{"orpha":144,"name":"Lynch syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors. LS-associated tumors are typically characterized by the presence of microsatellite instability (MSI) and loss of expression of MMR proteins in tumor tissue.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-144/","orphanet_url":"https://www.orpha.net/en/disease/detail/144","names":{"fr":{"name":"Syndrome de Lynch","definition":"Forme rare de cancer du côlon héréditaire non polyposique (CCHNP) caractérisée par une prédisposition à de nombreux cancers, y compris à des néoplasmes du tube digestif, des voies urinaires, de l'endomètre, des ovaires, du cerveau et de la prostate, ainsi qu'à des tumeurs cutanées sébacées. Les tumeurs associées au syndrome de Lynch sont typiquement caractérisées par une instabilité des microsatellites et par la perte d'expression des protéines MMR dans le tissu tumoral."},"de":{"name":"Lynch-Syndrom","definition":"Eine seltene Form des hereditären nicht-polypösen Kolonkarzinoms (HNPCC), die durch eine Prädisposition für eine Vielzahl von Krebsarten gekennzeichnet ist, darunter Neoplasien des Verdauungstrakts, der Harnwege, der Gebärmutterschleimhaut, der Eierstöcke, des Gehirns und der Prostata sowie Talgdrüsentumore der Haut. Lynch-Syndrom (LS)-assoziierte Tumoren sind typischerweise durch das Vorhandensein von Mikrosatelliteninstabilität (MSI) und den Verlust der Expression von MMR-Proteinen im Tumorgewebe gekennzeichnet."},"es":{"name":"Síndrome de Lynch","definition":"Es una forma poco frecuente de cáncer colorrectal hereditario no polipósico (CCHNP) caracterizado por predisposición a una amplia variedad de cánceres, incluyendo neoplasias del tracto digestivo, tracto urinario, endometrio, ovario, cerebro y próstata, así como tumores sebáceos de la piel. Los tumores asociados al SL se caracterizan típicamente por la presencia de inestabilidad de microsatélites (IMS) y por la pérdida de expresión de las proteínas MMR en el tejido tumoral."},"it":{"name":"Sindrome di Lynch","definition":"Si tratta di una malattia ereditaria rara che predispone allo sviluppo di un'ampia gamma di tumori, tra i quali le neoplasie del tratto digestivo, delle vie urinarie, dei reni, dell'endometrio, dell'ovaio, del cervello e della prostata, e i tumori cutanei sebacei, a seconda del gene interessato. Le neoplasie possono insorgere ad ogni età, ma spesso colpiscono i giovani. I fattori che influenzano la predisposizione individuale allo sviluppo di questi tumori sono il sesso, l'età, il gene interessato e l'eventuale anamnesi positiva per altri tumori."},"nl":{"name":"Syndroom van Lynch","definition":"Een zeldzame vorm van hereditaire non-polyposis colonkanker, gekenmerkt door predispositie voor een brede waaier van kankers, waaronder neoplasmata van spijsverteringsstelsel, urinewegen, endometrium, ovarium, hersenen, en prostaat, alsook tumoren van talgklieren van huid. Tumoren geassocieerd met syndroom van Lynch (LS) worden doorgaans gekenmerkt door de aanwezigheid van microsatellietinstabiliteit (MSI) en verlies van expressie van MMR-proteïnen in tumorweefsel."},"pt":{"name":"Síndrome Lynch","definition":"Forma rara de cancro do cólon hereditário não polipóide (HNPCC) caracterizada pela predisposição para uma grande variedade de cancros, incluindo neoplasias do trato digestivo, trato urinário, endométrio, ovário, cérebro e próstata, bem como tumores cutâneos sebáceos. Os tumores associados à SL são tipicamente caracterizados pela presença de instabilidade de microssatélites (MSI) e perda de expressão de proteínas mis match repair (MMR) no tecido tumoral."},"pl":{"name":"Zespół Lyncha","definition":"Rzadka postać dziedzicznego raka okrężnicy niezwiązanego z polipowatością (HNPCC), charakteryzująca się predyspozycją do wielu różnych nowotworów, w tym nowotworów przewodu pokarmowego, dróg moczowych, endometrium, jajnika, mózgu i prostaty, a także nowotworów gruczołów łojowych skóry. Guzy związane z zespołem Lyncha zazwyczaj charakteryzują się obecnością niestabilności mikrosatelitarnej (MSI) i utratą ekspresji białek zaangażowanych w naprawę niesparowanych zasad DNA (MMR, mischmatch repair) w tkance nowotworowej."},"cs":{"name":"Lynchův syndrom"},"uk":{"name":"Синдром Лінча","definition":"A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors. LS-associated tumors are typically characterized by the presence of microsatellite instability (MSI) and loss of expression of MMR proteins in tumor tissue."},"zh":{"name":"林奇综合征"},"tr":{"name":"Lynch sendromu"}},"xrefs":[{"source":"OMIM","code":"120435","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613244","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614331","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614337","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614385","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C18.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0005835","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003123","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4552100","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9905","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051981","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":587,"name":"Muir-Torre syndrome","status":"inactive"},{"type":"Moved to","orpha":99817,"name":"Non-polyposis Turcot syndrome","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":443909,"name":"Hereditary nonpolyposis colon cancer","classifications":[152,156,202]}],"children":[],"genes":[{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"19731079[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]},{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"19731079[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]},{"symbol":"PMS1","name":"PMS1 homolog 1, mismatch repair system component","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"9121","ensembl":"ENSG00000064933","omim":"600258","loci":["2q32.2"]},{"symbol":"TGFBR2","name":"transforming growth factor beta receptor 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"11773","ensembl":"ENSG00000163513","omim":"190182","loci":["3p24.1"]},{"symbol":"EPCAM","name":"epithelial cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21769135[PMID]_23938213[PMID]_20301390[PMID]","hgnc":"11529","ensembl":"ENSG00000119888","omim":"185535","loci":["2p21"]},{"symbol":"MLH1","name":"mutL homolog 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23100212[PMID]_26149658[PMID]_20301390[PMID]","hgnc":"7127","ensembl":"ENSG00000076242","omim":"120436","loci":["3p22.2"]},{"symbol":"MSH2","name":"mutS homolog 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22234272[PMID]_26076155[PMID]_20301390[PMID]","hgnc":"7325","ensembl":"ENSG00000095002","omim":"609309","loci":["2p21-p16.3"]},{"symbol":"MSH6","name":"mutS homolog 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25318681[PMID]_20301390[PMID]","hgnc":"7329","ensembl":"ENSG00000116062","omim":"600678","loci":["2p16.3"]},{"symbol":"PMS2","name":"PMS1 homolog 2, mismatch repair system component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18602922[PMID]_20301390[PMID]","hgnc":"9122","ensembl":"ENSG00000122512","omim":"600259","loci":["7p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009720","label":"Adenoma sebaceum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012174","label":"Glioblastoma multiforme","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100613","label":"Death in early adulthood","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006753","label":"Neoplasm of the stomach","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010524","label":"Agnosia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100835","label":"Benign neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100571","label":"Cardiac diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012114","label":"Endometrial carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004377","label":"Hematological neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200008","label":"Intestinal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012118","label":"Laryngeal carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006758","label":"Malignant genitourinary tract tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100031","label":"Neoplasm of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009726","label":"Renal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100684","label":"Salivary gland neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010786","label":"Urinary tract neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}