Hemangioblastoma

A rare benign, highly vascularized tumor characterized by various symptoms depending on the location. They typically occur in the brain (typically cerebellum, in addition to brainstem, cerebrum) and spinal cord, and predominantly affect the central nervous system. However they can also be found in peripheral nerves, bone and soft tissue, liver, lung, pancreas, kidney, intestines, and skin in a lesser extent. They most commonly occur sporadically or in association with von Hippel-Lindau syndrome. Patients having cerebellar tumors often present with headaches, nausea, vomiting, and signs of increased intracranial pressure, whereas patients having brainstem tumors develop motor and sensory deficits, ataxia, and potentially fatal hemorrhages. Hemangioblastomas located in spinal cord may result in localized pain, motor weakness, sensory disturbances, and bowel or bladder dysfunction. Patients having optic nerve hemangioblastoma were also reported of either being asymptomatic or manifest vision loss, proptosis, and pain.

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Orphanet records no gene directly on this code.

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

Run the differential on the 8 obligate / very frequent terms

Annotation source: 25634201[PMID]_12946211[PMID]_10658709[PMID]_361212[PMID]_4926822[PMID]

• Orphanet page: orpha.net/en/disease/detail/252054
• This record as JSON: /data/d/252054.json