{"Name":"Anaplastic ependymoma","DiseaseID__c":"GARD:0010634","id":10634,"encodedName":"anaplastic-ependymoma","IsDeleted":false,"Disease_Name_Full__c":"Anaplastic ependymoma","Xref_IDs__c":"423022536; C0280788; C4049; DOID:5074; DOID:5889; MEDGEN:128891; MONDO:0016700; ORPHA:251646","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0016700","Disease_Description__c":"A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.","GARD_Name__c":"Anaplastic ependymoma","GARD_Synonym__c":"anaplastic ependymal neoplasm; anaplastic ependymal tumor; anaplastic ependymal tumour; ependymoma, anaplastic; ependymoma, anaplastic, malignant; ependymoma, malignant; high-grade ependymoma; malignant ependymoma; malignant epithelial ependymoma; undifferentiated ependymal neoplasm; undifferentiated ependymal tumor; undifferentiated ependymal tumour; undifferentiated ependymoma; who grade iii ependymal neoplasm; who grade iii ependymal tumor; who grade iii ependymal tumour","Curated_Disease_Description_Source__c":"GARD:0010634","Curated_Disease_Description__c":"Anaplastic ependymoma is a type of ependymoma, which is a tumor that forms when cells in the central nervous system (including the brain and spinal cord) begin to multiply rapidly. An ependymoma is anaplastic if the cells grow very quickly and are significantly unusual in shape. Ependymomas can occur at any age. When ependymomas occur in children, they are more frequently located in the brain (intracranial). Ependymomas are more often found in the spinal cord of affected adults. The exact cause of an Anaplastic ependymoma is not known, but it is thought that certain changes (acquired pathogenic variants, also known as somatic genetic changes ) in specific genes in some cells of the body allow the cells to begin growing quickly. A diagnosis of Anaplastic ependymoma is generally suspected based on imaging with MRI or CT scan. The diagnosis can be confirmed with a biopsy of the tumor or when the tumor is removed (resected).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:251646","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016700","ORPHANET_ID__c":"ORPHA:251646","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ependimoma anaplásico","Spanish_Description_Source__c":"ORPHA:251646","Spanish_Description__c":"Es un tipo de ependimoma maligno poco frecuente que aparece más a menudo en la región supratentorial del cerebro en niños y adultos jóvenes. Se manifiesta con síntomas variables que incluyen dolores de cabeza, náuseas, deficiencia visual, pérdida de memoria y dificultad ambulatoria.","Spanish_Disease_Name__c":"ependimoma anaplásico","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":"Anaplastic ependymoma is a type of ependymoma, which is a tumor that forms when cells in the central nervous system (including the brain and spinal cord) begin to multiply rapidly. An ependymoma is anaplastic if the cells grow very quickly and are significantly unusual in shape. Ependymomas can occur at any age. When ependymomas occur in children, they are more frequently located in the brain (intracranial). Ependymomas are more often found in the spinal cord of affected adults. The exact cause of an Anaplastic ependymoma is not known, but it is thought that certain changes (acquired pathogenic variants, also known as somatic genetic changes ) in specific genes in some cells of the body allow the cells to begin growing quickly. A diagnosis of Anaplastic ependymoma is generally suspected based on imaging with MRI or CT scan. The diagnosis can be confirmed with a biopsy of the tumor or when the tumor is removed (resected).","Curated_Disease_Description_Source__c":"GARD:0010634","GARD_Synonym__c":"anaplastic ependymal neoplasm; anaplastic ependymal tumor; anaplastic ependymal tumour; ependymoma, anaplastic; ependymoma, anaplastic, malignant; ependymoma, malignant; high-grade ependymoma; malignant ependymoma; malignant epithelial ependymoma; undifferentiated ependymal neoplasm; undifferentiated ependymal tumor; undifferentiated ependymal tumour; undifferentiated ependymoma; who grade iii ependymal neoplasm; who grade iii ependymal tumor; who grade iii ependymal tumour","Name":"Anaplastic ependymoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.org/"},{"Account_Name__c":"Pediatric Brain Tumor Foundation","Website__c":"https://www.curethekids.org/"},{"Account_Name__c":"The Childhood Brain Tumor Foundation","Website__c":"https://www.childhoodbraintumor.org/"},{"Account_Name__c":"CERN Foundation","Website__c":"https://www.cern-foundation.org/"},{"Account_Name__c":"Collaborative Ependymoma Research Network","Website__c":"https://cern-foundation.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":"Childhood","Provided_By__c":"ORPHA:251646"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:251646"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:251646"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=128891","Source__c":"C0280788","Xref__c":"MEDGEN:128891"},{"URL__c":"https://www.orpha.net/en/disease/detail/251646","Source__c":"C0280788; MONDO:0016700; ORPHA:251646","Xref__c":"ORPHA:251646"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4049","Source__c":"C0280788; MONDO:0016700","Xref__c":"C4049"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0280788","Source__c":"C0280788","Xref__c":"C0280788"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5074","Source__c":"MONDO:0016700","Xref__c":"DOID:5074"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5889","Source__c":"MONDO:0016700","Xref__c":"DOID:5889"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=21589007","Source__c":"C0280788","Xref__c":"21589007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016700","Source__c":"GARD:0010634","Xref__c":"MONDO:0016700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156903009","Source__c":"C0280788","Xref__c":"1156903009"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022536","Xref__c":"423022536"}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["anaplastic ependymal neoplasm"," anaplastic ependymal tumor"," anaplastic ependymal tumour"," ependymoma, anaplastic"," ependymoma, anaplastic, malignant"," ependymoma, malignant"," high-grade ependymoma"," malignant ependymoma"," malignant epithelial ependymoma"," undifferentiated ependymal neoplasm"," undifferentiated ependymal tumor"," undifferentiated ependymal tumour"," undifferentiated ependymoma"," who grade iii ependymal neoplasm"," who grade iii ependymal tumor"," who grade iii ependymal tumour"]}