- Pleuropulmonary blastoma (HP:0100528): A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. Evidence: PCS. Frequency: 11/14. Onset: Childhood onset (HP:0011463). (PMID:21266384)
- Rhabdomyosarcoma (HP:0002859). Evidence: PCS. (PMID:19556464)
- 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. Frequency: 20/20. (OMIM:601200;PMID:19556464)
- Medulloblastoma (HP:0002885): A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. Evidence: TAS. Frequency: 1/86. (PMID:21266384)
These phenotypes are associated with the disease pleuropulmonary blastoma (OMIM:601200).