{"Name":"Hemangioblastoma","DiseaseID__c":"GARD:0008232","id":8232,"encodedName":"hemangioblastoma","IsDeleted":false,"Disease_Name_Full__c":"Hemangioblastoma","Xref_IDs__c":"1156474009; 81201000; C0206734; C3801; D018325; DOID:5241; HP:0010797; MEDGEN:104929; MONDO:0016748; ORPHA:252054","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016748","Disease_Description__c":"Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.","GARD_Name__c":"Hemangioblastoma","GARD_Synonym__c":"angioblastoma; capillary hemangioblastoma; haemangioblastoma","Curated_Disease_Description_Source__c":"GARD:0008232","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:252054","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016748","ORPHANET_ID__c":"ORPHA:252054","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemangioblastoma","Spanish_Description_Source__c":"ORPHA:252054","Spanish_Description__c":"El hemangioblastoma es un tumor poco frecuente, benigno y muy vascularizado del sistema nervioso central localizado con mayor frecuencia en el cerebelo o la médula espinal. Se presenta en la edad adulta y se manifiesta con mareos, náuseas, malestar, dolor de cabeza, disfunción de la vejiga o intestinal, entumecimiento, debilidad y dolor en las extremidades superiores o inferiores, y se asocia a menudo con la enfermedad de von Hippel-Lindau (VHL; consulte este término). Se han descrito casos excepcionales de hemangioblastomas que se originan en tejidos fuera del sistema nervioso central.","Spanish_Disease_Name__c":"hemangioblastoma","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"GARD:0008232","GARD_Synonym__c":"angioblastoma; capillary hemangioblastoma; haemangioblastoma","Name":"Hemangioblastoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"VHL Alliance","Website__c":"https://www.vhl.org/"},{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.org/"},{"Account_Name__c":"National Brain Tumor Society","Website__c":"https://braintumor.org/"},{"Account_Name__c":"International Brain Tumour Alliance","Website__c":"https://theibta.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:252054"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/252054","Source__c":"C0206734; MONDO:0016748; ORPHA:252054","Xref__c":"ORPHA:252054"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5241","Source__c":"MONDO:0016748","Xref__c":"DOID:5241"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018325","Source__c":"C0206734; MONDO:0016748","Xref__c":"D018325"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=104929","Source__c":"C0206734","Xref__c":"MEDGEN:104929"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3801","Source__c":"C0206734; MONDO:0016748","Xref__c":"C3801"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0206734","Source__c":"C0206734","Xref__c":"C0206734"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156474009","Source__c":"C0206734","Xref__c":"1156474009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016748","Source__c":"GARD:0008232","Xref__c":"MONDO:0016748"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=81201000","Source__c":"C0206734","Xref__c":"81201000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010797","Source__c":"C0206734","Xref__c":"HP:0010797"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000011","HPO_Synonym__c":"Lack of bladder control due to nervous system injury","HPO_Name__c":"Neurogenic bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012534","HPO_Synonym__c":"Dysaesthesia; Hyperalgesia; Hyperpathia","HPO_Name__c":"Dysesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010797","HPO_Synonym__c":"Haemangioblastoma","HPO_Name__c":"Hemangioblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hemangioblastoma of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006880","HPO_Synonym__c":"Hemangioblastoma, sporadic cerebellar","HPO_Name__c":"Cerebellar hemangioblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003484","HPO_Synonym__c":"Decreased arm strength; Weak arm","HPO_Name__c":"Upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cystic lesion originating within the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010576","HPO_Synonym__c":"Cerebral cystic malformation","HPO_Name__c":"Intracranial cystic lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100661","HPO_Synonym__c":"Tic douloureux","HPO_Name__c":"Trigeminal neuralgia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hemangioblastoma of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009713","HPO_Name__c":"Spinal hemangioblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A benign vascular tumor of the retina without any neoplastic characteristics.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009711","HPO_Name__c":"Retinal capillary hemangioma","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An decreased amount of bowel sounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030144","HPO_Synonym__c":"Decreased bowel sounds","HPO_Name__c":"Hypoactive bowel sounds","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252054","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030915","HPO_Synonym__c":"Cerebellar edema; Edema of the cerebellum; Oedema of the cerebellum","HPO_Name__c":"Cerebellar edema","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Vascular Neurology","Vascular Medicine"],"Disease Category":["Cancer","Neurology"]},"synonyms":["angioblastoma"," capillary hemangioblastoma"," haemangioblastoma"]}