{"Name":"Malignant peripheral nerve sheath tumor","DiseaseID__c":"GARD:0010872","id":10872,"encodedName":"malignant-peripheral-nerve-sheath-tumor","IsDeleted":false,"Disease_Name_Full__c":"Malignant peripheral nerve sheath tumor","Xref_IDs__c":"19897006; 404037002; C0751690; C3798; DOID:5940; MEDGEN:155614; MONDO:0017827; ORPHA:3148","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":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0017827","Disease_Description__c":"Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.","GARD_Name__c":"Malignant peripheral nerve sheath tumor","GARD_Synonym__c":"malig. periph. nerve sheath tum.; malignant neoplasm of peripheral nerve sheath; malignant neoplasm of the peripheral nerve sheath; malignant neurilemmoma; malignant neurilemoma; malignant neurofibroma; malignant peripheral nerve sheath neoplasm; malignant peripheral nerve sheath tumor (morphologic abnormality); malignant peripheral nerve sheath tumor [dup] (morphologic abnormality); malignant peripheral nerve sheath tumour (morphologic abnormality); malignant peripheral nerve sheath tumour [dup] (morphologic abnormality); malignant schwannoma; malignant tumor of peripheral nerve sheath; malignant tumor of the peripheral nerve sheath; malignant tumour of peripheral nerve sheath; malignant tumour of the peripheral nerve sheath; mpnst; mpnst - malignant peripheral nerve sheath tumor; neurofibrosarcoma, malignant; neurogenic sarcoma; schwannoma, malignant","Curated_Disease_Description_Source__c":"GARD:0010872","Curated_Disease_Description__c":"A Malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops in the protective lining that covers nerves. The first symptom of MPNST is often a lump or mass that increases in size, sometimes causing pain or a tingling sensation. MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung. Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:3148","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017827","ORPHANET_ID__c":"ORPHA:3148","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tumor maligno de la vaina nerviosa periférica","Spanish_Description_Source__c":"ORPHA:3148","Spanish_Description__c":"El tumor maligno de la vaina nerviosa periférica (MPNST) es un sarcoma de tejido blando raro y a menudo agresivo que ocurre en un amplio rango de localizaciones anatómicas.","Spanish_Disease_Name__c":"tumor maligno de la vaina nerviosa periférica","Spanish_GARD_Synonym__c":"mpnst; neurilemoma maligno; neurofibroma maligno; neurofibrosarcoma; sarcoma neurogénico; schwannoma maligno","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 Malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops in the protective lining that covers nerves. The first symptom of MPNST is often a lump or mass that increases in size, sometimes causing pain or a tingling sensation. MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung. Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.","Curated_Disease_Description_Source__c":"GARD:0010872","GARD_Synonym__c":"malig. periph. nerve sheath tum.; malignant neoplasm of peripheral nerve sheath; malignant neoplasm of the peripheral nerve sheath; malignant neurilemmoma; malignant neurilemoma; malignant neurofibroma; malignant peripheral nerve sheath neoplasm; malignant peripheral nerve sheath tumor (morphologic abnormality); malignant peripheral nerve sheath tumor [dup] (morphologic abnormality); malignant peripheral nerve sheath tumour (morphologic abnormality); malignant peripheral nerve sheath tumour [dup] (morphologic abnormality); malignant schwannoma; malignant tumor of peripheral nerve sheath; malignant tumor of the peripheral nerve sheath; malignant tumour of peripheral nerve sheath; malignant tumour of the peripheral nerve sheath; mpnst; mpnst - malignant peripheral nerve sheath tumor; neurofibrosarcoma, malignant; neurogenic sarcoma; schwannoma, malignant","Name":"Malignant peripheral nerve sheath tumor","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Nerve Tumours UK","Website__c":"https://nervetumours.org.uk"},{"Account_Name__c":"Sarcoma Foundation of America","Website__c":"https://www.curesarcoma.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"}],"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":"Adult","Provided_By__c":"ORPHA:3148"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:3148"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3148"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3148"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:3148"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751690","Source__c":"C0751690","Xref__c":"C0751690"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3798","Source__c":"C0751690; MONDO:0017827","Xref__c":"C3798"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=155614","Source__c":"C0751690","Xref__c":"MEDGEN:155614"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5940","Source__c":"MONDO:0017827","Xref__c":"DOID:5940"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404037002","Source__c":"C0751690; MONDO:0017827","Xref__c":"404037002"},{"URL__c":"https://www.orpha.net/en/disease/detail/3148","Source__c":"C0751690; MONDO:0017827; ORPHA:3148","Xref__c":"ORPHA:3148"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017827","Source__c":"GARD:0010872","Xref__c":"MONDO:0017827"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=19897006","Source__c":"C0751690","Xref__c":"19897006"}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["malig. periph. nerve sheath tum."," malignant neoplasm of peripheral nerve sheath"," malignant neoplasm of the peripheral nerve sheath"," malignant neurilemmoma"," malignant neurilemoma"," malignant neurofibroma"," malignant peripheral nerve sheath neoplasm"," malignant peripheral nerve sheath tumor (morphologic abnormality)"," malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)"," malignant peripheral nerve sheath tumour (morphologic abnormality)"," malignant peripheral nerve sheath tumour [dup] (morphologic abnormality)"," malignant schwannoma"," malignant tumor of peripheral nerve sheath"," malignant tumor of the peripheral nerve sheath"," malignant tumour of peripheral nerve sheath"," malignant tumour of the peripheral nerve sheath"," mpnst"," mpnst - malignant peripheral nerve sheath tumor"," neurofibrosarcoma, malignant"," neurogenic sarcoma"," schwannoma, malignant"]}