{"Name":"Glioblastoma","DiseaseID__c":"GARD:0002491","id":2491,"encodedName":"glioblastoma","IsDeleted":false,"Disease_Name_Full__c":"Glioblastoma","Xref_IDs__c":"393563007; 423022185; C0017636; C129295; C3058; D005909; DOID:3068; MEDGEN:42228; MONDO:0018177; ORPHA:360","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018177","Disease_Description__c":"The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)","GARD_Name__c":"Glioblastoma","GARD_Synonym__c":"gbm; gbm (glioblastoma); giant cell glioblastoma (histologic variant); glioblastoma (disease); glioblastoma multiforme; glioblastoma multiforme (disease); gliosarcoma (histologic variant); grade iv astrocytic neoplasm; grade iv astrocytic tumor; grade iv astrocytic tumour; grade iv astrocytoma; primary glioblastoma multiforme; spongioblastoma multiforme; who grade iv glioma","Curated_Disease_Description_Source__c":"GARD:0002491","Curated_Disease_Description__c":"Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:360","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018177","ORPHANET_ID__c":"ORPHA:360","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Glioblastoma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"glioblastoma","Spanish_GARD_Synonym__c":"gbm; glioblastoma multiforme","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":"Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome.","Curated_Disease_Description_Source__c":"GARD:0002491","GARD_Synonym__c":"gbm; gbm (glioblastoma); giant cell glioblastoma (histologic variant); glioblastoma (disease); glioblastoma multiforme; glioblastoma multiforme (disease); gliosarcoma (histologic variant); grade iv astrocytic neoplasm; grade iv astrocytic tumor; grade iv astrocytic tumour; grade iv astrocytoma; primary glioblastoma multiforme; spongioblastoma multiforme; who grade iv glioma","Name":"Glioblastoma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Pediatric Brain Tumor Foundation","Website__c":"https://www.curethekids.org/"},{"Account_Name__c":"The Healing Exchange BRAIN TRUST","Website__c":"https://braintrust.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"CancerCare","Website__c":"https://www.cancercare.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":"Children's Brain Tumor Foundation","Website__c":"https://cbtf.org/"},{"Account_Name__c":"Neuro-Oncology Branch Brain Tumor Clinic","Website__c":"https://ccr.cancer.gov/Neuro-Oncology-Branch"},{"Account_Name__c":"Glioblastoma Foundation","Website__c":"https://glioblastomafoundation.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:360"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0017636"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1621958"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005909","Source__c":"C0017636; MONDO:0018177","Xref__c":"D005909"},{"URL__c":"https://www.orpha.net/en/disease/detail/360","Source__c":"C0017636; MONDO:0018177","Xref__c":"ORPHA:360"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=393563007","Source__c":"MONDO:0018177","Xref__c":"393563007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=42228","Source__c":"C0017636","Xref__c":"MEDGEN:42228"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0017636","Source__c":"C0017636","Xref__c":"C0017636"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3058","Source__c":"MONDO:0018177","Xref__c":"C3058"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3068","Source__c":"MONDO:0018177","Xref__c":"DOID:3068"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018177","Source__c":"GARD:0002491","Xref__c":"MONDO:0018177"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022185","Xref__c":"423022185"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129295","Source__c":"C0017636","Xref__c":"C129295"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","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:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002500","HPO_Synonym__c":"Abnormality of subcortical white matter; Abnormality of the cerebral white matter; Cerebral white matter abnormalities; Leukoaraiosis; White matter abnormalities; White matter alterations","HPO_Name__c":"Abnormal cerebral white matter morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal accumulation of fluid in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002181","HPO_Synonym__c":"Brain edema; Swelling of brain","HPO_Name__c":"Cerebral edema","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012174","HPO_Synonym__c":"Glioblastoma","HPO_Name__c":"Glioblastoma multiforme","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000712","HPO_Name__c":"Emotional lability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001273","HPO_Synonym__c":"Abnormal corpus callosum; Abnormality of the corpus callosum; Corpus callosum abnormality","HPO_Name__c":"Abnormal corpus callosum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly of cell structure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025461","HPO_Name__c":"Abnormal cell morphology","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012638","HPO_Synonym__c":"Abnormality of nervous system physiology","HPO_Name__c":"Abnormal nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003470","HPO_Synonym__c":"Inability to move; Paralysis","HPO_Name__c":"Paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["gbm"," gbm (glioblastoma)"," giant cell glioblastoma (histologic variant)"," glioblastoma (disease)"," glioblastoma multiforme"," glioblastoma multiforme (disease)"," gliosarcoma (histologic variant)"," grade iv astrocytic neoplasm"," grade iv astrocytic tumor"," grade iv astrocytic tumour"," grade iv astrocytoma"," primary glioblastoma multiforme"," spongioblastoma multiforme"," who grade iv glioma"]}