{"orpha":618,"name":"Familial melanoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-618/","orphanet_url":"https://www.orpha.net/en/disease/detail/618","names":{"fr":{"name":"Mélanome malin familial","definition":"Forme héréditaire rare de mélanome caractérisée par le développement d'un mélanome, confirmé par examen histologique, chez au moins deux proches au premier degré d'une même famille."},"de":{"name":"Melanom, familiäres","definition":"Das familiäre Melanom (FM) ist eine seltene vererbte Form des Melanoms, die durch die Entwicklung eines histologisch bestätigten Melanoms bei zwei Verwandten ersten Grades oder mehr Verwandten in einer betroffenen Familie gekennzeichnet ist."},"es":{"name":"Melanoma familiar","definition":"Es una forma de melanoma hereditario poco frecuente caracterizado por el desarrollo de un melanoma confirmado histológicamente en dos o más familiares de primer grado en una misma familia."},"it":{"name":"Melanoma familiare","definition":"Il melanoma familiare (FM) è una forma ereditaria rara di melanoma, caratterizzata dallo sviluppo di melanomi, confermati con gli esami istologici, in due consanguinei di primo grado o in più consanguinei della stessa famiglia."},"nl":{"name":"Familiaal melanoom","definition":"Familiaal melanoom (FM) is een zeldzame, erfelijke vorm van melanoom die gekarakteriseerd wordt door de ontwikkeling van histologisch bevestigd melanoom in twee eerstegraadsverwanten of meer verwanten in een getroffen familie."},"pt":{"name":"Melanoma familiar"},"pl":{"name":"Czerniak rodzinny"},"cs":{"name":"Familiární maligní melanom"},"uk":{"name":"Сімейна меланома","definition":"Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family."},"zh":{"name":"家族性黑素瘤"},"tr":{"name":"ailesel melanom"}},"xrefs":[{"source":"OMIM","code":"155600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"155601","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"155700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608035","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609048","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613099","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613972","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615134","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615848","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C43.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C43.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C43.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C43.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C43.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C43.5","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C43.6","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C43.7","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C43.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"QC61.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2141838576"},{"source":"MONDO","code":"0018961","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1512419","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3460","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"CDKN2B","name":"cyclin dependent kinase inhibitor 2B","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"1788","ensembl":"ENSG00000147883","omim":"600431","loci":["9p21.3"]},{"symbol":"ACD","name":"ACD shelterin complex subunit and telomerase recruitment factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25431349[PMID]","hgnc":"25070","ensembl":"ENSG00000102977","omim":"609377","loci":["16q22.1"]},{"symbol":"BAP1","name":"BRCA1 associated deubiquitinase 1","gene_type":"gene with protein product","association":"Major 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in","status":"Assessed","source":"24238329[PMID]_24258989[PMID]","hgnc":"6929","ensembl":"ENSG00000258839","omim":"155555","loci":["16q24.3"]},{"symbol":"MGMT","name":"O-6-methylguanine-DNA methyltransferase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24801985[PMID]","hgnc":"7059","ensembl":"ENSG00000170430","omim":"156569","loci":["10q26.3"]},{"symbol":"MITF","name":"melanocyte inducing transcription factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25431349[PMID]","hgnc":"7105","ensembl":"ENSG00000187098","omim":"156845","loci":["3p13"]},{"symbol":"POT1","name":"protection of telomeres 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24686846[PMID]_24686849[PMID]","hgnc":"17284","ensembl":"ENSG00000128513","omim":"606478","loci":["7q31.33"]},{"symbol":"TERF2IP","name":"TERF2 interacting protein","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25431349[PMID]","hgnc":"19246","ensembl":"ENSG00000166848","omim":"605061","loci":["16q23.1"]},{"symbol":"TERT","name":"telomerase reverse transcriptase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23348503[PMID]","hgnc":"11730","ensembl":"ENSG00000164362","omim":"187270","loci":["5p15.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002861","label":"Melanoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006753","label":"Neoplasm of the stomach","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null}]}}