Phenotypes associated with the disease BAP1-related tumor predisposition syndrome (OMIM:614327, an entry in Online Mendelian Inheritance in Man):
- Cutaneous melanoma (HP:0012056, a Human Phenotype Ontology term): The presence of a melanoma of the skin. Evidence: PCS. Frequency: 5/23. (PMID:21941004;PMID:21874003)
- Uveal melanoma (HP:0007716, a Human Phenotype Ontology term): A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). Evidence: PCS. Frequency: 4/23. (PMID:21941004;PMID:21874003)
- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 3/8. (PMID:21874003)
- Late onset (HP:0003584, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/8. (PMID:21874003)
- Lung adenocarcinoma (HP:0030078, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/8. (PMID:21941004)
- Renal cell carcinoma (HP:0005584, a Human Phenotype Ontology term): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: IEA. (OMIM:614327)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/8. (PMID:21874003)
- Meningioma (HP:0002858, a Human Phenotype Ontology term): The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. Evidence: PCS. Frequency: 1/8. (PMID:21941004)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:21874003)
- Malignant mesothelioma (HP:0100001, a Human Phenotype Ontology term): Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. Evidence: PCS. Frequency: 1/8. (PMID:21941004)