{"orpha":100049,"name":"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary ILD specific to childhood due to pulmonary surfactant protein anomalies"],"definition":"A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100049/","orphanet_url":"https://www.orpha.net/en/disease/detail/100049","names":{"fr":{"name":"Pneumopathie interstitielle primaire spécifique de l'enfance due à une anomalie des protéines du surfactant pulmonaire","synonyms":["ILD primaire spécifique de l'enfance due à une anomalie des protéines du surfactant pulmonaire"],"definition":"La pneumopathie interstitielle primaire spécifique de l'enfance due à une anomalie des protéines du surfactant pulmonaire est un groupe de pneumopathies interstitielles induites par des mutations génétiques perturbant la fonction du surfactant et des échanges gazeux dans le poumon. Les maladies causées par ces mutations touchent des nourrissons nés à terme et des enfants plus âgés, et elles exposent des recoupements considérables dans leurs manifestations cliniques et histologiques."},"de":{"name":"Primäre interstitielle Lungenerkrankung des Kindesalters durch pulmonale Surfactant-Protein-Anomalie","definition":"Die Primäre interstitielle Lungenerkrankung des Kindesalters durch Anomalien des Surfactantproteins der Lunge bezeichnet eine Gruppe interstitieller Lungenerkrankungen, bei denen durch genetische Mutationen die Produktion des Surfactantproteins und der Gasaustausch in der Lunge gestört sind. Betroffen sind zum Termin geborene Säuglinge und Kinder mit erheblicher Überschneidung der klinischen und histologischen Befunde."},"es":{"name":"Enfermedad pulmonar intersticial primaria específica de la infancia por anomalías de las proteinas surfactantes pulmonares","synonyms":["ILD primaria específica de la infancia por anomalías de las proteinas surfactantes pulmonares"],"definition":"Es un grupo de enfermedades pulmonares intersticiales (ILD, por sus siglas en inglés) inducidas por mutaciones genéticas que alteran la función de los surfactantes y el intercambio de gases en el pulmón. Las enfermedades causadas por estas mutaciones afectan a los bebés nacidos a término y a niños de mayor edad y muestran un considerable solapamiento en su presentación clínica e histológica."},"it":{"name":"Pneumopatia interstiziale primitiva specifica dell'infanzia da anomalie delle proteine del surfattante polmonare","synonyms":["ILD primitiva specifica dell'infanzia da anomalie delle proteine del surfattante polmonare"],"definition":"La pneumopatia interstiziale primitiva specifica dell'infanzia da anomalie della proteina del surfattante polmonare comprende un gruppo di pneumopatie interstiziali (ILD) indotte da mutazioni genetiche che interrompono la funzione del surfattante e lo scambio gassoso nei polmoni. I disturbi causati da queste mutazioni interessano i neonati a termine e i bambini più grandi e i loro quadri clinici e istologici si caratterizzano per una significativa sovrapposizione."},"nl":{"name":"Primaire interstitiële longziekte specifiek voor de kinderjaren door pulmonale surfactanteiwitanomalieën","synonyms":["Primaire ILD-specifiek voor de kinderjaren door pulmonale surfactanteiwitanomalieën"],"definition":"Een groep van interstitiële longziekten (ILD) geïnduceerd door genetische mutaties die de functie van surfactant en gaswisseling in de longen verstoren. De aandoeningen veroorzaakt door deze mutaties treffen voldragen baby's en oudere kinderen, en vertonen aanzienlijke overlap wat betreft hun klinische en histologische presentaties."},"pt":{"name":"Anomalias das proteínas surfactantes pulmonares"},"pl":{"name":"Pierwotna dziecięca choroba śródmiąższowa płuc spowodowana anomaliami białek surfaktantu","synonyms":["Pierwotna dziecięca ILD spowodowana anomaliami białek surfaktantu"]},"cs":{"name":"Primární dětská intersticiální plicní choroba způsobená anomálií proteinových komponent plicního surfaktantu","synonyms":["Primární ILD vyskytující se v dětství způsobená anomálií proteinových komponent plicního surfaktantu"]},"uk":{"name":"Первинне інтерстиціальне захворювання легень, специфічне для дитячого віку, зумовлене аномаліями білків легеневого сурфактанта","synonyms":["Первинна ILD, специфічна для дитячого віку, зумовлена аномаліями білків легеневого сурфактанта"],"definition":"A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation."},"zh":{"name":"肺表面活性物质蛋白异常所致儿童特发的原发性间质性肺疾病","synonyms":["肺表面活性物质蛋白异常所致儿童特发原发性ILD"],"definition":"肺表面活性物质蛋白异常致儿童特有的原发性间质性肺疾病是一组间质性肺疾病(ILD)，由基因突变引起，破坏肺表面活性物质功能和肺内气体交换。由这些突变引起的疾病影响足月儿和大龄儿童，在他们的临床和组织学表现上表现出相当大的重叠。"},"tr":{"name":"Pulmoner sürfaktan protein anomalilerine bağlı çocukluk çağı primer interstisyel akciğer hastalığı","synonyms":["Pulmoner sürfaktan protein anomalilerine bağlı olarak çocukluk dönemi primer İAH"]}},"xrefs":[{"source":"MONDO","code":"15052","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680383","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":264992,"name":"Genetic interstitial lung disease","classifications":[156]},{"orpha":264670,"name":"Primary interstitial lung disease specific to childhood due to alveolar structure disorder","classifications":[184,233]}],"children":[{"orpha":209905,"name":"Brain-lung-thyroid syndrome","type":"Disease"},{"orpha":264675,"name":"Hereditary pulmonary alveolar proteinosis","type":"Disease"},{"orpha":572428,"name":"Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia","type":"Disease"},{"orpha":440402,"name":"Interstitial lung disease due to ABCA3 deficiency","type":"Disease"},{"orpha":217563,"name":"Neonatal acute respiratory distress syndrome due to SP-B deficiency","type":"Disease"},{"orpha":440427,"name":"Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}