Rare Dermatology News

Disease Profile


Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset




D33.4 D33.7


Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable



Nervous System Diseases; Rare Cancers


A hemangioblastoma is a benign, highly vascular tumor that can occur in the brain, spinal cord, and retina (the light-sensitive tissue that lines the back of the eye). This tumor accounts for about 2% of brain tumors. As it enlarges, it presses on the brain and can cause neurological symptoms, such as headaches, weakness, sensory loss, balance and coordination problems, and/or hydrocephalus (a buildup of spinal fluid in the brain). Most hemangioblastomas occur sporadically. However, some people develop hemangioblastomas as part of a genetic syndrome called von Hippel-Lindau syndrome. These people usually develop multiple tumors within the brain and spinal cord over their lifetime.[1][2]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Cerebellar edema
Cerebellar hemangioblastoma
Intracranial cystic lesion
Nausea and vomiting
Retinal capillary hemangioma
Dizzy spell
30%-79% of people have these symptoms
Hypoactive bowel sounds
Decreased bowel sounds
Lower limb muscle weakness
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs

[ more ]

Neurogenic bladder
Lack of bladder control due to nervous system injury
Spinal hemangioblastoma
Trigeminal neuralgia
Upper limb muscle weakness
Decreased arm strength
Weak arm

[ more ]

5%-29% of people have these symptoms
Too much cerebrospinal fluid in the brain


Most hemangioblastomas rise sporadically, without a known cause. However, in about one quarter of all cases, they are associated with von Hippel-Lindau (VHL) syndrome.[2] VHL is an inherited condition characterized by the abnormal growth of tumors in certain parts of the body. The specific tumors that are associated with VHL syndrome include hemangioblastomas of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytomas; and endolymphatic sac tumorsMutations in the VHL gene cause von Hippel-Lindau syndrome. These mutations are inherited in an autosomal dominant pattern.[3]


Although the exact cause of hemangioblastoma is unknown, its presence in various clinical syndromes may suggest an underlying genetic abnormality. The genetic hallmark of hemangioblastomas is the loss of function of the VHL gene.[2]

GeneTests lists the names of laboratories that are performing genetic testing for von Hippel-Lindau syndrome. To view the contact information for the clinical laboratories conducting testing, click herePlease note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.


Surgery is considered the standard treatment for hemangioblastoma and usually cures this condition.[2] Following surgery, individuals who have had a hemangioblastoma should continue to visit their physician regularly for physical examinations and magnetic resonance imaging (MRI) of the brain.[2][4] These suggested guidelines for follow-up after hemangioblastoma do not state how frequently physician visits or MRIs should be.


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    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.

    In-Depth Information

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemangioblastoma. Click on the link to view a sample search on this topic.


      1. Hemangioblastoma. Genetics Home Reference. June 2011; https://ghr.nlm.nih.gov/glossary=hemangioblastoma. Accessed 7/5/2011.
      2. Slavin KV & Wyler AR. Hemangioblastoma. eMedicine. May 2011; https://emedicine.medscape.com/article/250670-overview#showall. Accessed 7/5/2011.
      3. Von Hippel-Lindau Syndrome. Genetics Home Reference. July, 2012; https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome.
      4. National Comprehensive Cancer Network. Central Nervous System Cancers. NCCN Clinical Practice Guidelines in Oncology. 2014; Version 2.2014:https://www.nccn.org/professionals/physician_gls/pdf/cns.pdf. Accessed 4/13/2015.
      5. Duplicateplease use 10529. Von Hippel-Lindau Syndrome. Genetics Home Reference (GHR). July 2008; https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome. Accessed 7/5/2011.

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