Phenotypes associated with the disease choroid plexus papilloma (OMIM:260500):
- Intermediate young adult onset (HP:0025709): Onset of disease at an age of greater than or equal to 19 to under 25 years. Evidence: PCS. Frequency: 1/1. (PMID:12085209)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. (OMIM:260500)
- Papilledema (HP:0001085): Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. Evidence: TAS. (OMIM:260500)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. (OMIM:260500)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. (OMIM:260500)
- Osteosarcoma (HP:0002669): A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. Evidence: PCS. Frequency: 1/1. Onset: Intermediate young adult onset (HP:0025709). (PMID:12085209)
- Choroid plexus papilloma (HP:0200022): Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus. Evidence: PCS. Frequency: 1/1. Onset: Late young adult onset (HP:0025710). (PMID:12085209)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. (OMIM:260500)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. (OMIM:260500)
- 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:12085209)