{"orpha":538,"name":"Lymphangioleiomyomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LAM"],"definition":"A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-538/","orphanet_url":"https://www.orpha.net/en/disease/detail/538","names":{"fr":{"name":"Lymphangioléiomyomatose","synonyms":["LAM"],"definition":"Maladie pulmonaire polykystique rare caractérisée par la destruction kystique progressive des poumons et par des anomalies lymphatiques souvent associées à des angiomyolipomes rénaux (AML)."},"de":{"name":"Lymphangioleiomyomatose","synonyms":["LAM"],"definition":"Eine seltene, multiple zystische Lungenerkrankung, die durch eine fortschreitende zystische Zerstörung der Lunge und lymphatische Anomalien gekennzeichnet ist und häufig mit renalen Angiomyolipomen (AML) einhergeht."},"es":{"name":"Linfangioleiomiomatosis","synonyms":["LAM"],"definition":"Es una enfermedad pulmonar quística múltiple poco frecuente caracterizada por la destrucción quística progresiva del pulmón y alteraciones linfáticas, frecuentemente asociadas con angiomiolipomas (AMLs) renales."},"it":{"name":"Linfangioleiomiomatosi","synonyms":["LAM"],"definition":"La linfangioleiomiomatosi (LAM) è una pneumopatia cistica multipla caratterizzata dalla distruzione cistica progressiva del polmone e da anomalie linfatiche, associate spesso ad angiolipomi renali (AML). Insorge sporadicamente oppure è un'espressione del complesso della sclerosi tuberosa (TSC)."},"nl":{"name":"Lymfangioleiomyomatose","synonyms":["LAM"],"definition":"Een zeldzame multipele cystische longziekte, gekenmerkt door progressieve cystische destructie van long en lymfatische afwijkingen, vaak geassocieerd met renale angiomyolipomen (AML's)."},"pt":{"name":"Linfangioleiomiomatose","synonyms":["LAM"],"definition":"Doença pulmonar quística múltipla rara, caracterizada por destruição quística progressiva do pulmão e anomalias linfáticas, frequentemente associada a angiomiolipomas renais (LMA)."},"pl":{"name":"Limfangioleiomiomatoza","synonyms":["LAM"]},"cs":{"name":"Lymfangioleiomyomatóza","synonyms":["LAM"]},"uk":{"name":"Лімфангіолейоміоматоз","synonyms":["LAM"],"definition":"A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs)."},"zh":{"name":"淋巴管肌瘤病","synonyms":["LAM"]},"tr":{"name":"Lenfanjiyoleyomiyomatoz","synonyms":["KUZU"]}},"xrefs":[{"source":"OMIM","code":"606690","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D48.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB07","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"902628446"},{"source":"MONDO","code":"0006277","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018192","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751674","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3319","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049459","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":264740,"name":"Primary interstitial lung disease specific to adulthood","classifications":[184,233]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]}],"children":[],"genes":[{"symbol":"TSC1","name":"TSC complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"17541983[PMID]","hgnc":"12362","ensembl":"ENSG00000165699","omim":"605284","loci":["9q34.13"]},{"symbol":"TSC2","name":"TSC complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"17541983[PMID]","hgnc":"12363","ensembl":"ENSG00000103197","omim":"191092","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0135,"area":"Worldwide","status":"Validated","source":"21764810[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Worldwide","status":"Validated","source":"21764810[PMID]_ ORPHANET_[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"United States","status":"Validated","source":"21764810[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"United States","status":"Validated","source":"21764810[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"France","status":"Validated","source":"10499073[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"Germany","status":"Validated","source":"21764810[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Canada","status":"Validated","source":"21764810[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"United Kingdom","status":"Validated","source":"21764810[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.32,"area":"Switzerland","status":"Validated","source":"21764810[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.39,"area":"New Zealand","status":"Validated","source":"21764810[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"Australia","status":"Validated","source":"21764810[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Netherlands","status":"Validated","source":"DOI:10.1517/21678707.2015.1022529[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Europe","status":"Validated","source":"21764810[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010310","label":"Chylothorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012798","label":"Pulmonary lymphangiomyomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006772","label":"Renal angiomyolipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100804","label":"Ungual fibroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012086","label":"Abnormal urinary color","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011852","label":"Chylopericardium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009726","label":"Renal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009594","label":"Retinal hamartoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009721","label":"Shagreen patch","frequency":"Occasional (29-5%)","criteria":null}]}}