{"orpha":252206,"name":"Melanoma and neural system tumor syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Melanoma-astrocytoma syndrome"],"definition":"Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-252206/","orphanet_url":"https://www.orpha.net/en/disease/detail/252206","names":{"fr":{"name":"Syndrome mélanome-tumeur du système nerveux","synonyms":["Syndrome mélanome-astrocytome"],"definition":"Association de tumeurs extrêmement rare caractérisée par une prédisposition, à la fois, au mélanome et aux tumeurs du système nerveux (typiquement l'astrocytome)."},"de":{"name":"Melanom und Tumorsyndrom des Nervensystems","synonyms":["Melanom-Astrozytom-Syndrom"]},"es":{"name":"Síndrome de melanoma-tumor del sistema nervioso","synonyms":["Síndrome melanoma-astrocitoma"],"definition":"Es una asociación de tumores muy poco frecuente caracterizada por una doble predisposición al melanoma y tumores del sistema nervioso (típicamente astrocitoma)."},"it":{"name":"Sindrome melanoma-tumore del sistema nervoso","synonyms":["Sindrome melanoma-astrocitoma"],"definition":"Il melanoma associato ad un tumore del sistema nervoso è una sindrome neoplastica molto rara, caratterizzata sia dalla predisposizione al melanoma che ai tumori del sistema nervoso (di solito astrocitomi; si veda questo termine)."},"nl":{"name":"Melanoom en tumor van zenuwstelsel-syndroom","synonyms":["Melanoom - astrocytoom-syndroom"],"definition":"Melanoom en tumor van het zenuwstelsel-syndroom is een uiterst zeldzame associatie van tumoren, en wordt gekarakteriseerd door duale predispositie voor melanoom en tumoren van het zenuwstelsel (doorgaans astrocytoom; zie deze term)."},"pt":{"name":"Síndrome melanoma-tumor do sistema neural","synonyms":["Síndrome melanoma-astrocitoma"]},"pl":{"name":"Zespół czerniaka i guza układu nerwowego","synonyms":["Zespół czerniak-gwiaździak"]},"cs":{"name":"Sydrom zahrnující melanom a nádor nervového systému","synonyms":["Syndrom zahrnující melanom a astrocytom"]},"uk":{"name":"Меланома та синдром пухлин нервової системи","synonyms":["Синдром меланома-астроцитома"],"definition":"Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term)."},"zh":{"name":"黑色素瘤与神经系统肿瘤综合征","synonyms":["黑色素瘤-星形细胞瘤综合征"],"definition":"黑色素瘤和神经系统肿瘤综合征是一种极其罕见的肿瘤，其特征是具有黑色素瘤和神经系统肿瘤(尤其是星形细胞瘤，见该词条)的双重易感性。"},"tr":{"name":"Melanom ve sinir sistemi tümör sendromu","synonyms":["Melanom-astrositom sendromu"]}},"xrefs":[{"source":"OMIM","code":"155755","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D43","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0007967","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536149","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835042","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8468","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]}],"children":[],"genes":[{"symbol":"CDKN2A","name":"cyclin dependent kinase inhibitor 2A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11136714[PMID]","hgnc":"1787","ensembl":"ENSG00000147889","omim":"600160","loci":["9p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":49.0,"area":"Worldwide","status":"Validated","source":"8414022[PMID]_8635060[PMID]_37585199[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8414022[PMID]_8635060[PMID]_37585199[PMID]_ORPHANET"}],"phenotypes":null}