{"orpha":440437,"name":"Familial colorectal cancer Type X","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FCCTX"],"definition":"A rare inherited cancer-predisposing syndrome characterized by the fulfilment of the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) but without alterations, either somatic or germline, in the DNA mismatch repair (MMR) genes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440437/","orphanet_url":"https://www.orpha.net/en/disease/detail/440437","names":{"fr":{"name":"Cancer colorectal familial type X","synonyms":["FCCTX"],"definition":"Syndrome héréditaire rare de prédisposition au cancer survenant chez des personnes répondant aux critères d'Amsterdam pour le diagnostic du cancer du côlon héréditaire non polyposique (HNPCC pour hereditary nonpolyposis colorectal cancer), sans altération somatique ou germinale des gènes de réparation des mésappariements de l'ADN (gènes MMR pour mismatch repair)."},"de":{"name":"Familiäres kolorektales Karzinom Typ X","synonyms":["FCCTX","Familiäres Kolonkarzinom Typ X"],"definition":"Ein hereditäres Krebsprädispositionssyndrom, das bei Personen auftritt, die die Amsterdam-Kriterien zur Diagnose des hereditären nichtpolypösen kolorektalen Karzinoms (HNPCC) erfüllen, aber keine somatischen oder Keimbahnmutationen in den DNA-Mismatch-Reparatur-Genen (MMR) aufweisen."},"es":{"name":"Cáncer colorrectal familiar tipo X","synonyms":["CCRFX","FCCTX"],"definition":"Es un síndrome hereditario poco frecuente de predisposición al cáncer definido en individuos que cumplen los criterios de Ámsterdam para el cáncer colorrectal hereditario no polipósico (CCHNP) pero sin alteraciones, ni somáticas ni germinales, en los genes de reparación de errores de emparejamiento (MMR; por sus siglas en inglés) del ADN."},"it":{"name":"Tumore colorettale familiare tipo X","synonyms":["FCCTX"],"definition":"È una neoplasia nonpoliposica ereditaria rara del colon, che insorge in soggetti che rispondono ai criteri di Amsterdam per la sindrome di Lynch, ma che non presentano mutazioni della linea germinale nei geni del riparo dei malappaiamenti. Rispetto alla sindrome di Lynch, è caratterizzata da un esordio più tardivo, un prevalente interessamento del colon distale e del retto, un rischio inferiore di metastasi, un rapporto più elevato adenoma/carcinoma, una maggiore differenziazione delle cellule neoplastiche, un'architettura più eterogenea ed una crescita infiltrante."},"nl":{"name":"Familiale colorectale kanker type X","synonyms":["FCCTX"],"definition":"Een zeldzaam erfelijk kankerpredispositiesyndroom, gekenmerkt door vervulling van de Amsterdam-criteria voor hereditaire non-polyposis colorectale kanker (HNPCC) maar zonder veranderingen, noch somatische mutaties noch kiembaanmutaties, in genen voor DNA-mismatch-herstel (MMR)."},"pt":{"name":"Cancro colorectal familiar, tipo X","definition":"Síndrome hereditária rara de predisposição ao cancro, caracterizada pelo validação dos critérios de Amsterdão para o cancro colorretal hereditário sem polipose (HNPCC), mas sem alterações, somáticas ou germinativas, nos genes de \"mismatch repair\" do ADN (MMR)."},"pl":{"name":"Rodzinny rak jelita grubego typu X","synonyms":["FCCTX"]},"cs":{"name":"Familiární kolorektální karcinom, typ X","synonyms":["FCCTX"]},"uk":{"name":"Сімейний колоректальний рак, тип X","synonyms":["FCCTX"],"definition":"A rare inherited cancer-predisposing syndrome characterized by the fulfilment of the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) but without alterations, either somatic or germline, in the DNA mismatch repair (MMR) genes."},"zh":{"name":"X型家族性大肠癌","synonyms":["FCCTX"],"definition":"一种罕见的遗传性非息肉性结肠癌，定义为满足林奇综合征的阿姆斯特丹标准，但在错配修复基因中缺乏可遗传的突变。与林奇综合征相比，它的特点是发病较晚，远端结肠和直肠受累，结肠外癌的发生风险较低，腺瘤比例更高，肿瘤细胞分化度更高，肿瘤内部结构异质性大，浸润性生长方式。"},"tr":{"name":"ailesel kolorektal kanser Tip X","synonyms":["FCCTX"]}},"xrefs":[{"source":"ICD-10","code":"C18.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.5","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.6","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C18.7","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018604","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3896578","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":443909,"name":"Hereditary nonpolyposis colon cancer","classifications":[152,156,202]}],"children":[],"genes":[{"symbol":"ATM","name":"ATM serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36370464[PMID]","hgnc":"795","ensembl":"ENSG00000149311","omim":"607585","loci":["11q22.3"]},{"symbol":"BMPR1A","name":"bone morphogenetic protein receptor type 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21640116[PMID]","hgnc":"1076","ensembl":"ENSG00000107779","omim":"601299","loci":["10q23.2"]},{"symbol":"BRCA2","name":"BRCA2 DNA repair associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36370464[PMID]","hgnc":"1101","ensembl":"ENSG00000139618","omim":"600185","loci":["13q13.1"]},{"symbol":"CHEK2","name":"checkpoint kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17106448[PMID]","hgnc":"16627","ensembl":"ENSG00000183765","omim":"604373","loci":["22q12.1"]},{"symbol":"MUTYH","name":"mutY DNA glycosylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24691292[PMID]_23007840[PMID]","hgnc":"7527","ensembl":"ENSG00000132781","omim":"604933","loci":["1p34.1"]},{"symbol":"NPAT","name":"nuclear protein, coactivator of histone transcription","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38778081[PMID]","hgnc":"7896","ensembl":"ENSG00000149308","omim":"601448","loci":["11q22.3"]},{"symbol":"POLD1","name":"DNA polymerase delta 1, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28306219[PMID]","hgnc":"9175","ensembl":"ENSG00000062822","omim":"174761","loci":["19q13.33"]},{"symbol":"POLE","name":"DNA polymerase epsilon, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23263490[PMID]_36370464[PMID]","hgnc":"9177","ensembl":"ENSG00000177084","omim":"174762","loci":["12q24.33"]},{"symbol":"RPS20","name":"ribosomal protein S20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24941021[PMID]","hgnc":"10405","ensembl":"ENSG00000008988","omim":"603682","loci":["8q12.1"]},{"symbol":"SEMA4A","name":"semaphorin 4A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25307848[PMID]","hgnc":"10729","ensembl":"ENSG00000196189","omim":"607292","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-20","source":"25307848[PMID]_15855431[PMID]_22287689[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","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: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: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:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","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:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012113","label":"Abnormality of creatine metabolism","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: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: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:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100273","label":"Neoplasm of the colon","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: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: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},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010784","label":"Uterine neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0009726","label":"Renal neoplasm","frequency":"Excluded (0%)","criteria":null}]}}