{"orpha":404560,"name":"Familial atypical multiple mole melanoma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["B-K mole syndrome","FAMM-PC syndrome","FAMMM syndrome","Familial atypical mole syndrome","Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome","Familial dysplastic nevus syndrome","Melanoma-pancreatic cancer syndrome"],"definition":"Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer and other malignancies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404560/","orphanet_url":"https://www.orpha.net/en/disease/detail/404560","names":{"fr":{"name":"Syndrome familial des naevus atypiques","synonyms":["Mélanomes atypiques multiples familiaux","Syndrome FAMM-PC","Syndrome FAMMM","Syndrome du naevus atypique","Syndrome familial des naevus dysplasiques","Syndrome mélanome-cancer pancréatique"],"definition":"Génodermatose héréditaire caractérisée par la présence de multiples naevus mélanocytaires (souvent >50) et par des antécédents familiaux de mélanome. Certains patients présentent un risque accru de développer un cancer du pancréas et d'autres tumeurs malignes."},"de":{"name":"Familiäres atpisches multiples Muttermal- und Melanomsyndrom","synonyms":["B-K Muttermal-Syndrom","FAMM-PC-Syndrom","FAMMM-Syndrom","Familiäres Clark-Nävus-Syndrom","Familiäres Melanom-Pankreaskrebs-Syndrom","Familiäres atpisches Naevus-Syndrom","Familiäres dysplastisches Nävus-Syndrom"],"definition":"Das familiäre atypische multiple Muttermal- und Melanomsyndrom (FAMMM-Syndrom) ist eine vererbte Genodermatose, die durch das Vorhandensein multipler melanozytärer Nävi (in der Regel > 50) sowie eine familiäre Melanomanamnese gekennzeichnet ist. Bei einer Untergruppe von Patienten besteht zudem ein erhöhtes Risiko für die Entwicklung von Bauchspeicheldrüsenkrebs und anderen malignen Erkrankungen."},"es":{"name":"Síndrome de melanoma familiar con lunares atípicos múltiples","synonyms":["Síndrome FAMM-PC","Síndrome FAMMM","Síndrome de lunar B-K","Síndrome de lunar atípico familiar","Síndrome de melanoma-cáncer pancreático","Síndrome de nevo displásico familiar","Síndrome familiar de melanoma y lunares múltiples atípicos-carcinoma pancreático"],"definition":"El síndrome FAMMM es una genodermatosis hereditaria caracterizada por la presencia de múltiples nevos melanocíticos (a menudo >50) y antecedentes familiares de melanoma así como, en un subgrupo de pacientes, con un mayor riesgo para desarrollar cáncer de páncreas y otros tumores malignos."},"it":{"name":"Sindrome da melanoma familiare con nevi multipli atipici","synonyms":["B-K mole syndrome","Sindrome FAMM-PC","Sindrome FAMMM","Sindrome familiare con mole-melanomi multipli atipici e tumore pancreatico","Sindrome familiare da mole atipiche","Sindrome familiare da nevi displastici","Sindrome familiare del nevo di Clark","Sindrome melanoma-tumore pancreatico"],"definition":"La sindrome da melanoma familiare con nevi multipli atipici (FAMMM) è una genodermatosi ereditaria caratterizzata dalla presenza di nevi melanocitici multipli (spesso oltre 50) e da un'anamnesi familiare positiva per il melanoma. Alcuni pazienti hanno un rischio maggiore di sviluppare un tumore del pancreas (si veda questo termine) e altri tumori maligni."},"nl":{"name":"Familiaal melanoom met atypische meervoudige moedervlekken-syndroom","synonyms":["B-K-moedervlek-syndroom","FAMM-PC-syndroom","FAMMM-syndroom","Familiaal melanoom met atypische meervoudige moedervlekken - pancreascarcinoom-syndroom","Familiale atypische moedervlek-syndroom","Familiale dysplastische naevus-syndroom","Melanoom - pancreaskanker-syndroom"],"definition":"Familiaal atypisch meervoudig moedervlek-melanoom (FAMMM)-syndroom is een erfelijke genodermatose die gekarakteriseerd wordt door de aanwezigheid van meerdere melanocytaire naevi (vaak >50) en een familiale geschiedenis van melanoom alsook, bij een deel van de patiënten, een verhoogd risico op de ontwikkeling van pancreaskanker (zie deze term) en andere maligniteiten."},"pt":{"name":"Síndrome atípico do melanoma de verrugas múltiplas familiar"},"pl":{"name":"Rodzinny zespół znamion dysplastycznych związanych z czerniakiem","synonyms":["Rodzinny zespół znamion atypowych","Rodzinny zespół znamion Clarka","Rodzinny zespół znamion dysplastycznych","Rodzinny zespół znamion dysplastycznych związanych z czerniakiem, z dodatkowo występującym rakiem trzustki","Zespół czerniaka i raka trzustki","Zespół FAMMM","Zespół FAMM-PC"]},"cs":{"name":"Syndrom zahrnující mnohočetné dysplastické névy/melanom a pankreatický karcinom","synonyms":["Syndrom B-K pigmentové skrvny","Syndrom FAMM-PC","FAMMM syndrom","Familiární syndrom s Clarkovými névy","Familiární syndrom s atypickými pigmentovými skvrnami","Syndrom zahrnující melanom a karcinom pankreatu","Syndrom familiárního melanomu","Syndrom familiárního melanomu (s dysplastickými névy či bez nich)","Familiární syndrom dysplastických névů"]},"uk":{"name":"Сімейний атиповий синдром множинної родимої меланоми","synonyms":["Синдром родимки B-K","Сімейний синдром атипових родимок","Сімейний атиповий синдром множинної родимки-меланоми та карциноми підшлункової залози","Сімейний синдром диспластичного невусу","Синдром FAMMM","Синдром FAMM-PC","Синдром меланоматозно-панкреатичного раку"],"definition":"Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies."},"zh":{"name":"家族性非典型多发性痣黑色素瘤综合征","synonyms":["家族性非典型多发性黑素瘤-胰腺癌综合征"],"definition":"家族性非典型多发性黑痣瘤（FAMMM）综合征是一种遗传性皮肤病，其特征是存在多发性黑素痣（通常 inf 50）和黑素瘤家族史，并且部分患者罹患胰腺癌（请参阅此术语）和其他恶性肿瘤的风险增加。"},"tr":{"name":"Ailesel atipik çoklu mol melanom sendromu","synonyms":["FAMMM sendromu","FAMM-PC sendromu","B-K mol sendromu","Ailesel atipik köstebek sendromu","Ailesel displastik nevüs sendromu","Melanom-pankreas kanseri sendromu","Ailesel atipik çoklu mol melanom-pankreas karsinom sendromu"]}},"xrefs":[{"source":"OMIM","code":"155600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606719","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C43.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018453","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2314896","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9281","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":51013,"name":"OBSOLETE: Melanoma-pancreatic cancer syndrome","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[{"symbol":"CDKN2A","name":"cyclin dependent kinase inhibitor 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21249757[PMID]","hgnc":"1787","ensembl":"ENSG00000147889","omim":"600160","loci":["9p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}