{"orpha":523,"name":"Hereditary leiomyomatosis and renal cell cancer","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial leiomyomatosis and renal cell cancer","Familial leiomyomatosis cutis et uteri","Familial leiomyomatosis with renal carcinoma","Familial multiple cutaneous leiomyomas","HLRCC","Hereditary leiomyomatosis","Hereditary leiomyomatosis with renal carcinoma","Hereditary multiple cutaneous leiomyomas","MCUL","Multiple cutaneous and uterine leiomyomas","Reed syndrome"],"definition":"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-523/","orphanet_url":"https://www.orpha.net/en/disease/detail/523","names":{"fr":{"name":"Léiomyomatose familiale et cancer du rein","synonyms":["HLRCC","Leiomyomes cutanés multiples familiaux","Leiomyomes cutanés multiples héréditaires","Léiomyomatose héréditaire","Léiomyomes cutanés et utérins multiples","MCUL","Syndrome de Reed","Syndrome de léiomyomatose héréditaire-cancer du rein"],"definition":"La léiomyomatose familiale et cancer du rein (HLRCC) est un syndrome cancéreux héréditaire caractérisé par une prédisposition à des léiomyomes utérins et cutanés, et chez certaines familles, au cancer du rein."},"de":{"name":"Hereditäre Leiomyomatose mit Nierenzellkrebs","synonyms":["Familiäre Leiomyomatose mit renalem Karzinom","Familiäre multiple kutane Leiomyome","HLRCC","Hereditäre multiple kutane Leiomyome","Leiomyomatose, hereditäre","Leiomyome, kutane multiple, familiäre Form","MCUL","Multiple Leiomyome, kutane und uterine","Reed-Syndrom"]},"es":{"name":"Leiomiomatosis hereditaria y carcinoma de células renales","synonyms":["HLRCC","Leiomiomas cutáneos múltiples familiares","Leiomiomas cutáneos múltiples hereditarios","Leiomiomas cutáneos y uterinos múltiples","Leiomiomatosis familiar con carcinoma renal","Leiomiomatosis familiar con cáncer de células renales","Leiomiomatosis familiar cutánea y uterina","Leiomiomatosis hereditaria","Leiomiomatosis hereditaria con carcinoma renal","MCUL","Síndrome de Reed"],"definition":"Es un síndrome de cáncer hereditario caracterizado por una predisposición a los leiomiomas cutáneos y uterinos y, en algunas familias, al carcinoma de células renales."},"it":{"name":"Leiomiomatosi ereditaria e tumore a cellule renali","synonyms":["HLRCC","Leimiomi uterini e cutanei multipli","Leiomiomatosi cutanea e uterina familiare","Leiomiomatosi ereditaria","Leiomiomatosi ereditaria con cancro a cellule renali","Leiomiomatosi familiare con cancro a cellule renali","Leiomiomatosi familiare con carcinoma renale","Leiomiomatosi familiare e cancro a cellule renali","Leiomiomi cutanei multipli ereditari","Leiomiomi cutanei multipli familiari","MCUL","Sindrome di Reed"]},"nl":{"name":"Erfelijke leiomyomatose en niercelkanker","synonyms":["Erfelijke leiomyomatose","Erfelijke leiomyomatose en renale celkanker","Erfelijke leiomyomatose met niercarcinoom","Erfelijke leiomyomatose met niercelkanker","Erfelijke meervoudige cutane leiomyomen","Familiale leiomyomatose cutis et uteri","Familiale leiomyomatose met niercarcinoom","Familiale leiomyomatose met niercelkanker","Familiale meervoudige cutane leiomyomen","HLRCC","MCUL","Meervoudige cutane en uteriene leiomyomen","Syndroom van Reed"],"definition":"Erfelijke leiomyomatose en renale celkanker (HLRCC) is een erfelijk kankersyndroom dat gekarakteriseerd wordt door een aanleg voor leiomyomen van de huid en de baarmoeder, en in sommige families voor niercelkanker."},"pt":{"name":"Leiomiomatose hereditária e cancro das células renais","synonyms":["Leiomiomas cutâneos múltiplos, familiar","Leiomiomatose familiar"]},"pl":{"name":"Dziedziczna leiomiomatoza z rakiem komórkowym nerki","synonyms":["Dziedziczna leiomiomatoza z rakiem nerki","Dziedziczne mnogie mięśniaki gładkokomórkowe skóry","HLRCC","Leiomiomatoza dziedziczna","MCUL","Mnogie mięśniaki gładkokomórkowe skóry i macicy","Rodzinna leiomiomatoza skóry i macicy","Rodzinna leiomiomatoza z rakiem komórkowym nerki","Rodzinna leiomiomatoza z rakiem nerki","Rodzinne mnogie mięśniaki gładkokomórkowe skóry","Zespół Reed"]},"cs":{"name":"Hereditární leiomyomatóza a renální nádor","synonyms":["Familiární leiomyomatóza a renální nádor","Familiární leiomyomatóza s renálním karcinomem","HLRCC","Hereditární leiomyomatóza","Hereditární leiomyomatóza s renálním karcinomem","MCUL","Familiární kožní a děložní leiomyomatóza","Familiární mnohočetná kožní leiomyomatóza","Hereditární mnohočetná kožní leiomyomatóza","Mnohočetná kožní a děložní leiomyomatóza","Reedův syndrom"]},"uk":{"name":"Спадковий лейоміоматоз та нирковоклітинний рак","synonyms":["Сімейний лейоміоматоз та нирковоклітинний рак","Сімейний лейоміоматоз шкірних покривів та матки","Сімейний лейоміоматоз з карциномою нирки","Сімейні множинні шкірні лейоміоми","Спадковий лейоміоматоз","Спадковий лейоміоматоз з карциномою нирки","Спадкові множинні шкірні лейоміоми","HLRCC","MCUL","Множинні шкірні та маткові лейоміоми","Синдром Ріда"],"definition":"Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer."},"zh":{"name":"遗传性肌瘤病及肾细胞癌综合征","synonyms":["遗传性肌瘤病伴肾细胞癌"]},"tr":{"name":"Kalıtsal leiomyomatoz ve renal hücre kanseri","synonyms":["MCUL","HLRCC","Reed sendromu","Kalıtsal leiomyomatoz","Ailesel leiomyomatozis kutis ve uteri","Ailesel çoklu kutanöz leiomyomlar","Kalıtsal çoklu kutanöz leiomyomlar","Çoklu kutanöz ve uterin leiomyomlar","Renal karsinomlu ailesel leiomyomatoz","Ailesel leiomyomatoz ve renal hücre kanseri","Renal karsinomlu kalıtsal leiomyomatoz"]}},"xrefs":[{"source":"OMIM","code":"150800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"754002573"},{"source":"MONDO","code":"0007888","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535516","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1708350","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10096","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077859","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":589746,"name":"Inherited gynecological cancer-predisposing syndrome","classifications":[156,202]},{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[{"symbol":"FH","name":"fumarate hydratase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15937070[PMID]_21398687[PMID]","hgnc":"3700","ensembl":"ENSG00000091483","omim":"136850","loci":["1q43"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Elderly"],"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":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007620","label":"Cutaneous leiomyoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007437","label":"Multiple cutaneous leiomyomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100580","label":"Barrett esophagus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100751","label":"Esophageal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006732","label":"Papillary renal cell carcinoma type 2","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000131","label":"Uterine leiomyoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002891","label":"Uterine leiomyosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100650","label":"Vaginal neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}