{"orpha":210136,"name":"Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210136/","orphanet_url":"https://www.orpha.net/en/disease/detail/210136","names":{"fr":{"name":"Syndrome de fibrose pulmonaire-hyperplasie hépatique-hypoplasie de la moelle osseuse","definition":"Maladie rare se manifestant par une fibrose pulmonaire idiopathique, une hyperplasie nodulaire régénérative hépatique entraînant une hypertension portale et une thrombocytopénie due à une hypoplasie médullaire. La maladie s'est avérée létale dans tous les cas rapportés."},"de":{"name":"Lungenfibrose - Leberhyperplasie - Knochenmarkhypoplasie","definition":"Lungenfibrose - Leberhyperplasie - Knochenmarkhypoplasie, auch ''Trimorphes Syndrom'' (d.h., 3 erbliche Störungen: Lunge, Leber, Zytopenie) genannt, wurde bisher nur in 4 Fällen beschrieben. Symptome sind idiopathische Lungenfibrose, nodulär-regenerative Hyperplasie der Leber mit Pfortaderhochdruck und Thrombozytopenie durch Knochenmark-Hypoplasie. Die Krankheit war in allen Fällen letal."},"es":{"name":"Síndrome de fibrosis pulmonar-hiperplasia hepática-hipoplasia de médula ósea","definition":"La fibrosis pulmonar - hiperplasia hepática - hipoplasia de médula ósea, también denominada ''síndrome trimorfo'' (p.e. tres morbilidades (hereditarias), pulmonar, hepática y citopenia), es una enfermedad poco frecuente descrita en 4 casos hasta la fecha, que se manifiesta con fibrosis pulmonar idiopática, hiperplasia regenerativa nodular hepática que da lugar a hipertensión portal y trombocitopenia por la hipoplasia en la médula ósea. La enfermedad estaba asociada con un 100% de mortalidad."},"it":{"name":"Fibrosi polmonare - iperplasia epatica - ipoplasia del midollo osseo","definition":"La fibrosi polmonare - iperplasia epatica - ipoplasia del midollo osseo, nota anche come ''sindrome trimorfica'' (tre morbidità [ereditarie], polmonare, epatica e citopenia), è una malattia rara descritta finora in 4 casi, che si presenta con fibrosi polmonare idiopatica, iperplasia rigenerativa nodulare epatica, che provoca ipertensione portale e trombocitopenia da ipoplasia del midollo osseo. La malattia comporta una mortalità del 100%."},"nl":{"name":"Longfibrose - leverhyperplasie - beenmerghypoplasie-syndroom","definition":"Een zeldzame aandoening, ook gekend als trimorf syndroom (i.e. drie (overgeërfde) morbiditeiten: pulmonaal, hepatisch en cytopenie), tot op heden gerapporteerd in 4 gevallen, en gekenmerkt door manifestatie met idiopathische longfibrose, hepatische nodulaire regeneratieve hyperplasie die leidt tot portale hypertensie, en trombocytopenie door hypoplasie van beenmerg. De aandoening werd geassocieerd met 100% mortaliteit."},"pt":{"name":"Fibrose pulmonar - hiperplasia hepática - hipoplasia de medula óssea"},"pl":{"name":"Włóknienie płuc - hiperplazja wątroby - hipoplazja szpiku kostnego"},"cs":{"name":"Syndrom zahrnující fibrózu plic, hyperplázii jater a hypoplázii kostní dřeně"},"uk":{"name":"Синдром легеневого фіброзу-гіперплазії печінки-гіпоплазії кісткового мозку","definition":"A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality."},"zh":{"name":"肺纤维化-肝增生-骨髓发育不全综合征","definition":"肺纤维化-肝增生-骨髓发育不良，也称为三体综合征（i.e.三种（遗传）疾病，肺，肝和血细胞减少），是一种罕见的疾病，迄今为止已报道了4例，其主要临床表现为特发性肺纤维症，肝结节再生导致门静脉高压和由于骨髓发育不全导致的血小板减少。该病死亡率100%。"},"tr":{"name":"Pulmoner fibroz-hepatik hiperplazi-kemik iliği hipoplazi sendromu"}},"xrefs":[{"source":"ICD-10","code":"J84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB99.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1843148386"},{"source":"MONDO","code":"0016214","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510085","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":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19401489[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19401489[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-19","source":"19401489[PMID]","terms":[{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011954","label":"Nodular regenerative hyperplasia of liver","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006707","label":"Abnormality of the hepatic vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030830","label":"Crackles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030829","label":"Abnormal breath sound","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001685","label":"Myocardial fibrosis","frequency":"Occasional (29-5%)","criteria":null}]}}