{"orpha":252202,"name":"Constitutional mismatch repair deficiency syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMMR-D syndrome"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-252202/","orphanet_url":"https://www.orpha.net/en/disease/detail/252202","names":{"fr":{"name":"Syndrome de déficit constitutionnel de la réparation des mésappariements","definition":"Un syndrome rare et héréditaire de prédisposition au cancer, caractérisé par le développement d'un large spectre de tumeurs malignes pendant l'enfance, surtout des cancers cérébraux, hématologiques et gastro-intestinaux, mais des tumeurs embryonnaires ou d'autres types de tumeur ont parfois été rapportés. Des manifestations non néoplasiques sont souvent présentes avant le développement de la malignité, principalement des signes rappelant une neurofibromatose de type 1 (comme des taches café au lait, des taches de rousseur, un neurofibrome), ainsi que des lésions pré-malignes et non malignes (comme des adénomes/polypes)."},"de":{"name":"Mismatch-Reparatur-Defizienz-Syndrom, konstitutionelles","synonyms":["CMMR-D-Syndrom"],"definition":"Das konstitutionelle Mismatch-Reparatur-Defizienz-Syndrom ist ein seltenes, vererbtes krebsprädisponierendes Syndrom, das durch die Entwicklung eines breiten Spektrums von Malignomen im Kindesalter gekennzeichnet ist, darunter hauptsächlich Hirntumore, hämatologische und gastrointestinale Karzinome, obwohl gelegentlich auch embryonale und andere Tumore berichtet wurden. Nicht-neoplastische Merkmale, insbesondere Manifestationen, die an Neurofibromatose Typ 1 erinnern (z. B. Café-au-lait-Flecken, Sommersprossen, Neurofibrome), sowie prämaligne und nicht-maligne Läsionen (z. B. Adenome/Polyps) sind häufig vor der Entwicklung von Malignomen vorhanden."},"es":{"name":"Síndrome constitucional de deficiencia de reparación de errores de emparejamiento","definition":"El síndrome constitutivo de deficiencia de reparación de errores de emparejamientos erróneos es un síndrome poco frecuente de predisposición al cáncer hereditario, caracterizado por el desarrollo de un amplio espectro de neoplasias durante la infancia, que incluyen principalmente cánceres cerebrales, hematológicos y gastrointestinales, aunque ocasionalmente se han notificado tumores embrionarios y de otros tipos. Con frecuencia, los afectados presentan características no neoplásicas antes del desarrollo de la neoplasia, en particular signos parecidos a neurofibromatosis tipo 1 (p. ej., manchas café con leche, pecas, neurofibromas), así como lesiones premalignas y benignas (tales como adenomas/pólipos)."},"it":{"name":"Sindrome da deficit congenito del sistema di riparazione malappaiamenti","definition":"La sindrome da deficit congenito del sistema di riparazione dei malappaiamenti è una malattia rara ereditaria, che predispone ai tumori, caratterizzata dallo sviluppo di un'ampia serie di tumori maligni durante l'infanzia, di solito cerebrali, ematologici e gastrointestinali. Sono stati descritti rari pazienti con tumori embrionali ed altri tipi di tumore. Prima della comparsa del tumore, spesso si rilevano caratteristiche non neoplastiche, in particolare alcuni segni clinici che ricordano la neurofibromatosi tipo 1 (macchie caffè-latte, lentigginosi e neurofibromi) e lesioni pre-maligne e non maligne (adenomi/polipi)."},"nl":{"name":"Constitutionele 'mismatch repair'-deficiëntie-syndroom","synonyms":["CMMR-D-syndroom"],"definition":"Constitutionele mismatch-repair-deficiëntiesyndroom is een zeldzaam, erfelijk kankerpredispositiesyndroom dat gekarakteriseerd wordt door de ontwikkeling van een breed spectrum van maligniteiten tijdens de kindertijd, waaronder voornamelijk hersenkankers, hematologische kankers en gastro-intestinale kankers, hoewel embryonale en andere tumoren ook reeds occasioneel werden gerapporteerd. Niet-neoplastische kenmerken, vooral dan manifestaties die doen denken aan neurofibromatose type 1 (e.g. café-au-lait vlekken, sproetvorming, neurofibromen), alsook premaligne en niet-maligne laesies (zoals adenomen/poliepen) zijn frequent aanwezig voor de ontwikkeling van maligniteiten."},"pt":{"name":"Síndrome de deficiência constitucional da reparação dos erros de emparelhamento","synonyms":["Síndrome CMMR-D"]},"pl":{"name":"Constitutional mismatch repair deficiency syndrome","synonyms":["Zespół CMMR-D"]},"cs":{"name":"Syndrom konstitučního deficitu mismatch repair mechanismů","synonyms":["CMMR-D syndrom"]},"uk":{"name":"Синдром дефіциту репарації конституціональної невідповідності","synonyms":["Синдром CMMR-D"],"definition":"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."},"zh":{"name":"体质性错配修复缺失综合征","synonyms":["CMMR-D综合征"],"definition":"组织错配修复缺陷综合征是一种罕见的遗传性癌症易感综合征，其特征是在儿童时期发生广泛的恶性肿瘤，主要包括脑癌、血液癌和胃肠道癌，尽管偶尔也会有胚胎和其他肿瘤的报道。非肿瘤性特征，特别是使人联想到1型神经纤维瘤病的表现（(如咖啡斑、雀斑、神经纤维瘤)），以及癌前病变和非癌性病变(如腺瘤/息肉)通常在恶变发展之前出现。"},"tr":{"name":"Yapısal uyumsuzluk onarım eksikliği sendromu","synonyms":["CMMR-D sendromu"]}},"xrefs":[{"source":"OMIM","code":"276300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619096","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619097","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619101","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"31219","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4321324","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":331240,"name":"Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells","classifications":[156,195,233]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]}],"children":[],"genes":[{"symbol":"MLH1","name":"mutL homolog 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20442441[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":"20442441[PMID]_23483711[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":"20442441[PMID]_23483711[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":"20442441[PMID]_23483711[PMID]","hgnc":"9122","ensembl":"ENSG00000122512","omim":"600259","loci":["7p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}