{"orpha":528091,"name":"Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-528091/","orphanet_url":"https://www.orpha.net/en/disease/detail/528091","names":{"fr":{"name":"Syndrome d'anasarque-acidose lactique-anémie sidéroblastique-défaillance multisystémique","definition":"Maladie mitochondriale rare caractérisée par des complications prénatales, notamment un oligohydramnios, un retard de croissance foetale, une anasarque et une anémie, suivies d'une acidose lactique sévère, d'une maladie des membranes hyalines, d'une hypertension pulmonaire, de malformations cardiaques, d'un dysfonctionnement hépatique, de malformations urogénitales et d'une maladie rénale progressive, de convulsions, d'une thrombocytopénie et d'une anémie sidéroblastique causant une défaillance multisystémique des organes et le décès peu après la naissance. Des cas de patients moins gravement atteints, survivant à la période néonatale et présentant une perte auditive neurosensorielle et un retard de développement, ont été rapportés."},"de":{"name":"Hydrops-Laktatazidose-sideroblastische Anämie-Multisystemversagen-Syndrom","definition":"Eine seltene mitochondriale Erkrankung mit pränatalen Komplikationen wie Oligohydramnion, fetaler Wachstumsretardierung, Hydrops und Anämie, gefolgt von schwerer Laktatazidose, hyaliner Membrankrankheit, pulmonaler Hypertonie, Herzanomalien, Leberfunktionsstörungen, urogenitalen Anomalien und progressiver Niereninsuffizienz, Krampfanfällen, Thrombozytopenie und sideroblastischer Anämie, die zu Multiorganversagen und Tod kurz nach der Geburt führen. Es wurde über weniger schwer betroffene Patienten berichtet, die die Neugeborenenperiode überlebten und einen sensorineuralen Hörverlust und Entwicklungsverzögerungen aufwiesen."},"es":{"name":"Síndrome de hidropesía-acidosis láctica-anemia sideroblástica-fallo multisistémico","definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por complicaciones prenatales que incluyen oligohidramnios, restricción del crecimiento fetal, hidrops y anemia, seguido de acidosis láctica grave, enfermedad de las membranas hialinas, hipertensión pulmonar, anomalías cardíacas, disfunción hepática, anomalías urogenitales y enfermedad renal progresiva, crisis, trombocitopenia y anemia sideroblástica que provoca fallo orgánico multisistémico, y fallecimiento poco después del nacimiento. También se han descrito casos de pacientes menos gravemente afectados con pérdida auditiva neurosensorial y retraso del desarrollo que sobrevivieron al período neonatal."},"it":{"name":"Sindrome idrope - acidosi lattica - anemia sideroblastica - insufficienza multisistemica","definition":"Si tratta di una malattia mitocondriale rara, caratterizzata da complicanze prenatali che comprendono l'oligoidramnios, il ritardo della crescita prenatale, l'idrope e l'anemia, seguiti da acidosi lattica grave, malattia delle membrane ialine, ipertensione polmonare, cardiopatie, disfunzione epatica, anomalie urogenitali, malattia renale progressiva, crisi epilettiche, trombocitopenia e anemia sideroblastica, con conseguente insufficienza multiorgano e morte subito dopo la nascita. Sono stati descritti pazienti affetti da una forma meno grave sopravvissuti al periodo neonatale, che presentano sordità neurosensoriale e ritardo dello sviluppo."},"nl":{"name":"Hydrops - lactaatacidose - sideroblastische anemie - multisysteemfalen-syndroom","definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door prenatale complicaties waaronder oligohydramnion, foetale groeirestrictie, hydrops en anemie, gevolgd door ernstige lactaatacidose, aandoening van hyaliene membraan (neonataal 'respiratory distress' syndroom), pulmonale hypertensie, hartanomalieën, leverdisfunctie, urogenitale anomalieën en progressieve nierziekte, insulten, trombocytopenie, en sideroblastische anemie resulterend in multisystemisch orgaanfalen en sterfte kort na de geboorte. Er werden ook minder ernstig getroffen patiënten gerapporteerd die de neonatale periode overleven en sensorineuraal gehoorverlies en ontwikkelingsachterstand vertonen."},"pt":{"name":"Síndrome de hidrópsia-acidose láctica-anemia sideroblástica-falência multissistémica"},"pl":{"name":"Zespół obrzęku-kwasicy mleczanowej-anemii syderoblastycznej-niewydolności wielonarządowej"},"cs":{"name":"Syndrom zahrnující hydrops, laktátovou acidózu, sideroblastickou anémii a multisystémové selhání"},"uk":{"name":"Синдром водянки-молочнокислого ацидозу-сидеробластної анемії-полісистемної недостатності","definition":"A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported."},"zh":{"name":"水肿-乳酸酸中毒-铁粒幼细胞性贫血-多系统衰竭综合征","definition":"一种罕见的线粒体疾病，其特点是产前并发症包括羊水过少、胎儿生长受限、水肿和贫血，随后出现严重的乳酸酸中毒、透明膜病、肺动脉高压、心脏畸形、肝功能障碍、泌尿生殖系统异常和进行性肾脏疾病、癫痫发作、血小板减少和铁粒幼细胞性贫血，导致多系统器官衰竭，出生后不久死亡。有报道称，受影响较轻的患者可在新生儿期存活下来，但会出现感音神经性听力损失和发育迟缓。"},"tr":{"name":"Hidrops-laktik asidoz-sideroblastik anemi-multisistemik yetmezlik sendromu"}},"xrefs":[{"source":"OMIM","code":"617021","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014869","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"LARS2","name":"leucyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"26537577[PMID]","hgnc":"17095","ensembl":"ENSG00000011376","omim":"604544","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"26537577[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26537577[PMID]"}],"phenotypes":null}