamous cell carcinoma (HP:0012182): A squamous cell carcinoma that originates in the oropharnyx. Evidence: TAS. (OMIM:606719)
- 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: IEA. (OMIM:606719)
- Sarcoma (HP:0100242): A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. Evidence: TAS. (OMIM:606719)