Phenotypes associated with the disease hereditary leiomyomatosis and renal cell cancer (OMIM:150800):
- Uterine leiomyoma (HP:0000131): The presence of a leiomyoma of the uterus. Evidence: PCS. Frequency: 22/22. (PMID:15937070)
- Uterine leiomyosarcoma (HP:0002891): The presence of a leiomyosarcoma of the uterus. Evidence: IEA. (OMIM:150800)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: PCS. Frequency: 20/46. (PMID:15937070)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: TAS. (OMIM:150800)
- Cutaneous leiomyoma (HP:0007620): The presence of leiomyoma of the skin. Evidence: IEA. (OMIM:150800)
- Decreased fumarate hydratase activity (HP:0003536): An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. Evidence: IEA. (OMIM:150800)
- 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:15937070)
- Multiple cutaneous leiomyomas (HP:0007437): The presence of multiple leiomyomas of the skin. Evidence: PCS. Frequency: 16/21. (PMID:15937070)
- Cutaneous leiomyosarcoma (HP:0006755): The presence of leiomyosarcoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:150800)