{"Name":"Pilocytic astrocytoma","DiseaseID__c":"GARD:0009808","id":9808,"encodedName":"pilocytic-astrocytoma","IsDeleted":false,"Disease_Name_Full__c":"Pilocytic astrocytoma","Xref_IDs__c":"128854008; 763865009; C0334583; C4047; DOID:4851; HP:0033680; MEDGEN:87271; MONDO:0016691; ORPHA:251612","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016691","Disease_Description__c":"Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.","GARD_Name__c":"Pilocytic astrocytoma","GARD_Synonym__c":"astrocytoma, benign; astrocytoma, pilocytic, benign; grade i astrocytic neoplasm; grade i astrocytic tumor; grade i astrocytic tumour; grade i astrocytoma; pilocytic astrocytoma, somatic; piloid astrocytoma","Curated_Disease_Description_Source__c":"GARD:0009808","Curated_Disease_Description__c":"Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a Pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:251612","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016691","ORPHANET_ID__c":"ORPHA:251612","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Astrocitoma pilocítico","Spanish_Description_Source__c":"ORPHA:251612","Spanish_Description__c":"El astrocitoma pilocítico es un subtipo de glioma del sistema nervioso central de bajo grado y poco frecuente caracterizado por un tumor cerebral bien circunscrito, a menudo quístico, con un nódulo mural diferenciado y largas proyecciones pilosas que se extienden desde los astrocitos neoplásicos. Dependiendo de la localización primaria y del tamaño del tumor, los afectados pueden presentarse con signos de presión intracraneal elevada (cefalea, vómitos, papiledema), visión borrosa, agudeza visual reducida, ataxia y/o nistagmo, entre otros. Por lo general, se localiza en el cerebelo, aunque también se ha descrito su localización en el hipotálamo, tronco cerebral, quiasma óptico y hemisferios.","Spanish_Disease_Name__c":"astrocitoma pilocítico","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":"Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a Pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis.","Curated_Disease_Description_Source__c":"GARD:0009808","GARD_Synonym__c":"astrocytoma, benign; astrocytoma, pilocytic, benign; grade i astrocytic neoplasm; grade i astrocytic tumor; grade i astrocytic tumour; grade i astrocytoma; pilocytic astrocytoma, somatic; piloid astrocytoma","Name":"Pilocytic astrocytoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pediatric Brain Tumor Foundation","Website__c":"https://www.curethekids.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:251612"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0334583"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4047","Source__c":"C0334583; MONDO:0016691","Xref__c":"C4047"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0334583","Source__c":"C0334583","Xref__c":"C0334583"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4851","Source__c":"MONDO:0016691","Xref__c":"DOID:4851"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87271","Source__c":"C0334583","Xref__c":"MEDGEN:87271"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763865009","Source__c":"C0334583; MONDO:0016691","Xref__c":"763865009"},{"URL__c":"https://www.orpha.net/en/disease/detail/251612","Source__c":"C0334583; MONDO:0016691; ORPHA:251612","Xref__c":"ORPHA:251612"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0033680","Source__c":"C0334583","Xref__c":"HP:0033680"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128854008","Source__c":"C0334583","Xref__c":"128854008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016691","Source__c":"GARD:0009808","Xref__c":"MONDO:0016691"}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["astrocytoma, benign"," astrocytoma, pilocytic, benign"," grade i astrocytic neoplasm"," grade i astrocytic tumor"," grade i astrocytic tumour"," grade i astrocytoma"," pilocytic astrocytoma, somatic"," piloid astrocytoma"]}