Phenotypes associated with the disease von Hippel-Lindau disease (OMIM:193300):
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: IEA. (OMIM:193300)
- Hepatic hemangioma (HP:0031207): A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. Evidence: TAS. (OMIM:193300)
- Epididymal cyst (HP:0030424): A smooth, extratesticular, spherical cyst in the head of the epididymis. Evidence: TAS. (OMIM:193300)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: PCS. Frequency: 24/35. (PMID:17609489)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: IEA. (OMIM:193300)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: IEA. (OMIM:193300)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: PCS. Frequency: 27/35. (PMID:17609489)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 34/35. (PMID:17609489)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:17609489)
- Cerebellar hemangioblastoma (HP:0006880): A hemangioblastoma of the cerebellum. Evidence: TAS. (OMIM:193300)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:193300)
- Retinal capillary hemangioma (HP:0009711): A benign vascular tumor of the retina without any neoplastic characteristics. Evidence: IEA. (OMIM:193300)
- Pancreatic cysts (HP:0001737): A cyst of the pancreas that possess a lining of mucous epithelium. Evidence: IEA. (OMIM:193300)
- Polycythemia (HP:0001901): Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Evidence: IEA. (OMIM:193300)
- Spinal hemangioblastoma (HP:0009713): A hemangioblastoma of the spinal cord. Evidence: IEA. (OMIM:193300)
- Paraganglioma (HP:0002668): A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. Evidence: TAS. (OMIM:193300)
- Papillary cystadenoma of the epididymis (HP:0009715): A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. Evidence: IEA. (OMIM:193300)
- 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: IEA. (OMIM:193300)
- Pulmonary capillary hemangiomatosis (HP:0005954). Evidence: IEA. (OMIM:193300)
- Pheochromocytoma (HP:0002666): Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. Evidence: IEA. (OMIM:193300)