The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the cerebral vasculature||90%|
|Abnormality of the retinal vasculature||90%|
|Aplasia/Hypoplasia of the cerebellum||90%|
|Neurological speech impairment||90%|
|Sensorineural hearing impairment||90%|
|Multicystic kidney dysplasia||50%|
|Nausea and vomiting||50%|
|Telangiectasia of the skin||50%|
|Abnormality of the lymphatic system||7.5%|
|Abnormality of the macula||7.5%|
|Increased intracranial pressure||7.5%|
|Neoplasm of the middle ear||7.5%|
|Polycystic kidney dysplasia||7.5%|
|Abnormality of the liver||-|
|Autosomal dominant inheritance||-|
|Multiple renal cysts||-|
|Neoplasm of the pancreas||-|
|Papillary cystadenoma of the epididymis||-|
|Pulmonary capillary hemangiomatosis||-|
|Renal cell carcinoma||-|
|Retinal capillary hemangioma||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Can VHL miss a generation and return in the next? See answer
I am looking for information about Von-Hippel Lindau syndrome, including how it might be treated. See answer
I have VHL and have cysts in both of my kidneys. I have been experiencing new symptoms, including hearing loss on the left side, constant ringing in the left ear, problems with balance, and trouble catching my breath. There are times that I get flushed and very hot, and then my blood pressure drops very low. I live in Maine and the doctors here don't know much about VHL. Are these symptoms serious? See answer
Please send me information on Von Hippel Lindau disease. I have high blood pressure, severe headaches, dizziness, and quick to anger. After reading information on the Internet, I believe my symptoms might be explainded by VHL disease. See answer