{"Name":"Muir-Torré syndrome","DiseaseID__c":"GARD:0006821","id":6821,"encodedName":"muir-torr-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Muir-Torré syndrome","Xref_IDs__c":"403824007; C1321489; C84905; D055653; DOID:0050465; MEDGEN:231157; MONDO:0008018; OMIM:158320","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008018","Disease_Description__c":"Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.","GARD_Name__c":"Muir-Torré syndrome","GARD_Synonym__c":"cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; mlh1-related muir-torre syndrome; mrtes; msh2-related muir-torre syndrome; muir-torre syndrome; multiple keratoacanthoma, muir-torre type; torre-muir syndrome; torré-muir syndrome","Curated_Disease_Description_Source__c":"GARD:0006821","Curated_Disease_Description__c":"Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A genetic change in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:587","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008018","ORPHANET_ID__c":null,"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":null,"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":"Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A genetic change in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.","Curated_Disease_Description_Source__c":"GARD:0006821","GARD_Synonym__c":"cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; mlh1-related muir-torre syndrome; mrtes; msh2-related muir-torre syndrome; muir-torre syndrome; multiple keratoacanthoma, muir-torre type; torre-muir syndrome; torré-muir syndrome","Name":"Muir-Torré syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Fight Colorectal Cancer","Website__c":"https://fightcolorectalcancer.org/"},{"Account_Name__c":"Colon Cancer Alliance","Website__c":"https://www.ccalliance.org/"},{"Account_Name__c":"Lynch Syndrome International","Website__c":"https://lynchcancers.com/"}],"GARD_Disease_Tag__c":[{"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1321489"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006821","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1211","Source__c":"Gene Review","Xref__c":"NBK1211"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C055653","Source__c":"MONDO:0008018","Xref__c":"D055653"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403824007","Source__c":"C1321489; MONDO:0008018","Xref__c":"403824007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1321489","Source__c":"C1321489","Xref__c":"C1321489"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84905","Source__c":"C1321489; MONDO:0008018","Xref__c":"C84905"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=231157","Source__c":"C1321489","Xref__c":"MEDGEN:231157"},{"URL__c":"https://www.omim.org/entry/158320","Source__c":"C1321489; MONDO:0008018","Xref__c":"OMIM:158320"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050465","Source__c":"MONDO:0008018","Xref__c":"DOID:0050465"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008018","Source__c":"GARD:0006821","Xref__c":"MONDO:0008018"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MSH2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/msh2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MLH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mlh1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:158320","Feature__r":{"HPO_Description__c":"A malignant epithelial tumor with a glandular organization that originates in the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006771","HPO_Name__c":"Duodenal adenocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","Feature__r":{"HPO_Description__c":"The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009720","HPO_Synonym__c":"Facial angiofibromas; Sebaceous adenoma","HPO_Name__c":"Adenoma sebaceum","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003003","HPO_Synonym__c":"Colon cancer","HPO_Name__c":"Colon cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","Feature__r":{"HPO_Description__c":"The presence of multiple diverticula of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002253","HPO_Synonym__c":"Colonic diverticulosis","HPO_Name__c":"Colonic diverticula","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006719","HPO_Synonym__c":"Benign GI tract tumors; Non-cancerous GI tumors","HPO_Name__c":"Benign gastrointestinal tract tumors","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","Feature__r":{"HPO_Description__c":"A carcinoma of the larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012118","HPO_Synonym__c":"Cancer of the larynx; Laryngeal cancer","HPO_Name__c":"Laryngeal carcinoma","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100615","HPO_Synonym__c":"Neoplasm of the ovaries; Neoplasm of the ovary; Ovarian tumor","HPO_Name__c":"Ovarian neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","Feature__r":{"HPO_Description__c":"The presence of a malignant neoplasm of the genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006758","HPO_Synonym__c":"Malignant GU tract tumor","HPO_Name__c":"Malignant genitourinary tract tumor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","Feature__r":{"HPO_Description__c":"A non-malignant neoplasm of the genitourinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006778","HPO_Synonym__c":"Benign genitourinary tract tumor; Benign GU tract neoplasm","HPO_Name__c":"Benign genitourinary tract neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:158320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030410","HPO_Synonym__c":"Sebaceous carcinoma","HPO_Name__c":"Sebaceous gland carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer"]},"synonyms":["cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas"," mlh1-related muir-torre syndrome"," mrtes"," msh2-related muir-torre syndrome"," muir-torre syndrome"," multiple keratoacanthoma, muir-torre type"," torre-muir syndrome"," torré-muir syndrome"]}