{"orpha":440402,"name":"Interstitial lung disease due to ABCA3 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency"],"definition":"A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440402/","orphanet_url":"https://www.orpha.net/en/disease/detail/440402","names":{"fr":{"name":"Pneumopathie interstitielle par déficit en ABCA3","definition":"Maladie respiratoire génétique rare caractérisée par une évolution clinique variable allant d'un syndrome de détresse respiratoire létal dans la période néonatale à une pneumopathie interstitielle chronique se développant dans la petite enfance ou l'enfance avec une toux chronique, une respiration rapide, un essoufflement et des infections pulmonaires récurrentes. Les manifestations cliniques de l'insuffisance respiratoire comprennent un grognement, des rétractions intercostales, un battement des ailes du nez, une cyanose et une dyspnée progressive."},"de":{"name":"Interstitielle Lungenerkrankung durch ABCA3-Mangel","synonyms":["Interstitielle Lungenerkrankung durch ABCA-3-Transporter-Defekt"]},"es":{"name":"Enfermedad pulmonar intersticial por deficiencia de ABCA3","synonyms":["Enfermedad pulmonar intersticial por deficiencia del cassette de unión al ATP, subfamilia A, miembro 3"],"definition":"Es una enfermedad respiratoria, genética y poco frecuente, caracterizada por un pronóstico clínico variable que fluctúa desde un síndrome de distress respiratorio fatal en el período neonatal, hasta el desarrollo de una enfermedad pulmonar intersticial crónica que se desarrolla en la lactancia o la infancia y que se presenta con tos crónica, taquipnea, disnea e infecciones pulmonares recurrentes. Las manifestaciones clínicas de la insuficiencia respiratoria incluyen quejidos, tiraje intercostal, aleteo nasal, cianosis y disnea progresiva."},"it":{"name":"Pneumopatia interstiziale da deficit di ABCA3","synonyms":["Malattia polmonare interstiziale da deficit di ATP-binding cassette subfamily A member 3"],"definition":"La pneumopatia interstiziale da deficit di ABCA3 è una malattia respiratoria genetica rara, caratterizzata da esiti clinici variabili, che vanno dalla sindrome da distress respiratorio letale nel neonato, fino alla pneumopatia interstiziale cronica, che esordisce nel periodo neonatale o infantile con tosse cronica, tachipnea, affanno ed infezioni polmonari ricorrenti. I segni clinici dell'insufficienza respiratoria comprendono il gemito respiratorio, la retrazione intercostale, l'allargamento delle narici durante la respirazione, la cianosi e la dispnea progressiva."},"nl":{"name":"Interstitiële longziekte door ABCA3-deficiëntie","synonyms":["Interstitiële longziekte door deficiëntie van ATP-binding cassette subfamilie A lid 3"],"definition":"Interstitiële longziekte door ABCA3-deficiëntie is een zeldzame, genetische respiratoire ziekte, en wordt gekarakteriseerd door een variabele klinische uitkomst, gaande van fataal ademnoodsyndroom in de neonatale periode tot chronische interstitiële longziekte die zich ontwikkelt in de zuigelingentijd of kindertijd met chronische hoest, snelle ademhaling, kortademigheid en recurrente pulmonale infecties. Klinische manifestaties van respiratoire insufficiëntie zijn onder meer grommen, intercostale retracties, trillende neusvleugels, cyanose, en progressieve dyspneu."},"pt":{"name":"Doença pulmonar intersticial por défice de ABCA3"},"pl":{"name":"Śródmiąższowa choroba płuc spowodowana niedoborem ABCA3","synonyms":["Śródmiąższowa choroba płuc spowodowana niedoborem członka 3 podrodziny A kasety wiążącej ATP"]},"cs":{"name":"Intersticiální plicní onemocnění způsobené deficitem ABCA3","synonyms":["Intersticiální plicní onemocnění způsobené deficitem ATP-binding cassette transporteru A3"]},"uk":{"name":"Інтерстиціальне захворювання легень, зумовлене дефіцитом ABCA3","synonyms":["Інтерстиціальне захворювання легень, спричинене дефіцитом члена 3 підродини АТФ-звязуючої касетної системи підродини А"],"definition":"A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."},"zh":{"name":"ABCA3缺乏所致间质性肺疾病","synonyms":["ATP结合盒亚家族A成员3缺乏导致的间质性肺病"],"definition":"由ABCA3缺乏引起的间质性肺病是一种罕见的遗传性呼吸系统疾病，其临床结果具有可变性，范围从新生儿期的致命性呼吸窘迫综合征到婴儿期或儿童期出现的慢性间质性肺病，表现为呼吸急促和复发性肺部感染。临床表现包括呼吸衰竭，呼噜声，肋间回缩，鼻扩张，发绀，和进行性呼吸困难。"},"tr":{"name":"ABCA3 eksikliğine bağlı interstisyel akciğer hastalığı","synonyms":["ATP bağlayıcı kaset A alt ailesi üyesi 3 eksikliğine bağlı interstisyel akciğer hastalığı"]}},"xrefs":[{"source":"OMIM","code":"610921","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB04.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1773020271"},{"source":"MONDO","code":"0012582","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567046","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970456","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":100049,"name":"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies","classifications":[156,184,233]}],"children":[],"genes":[{"symbol":"ABCA3","name":"ATP binding cassette subfamily A member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22018035[PMID]","hgnc":"33","ensembl":"ENSG00000167972","omim":"601615","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"15044640[PMID]_17719949[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"15044640[PMID]_17719949[PMID]_ORPHANET"}],"phenotypes":null}