Phenotypes associated with the disease familial pancreatic carcinoma (OMIM:260350):
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: IEA. (OMIM:260350)
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: TAS. (OMIM:260350)
- Increased level of L-fucose in urine (HP:0410067): An increase in the level of L-fucose in the urine. Evidence: PCS. (PMID:2311216)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: TAS. (OMIM:260350)
- 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:260350)