{"Name":"Nut midline carcinoma","DiseaseID__c":"GARD:0021852","id":21852,"encodedName":"nut-midline-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Nut midline carcinoma","Xref_IDs__c":"423022477; C1707291; C45716; DOID:0060463; MEDGEN:312999; MONDO:0005563; ORPHA:443167","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"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":4,"Description_Source__c":"MONDO:0005563","Disease_Description__c":"A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.","GARD_Name__c":"Nut midline carcinoma","GARD_Synonym__c":"carcinoma with t(15;19)(q13;p13.1) translocation; midline carcinoma of children and young adults with nut rearrangement; nmc; nuclear protein in testis associated carcinoma; nuclear protein in testis carcinoma; nuclear protein in testis midline carcinoma; nut (nuclear protein in testis) carcinoma; nut (nuclear protein in testis) midline carcinoma; nut carcinoma","Curated_Disease_Description_Source__c":"MONDO:0005563","Curated_Disease_Description__c":"A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:443167","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0005563","ORPHANET_ID__c":"ORPHA:443167","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma de la línea media nut","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma de la línea media nut","Spanish_GARD_Synonym__c":"nmc","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 rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.","Curated_Disease_Description_Source__c":"MONDO:0005563","GARD_Synonym__c":"carcinoma with t(15;19)(q13;p13.1) translocation; midline carcinoma of children and young adults with nut rearrangement; nmc; nuclear protein in testis associated carcinoma; nuclear protein in testis carcinoma; nuclear protein in testis midline carcinoma; nut (nuclear protein in testis) carcinoma; nut (nuclear protein in testis) midline carcinoma; nut carcinoma","Name":"Nut midline carcinoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NUT Carcinoma Alliance","Website__c":"https://nutcarcinomaalliance.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:443167"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:443167"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:443167"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:443167"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=312999","Source__c":"C1707291","Xref__c":"MEDGEN:312999"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1707291","Source__c":"C1707291","Xref__c":"C1707291"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C45716","Source__c":"C1707291; MONDO:0005563","Xref__c":"C45716"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060463","Source__c":"MONDO:0005563","Xref__c":"DOID:0060463"},{"URL__c":"https://www.orpha.net/en/disease/detail/443167","Source__c":"C1707291; MONDO:0005563; ORPHA:443167","Xref__c":"ORPHA:443167"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187622004","Source__c":"C1707291","Xref__c":"1187622004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005563","Source__c":"GARD:0021852","Xref__c":"MONDO:0005563"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733922002","Source__c":"C1707291","Xref__c":"733922002"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022477","Xref__c":"423022477"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:443167","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rare pediatric carcinoma of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100757","HPO_Name__c":"Pancreatoblastoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:443167","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001909","HPO_Name__c":"Leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:443167","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the central compartment of the thoracic cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045026","HPO_Synonym__c":"Abnormality of the mediastinum","HPO_Name__c":"Abnormal mediastinum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:443167","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003006","HPO_Synonym__c":"Cancer of early nerve cells","HPO_Name__c":"Neuroblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:443167","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012142","HPO_Synonym__c":"Squamous cell carcinoma of the pancreas","HPO_Name__c":"Pancreatic squamous cell carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:443167","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:443167","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012254","HPO_Synonym__c":"Ewing's sarcoma","HPO_Name__c":"Ewing sarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:443167","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:443167","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A squamous cell carcinoma that originates in the oropharnyx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012182","HPO_Name__c":"Oropharyngeal squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["carcinoma with t(15","19)(q13","p13.1) translocation"," midline carcinoma of children and young adults with nut rearrangement"," nmc"," nuclear protein in testis associated carcinoma"," nuclear protein in testis carcinoma"," nuclear protein in testis midline carcinoma"," nut (nuclear protein in testis) carcinoma"," nut (nuclear protein in testis) midline carcinoma"," nut carcinoma"]}