{"orpha":440427,"name":"Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary pulmonary alveolar proteinosis with hepatic involvement","Interstitial lung and liver disease","PAP, Reunion island type","Pulmonary alveolar proteinosis, Reunion island type"],"definition":"A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440427/","orphanet_url":"https://www.orpha.net/en/disease/detail/440427","names":{"fr":{"name":"Protéinose alvéolaire pulmonaire sévère par déficit en MARS à début précoce","synonyms":["PAP de l'île de La Réunion","Protéinose alvéolaire pulmonaire de l'île de La Réunion","Protéinose alvéolaire pulmonaire héréditaire avec atteinte hépatique"],"definition":"Pneumopathie interstitielle rare d'origine génétique caractérisée par une accumulation de lipoprotéines dans les alvéoles pulmonaires, à l'origine d'une maladie pulmonaire restrictive et d'une insuffisance respiratoire. Les patients présentent une dyspnée, une tachypnée, une toux, un retard de croissance et un hippocratisme digital. Des cas de maladie hépatique ont été décrits chez certains patients, tels qu'une hépatomégalie, une stéatose, une fibrose ou une cirrhose."},"de":{"name":"Schwere früh-beginnende pulmonale Alveolarproteinose durch MARS-Mangel","synonyms":["Hereditäre pulmonale Alveolarproteinose mit Leberbeteiligung","Interstitielle Lungen- und Lebererkrankung","PAP, Insel Réunion-Typ","Pulmonale Alveolarproteinose vom Réunion Insel-Typ"],"definition":"Eine seltene, genetisch bedingte interstitielle Lungenerkrankung, die durch eine Anhäufung von Lipoproteinen in den Lungenbläschen gekennzeichnet ist und zu einer restriktiven Lungenerkrankung und respiratorischem Versagen führt. Die Patienten zeigen Dyspnoe, Tachypnoe, Husten, Gedeihstörung und digitale Keulenbildung. In einigen Fällen wurden Lebererkrankungen wie Hepatomegalie, Steatose, Fibrose oder Zirrhose beschrieben."},"es":{"name":"Proteinosis alveolar pulmonar grave por deficiencia de MARS de inicio en el adulto","synonyms":["Enfermedad pulmonar y hepática intersticial","PAP tipo isla de Reunión","Proteinosis alveolar pulmonar hereditaria con afectación hepática","Proteinosis alveolar pulmonar tipo isla de Reunión"],"definition":"Es una enfermedad pulmonar intersticial genética y poco frecuente caracterizada por el acúmulo de lipoproteínas en los alveolos pulmonares que evoluciona a enfermedad pulmonar restrictiva e insuficiencia respiratoria. Los pacientes presentan disnea, taquipnea, tos, fallo de medro y dedos hipocráticos. En algunos casos se ha descrito enfermedad hepática, incluyendo hepatomegalia, esteatosis, fibrosis o cirrosis."},"it":{"name":"Proteinosi alveolare polmonare grave a esordio precoce da deficit di MARS","synonyms":["Malattia epatica e polmonare interstiziale","PAP, tipo isola de La Réunion","Proteinosi alveolare polmonare ereditaria con coinvolgimento epatico","Proteinosi alveolare polmonare, tipo isola de La Réunion"],"definition":"È una pneumopatia interstiziale genetica rara, caratterizzata dall'accumulo di lipoproteine negli alveoli polmonari, che esita nella malattia polmonare restrittiva e nell'insufficienza respiratoria. I pazienti presentano dispnea, tachipnea, tosse, ritardo della crescita e ippocratismo digitale. Sono stati descritti pazienti con malattia epatica (epatomegalia, steatosi, fibrosi o cirrosi"},"nl":{"name":"Ernstige vroeg beginnende pulmonale alveolaire proteïnose door MARS-deficiëntie","synonyms":["Erfelijke pulmonale alveolaire proteïnose met hepatische betrokkenheid","Interstitiële long- en leverziekte","PAP, eiland Réunion-type","Pulmonale alveolaire proteïnose, eiland Réunion-type"],"definition":"Een zeldzame, genetische, interstitiële longziekte, gekarakteriseerd door accumulatie van lipoproteïnen in longblaasjes, wat leidt tot restrictieve longziekte en respiratoir falen. Patiënten vertonen dyspneu, tachypneu, hoest, groeifalen, en trommelstokvingers. In sommige gevallen werd leverziekte beschreven, waaronder hepatomegalie, steatose, fibrose of cirrose."},"pt":{"name":"Proteinose alveolar pulmonar grave com início precoce por défice de MARS"},"pl":{"name":"Ciężka płucna proteinoza pęcherzykowa o wczesnym pocztąku spowodowana niedoborem MARS","synonyms":["PAP, typ wyspy Reunion","Płucna proteinoza pęcherzykowa, typ wyspy Reunion","Śródmiąższowa choroba płuc i wątroby"]},"cs":{"name":"Těžká plicní alveolární proteinóza s časným nástupem způsobená deficitem MARS","synonyms":["Hereditání plicní alveolární proteinóza s postižením jater","Intersticiální choroba plic a jater","PAP, Typ ostrov Reunion","Plicní alveolární proteinóza, typ ostrov Reunion"]},"uk":{"name":"Тяжкий ранній легеневий альвеолярний протеїноз, зумовлений дефіцитомMARS","synonyms":["Спадковий альвеолярний протеїноз легень з ураженням печінки","Інтерстиціальні захворювання легень та печінки","PAP, острівний тип Реюньйон","Легеневий альвеолярний протеїноз, острівний тип Реюньйону"],"definition":"A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis."},"zh":{"name":"MARS缺乏所致严重早发性肺泡蛋白沉着症","synonyms":["遗传性肺泡蛋白沉着症伴肝脏累及"],"definition":"一种罕见的遗传性间质性肺疾病，其特征在于脂蛋白在肺泡中积聚，导致限制性肺病和呼吸衰竭。患者出现呼吸困难，呼吸急促，咳嗽，发育迟滞和杵状指。在某些情况下可出现肝脏疾病，包括肝肿大，脂肪变性，纤维化或肝硬化。"},"tr":{"name":"MARS eksikliğine bağlı ağır erken başlangıçlı pulmoner alveolar proteinoz","synonyms":["PAP, Reunion adası tipi","İnterstisyel akciğer ve karaciğer hastalığı","Pulmoner alveolar proteinoz, Reunion adası tipi","Karaciğer tutulumu ile seyreden kalıtsal pulmoner alveolar proteinoz"]}},"xrefs":[{"source":"OMIM","code":"615486","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J84.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB04.31","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014206","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225400","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":100049,"name":"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies","classifications":[156,184,233]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[{"symbol":"MARS1","name":"methionyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24103465[PMID]_25913036[PMID]","hgnc":"6898","ensembl":"ENSG00000166986","omim":"156560","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"25913036[PMID]_24103465[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"Source: 25913036[PMID]_24103465[PMID]_ORPHANET"}],"phenotypes":null}