Phenotypes associated with the disease Muir-Torre syndrome (OMIM:158320):
- Malignant genitourinary tract tumor (HP:0006758): The presence of a malignant neoplasm of the genital system. Evidence: IEA. (OMIM:158320)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: IEA. (OMIM:158320)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 3/3. (PMID:14994245)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 2/3. (PMID:14994245)
- Sebaceous gland carcinoma (HP:0030410): A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance). Evidence: PCS. Frequency: 3/3. (PMID:14994245)
- Colonic diverticula (HP:0002253): The presence of multiple diverticula of the colon. Evidence: IEA. (OMIM:158320)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: IEA. (OMIM:158320)
- Benign gastrointestinal tract tumors (HP:0006719). Evidence: IEA. (OMIM:158320)
- Laryngeal carcinoma (HP:0012118): A carcinoma of the larynx. Evidence: TAS. (OMIM:158320)
- Ovarian neoplasm (HP:0100615): A tumor (abnormal growth of tissue) of the ovary. Evidence: PCS. Frequency: 1/1. (PMID:14994245)
- Duodenal adenocarcinoma (HP:0006771): A malignant epithelial tumor with a glandular organization that originates in the duodenum. Evidence: IEA. (OMIM:158320)
- Adenoma sebaceum (HP:0009720): The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. Evidence: TAS. (OMIM:158320)
- 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:14994245)
- Benign genitourinary tract neoplasm (HP:0006778): A non-malignant neoplasm of the genitourinary system. Evidence: IEA. (OMIM:158320)