{"orpha":389,"name":"Langerhans cell histiocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Histiocytosis X","Langerhans cell granulomatosis"],"definition":"A rare systemic disease characterized by the accumulation (usually organized in granulomas) of macrophage, bearing the features of Langerhans cells in various tissues.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-389/","orphanet_url":"https://www.orpha.net/en/disease/detail/389","names":{"fr":{"name":"Histiocytose langerhansienne","synonyms":["Granulomatose à cellules de Langerhans","Histiocytose X"],"definition":"Maladie systémique rare caractérisée par l'accumulation (généralement organisée en granulomes) de macrophages présentant les caractéristiques des cellules de Langerhans dans divers tissus."},"de":{"name":"Langerhans-Zell-Histiozytose","synonyms":["Histiozytose X","Langerhans-Zell-Granulomatose"],"definition":"Eine seltene Systemerkrankung, die durch die Anhäufung (in der Regel in Form von Granulomen) von Makrophagen, die die Merkmale von Langerhans-Zellen tragen, in verschiedenen Geweben gekennzeichnet ist."},"es":{"name":"Histiocitosis de células de Langerhans","synonyms":["Granulomatosis de células de Langerhans"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por el acúmulo (normalmente organizado en granulomas) de macrófagos con características de células de Langerhans en diversos tejidos."},"it":{"name":"Istiocitosi a cellule di Langerhans","synonyms":["Granulomatosi a cellule di Langerhans","Istiocitosi X"]},"nl":{"name":"Langerhanscelhistiocytose","synonyms":["Histiocytose X","Langerhanscelgranulomatose"],"definition":"Een zeldzame systemische aandoening, gekenmerkt door accumulatie (meestal georganiseerd in granulomen) van macrofagen, die de kenmerken dragen van langerhanscellen, in verschillende weefsels."},"pt":{"name":"Histiocitose de células de Langerhans","synonyms":["Granulomatose de células de Langerhans","Histiocitose X"],"definition":"Doença sistémica rara caracterizada pela acumulação (geralmente organizada em granulomas) de macrófagos, com características de células de Langerhans, em vários tecidos."},"pl":{"name":"Histiocytoza z komórek Langerhansa","synonyms":["Histiocytoza X","Ziarniniakowatość komórek Langerhansa"]},"cs":{"name":"Hystiocytóza z Langerhansových buněk","synonyms":["Histiocytóza X","Granulomatóza z Langerhansových buněk"]},"uk":{"name":"Гістіоцитоз клітин Лангерганса","synonyms":["Гістіоцитоз X","Гранулематоз з клітинами Лангерганса"],"definition":"A rare systemic disease characterized by the accumulation (usually organized in granulomas) of macrophage, bearing the features of Langerhans cells in various tissues."},"zh":{"name":"朗格罕细胞组织细胞增生症","synonyms":["朗格汉斯细胞肉芽肿病"]},"tr":{"name":"Langerhans hücreli histiyositoz","synonyms":["Histiyositoz X","Langerhans hücreli granülomatoz"]}},"xrefs":[{"source":"OMIM","code":"604856","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C96.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"C96.5","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"C96.6","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2B31.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"216625985"},{"source":"ICD-11","code":"2B31.20","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"2119495866"},{"source":"ICD-11","code":"2B31.2Y","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018310","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006646","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0019621","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6858","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069698","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99870,"name":"OBSOLETE: Letterer-Siwe disease","status":"inactive"},{"type":"Referred to","orpha":99871,"name":"OBSOLETE: Eosinophilic granuloma","status":"inactive"},{"type":"Referred to","orpha":99872,"name":"OBSOLETE: Hashimoto-Pritzker syndrome","status":"inactive"},{"type":"Referred to","orpha":99873,"name":"OBSOLETE: Hand-Schüller-Christian disease","status":"inactive"},{"type":"Referred to","orpha":99874,"name":"OBSOLETE: Adult pulmonary Langerhans cell histiocytosis","status":"inactive"},{"type":"Referred to","orpha":264724,"name":"OBSOLETE: Langerhans cell histiocytosis specific to childhood","status":"inactive"},{"type":"Referred to","orpha":264750,"name":"OBSOLETE: Langerhans cell histiocytosis specific to adulthood","status":"inactive"},{"type":"Referred to","orpha":264955,"name":"OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98289,"name":"Dendritic cell tumor","classifications":[194,202,233]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[{"orpha":687741,"name":"Multisystem Langerhans cell histiocytosis","type":"Clinical subtype"},{"orpha":687733,"name":"Pulmonary Langerhans cell histiocytosis","type":"Clinical subtype"},{"orpha":687738,"name":"Single-system multifocal Langerhans cell histiocytosis","type":"Clinical subtype"},{"orpha":687730,"name":"Unifocal Langerhans cell histiocytosis","type":"Clinical subtype"}],"genes":[{"symbol":"MAP2K1","name":"mitogen-activated protein kinase kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26980021[PMID]","hgnc":"6840","ensembl":"ENSG00000169032","omim":"176872","loci":["15q22.31"]},{"symbol":"NRAS","name":"NRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27076591[PMID]","hgnc":"7989","ensembl":"ENSG00000213281","omim":"164790","loci":["1p13.2"]}],"genes_via_subtypes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22996177[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"],"via":{"orpha":687730,"name":"Unifocal Langerhans cell histiocytosis"}},{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22996177[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"],"via":{"orpha":687733,"name":"Pulmonary Langerhans cell histiocytosis"}},{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22996177[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"],"via":{"orpha":687738,"name":"Single-system multifocal Langerhans cell histiocytosis"}},{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22996177[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"],"via":{"orpha":687741,"name":"Multisystem Langerhans cell histiocytosis"}}],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-14","source":"32106306[PMID]_29754885[PMID]_27273725[PMID]_34105821[PMID]","terms":[{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003249","label":"Genital ulcers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034769","label":"Pulmonary Langerhans cell histiocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034323","label":"Reduced circulating growth hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002108","label":"Spontaneous pneumothorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030991","label":"Sclerosing cholangitis","frequency":"Very rare (<4-1%)","criteria":null}]}}