{"Name":"Turcot syndrome","DiseaseID__c":"GARD:0017217","id":17217,"encodedName":"turcot-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Turcot syndrome","Xref_IDs__c":"61665008; C0265325; C130202; C3938; DOID:0112182; MEDGEN:78553; MONDO:0031219; OMIMPS:276300","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:252202","Disease_Description__c":"Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.","GARD_Name__c":"Turcot syndrome","GARD_Synonym__c":"constitutional mismatch repair deficiency syndrome; mismatch repair cancer syndrome; turcot's syndrome","Curated_Disease_Description_Source__c":"ORPHA:252202","Curated_Disease_Description__c":"An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:252202","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0031219","ORPHANET_ID__c":"ORPHA:252202","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.","Curated_Disease_Description_Source__c":"ORPHA:252202","GARD_Synonym__c":"constitutional mismatch repair deficiency syndrome; mismatch repair cancer syndrome; turcot's syndrome","Name":"Turcot syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Krishnan Family Foundation","Website__c":"https://krishnanfamilyfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1211","Source__c":"Gene Review","Xref__c":"NBK1211"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112182","Source__c":"MONDO:0031219","Xref__c":"DOID:0112182"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265325","Source__c":"C0265325","Xref__c":"C0265325"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78553","Source__c":"C0265325","Xref__c":"MEDGEN:78553"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS276300","Source__c":"MONDO:0031219","Xref__c":"OMIMPS:276300"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3938","Source__c":"C0265325","Xref__c":"C3938"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61665008","Source__c":"C0265325","Xref__c":"61665008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0031219","Source__c":"GARD:0017217","Xref__c":"MONDO:0031219"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C130202","Source__c":"MONDO:0031219","Xref__c":"C130202"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Immunology"],"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["constitutional mismatch repair deficiency syndrome"," mismatch repair cancer syndrome"," turcot's syndrome"]}