{"orpha":572428,"name":"Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OAS1 deficiency","OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"],"definition":"A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-572428/","orphanet_url":"https://www.orpha.net/en/disease/detail/572428","names":{"fr":{"name":"Protéinose alvéolaire pulmonaire à début infantile-hypogammaglobulinémie","synonyms":["Déficit en OAS1","Protéinose alvéolaire pulmonaire à début infantile-hypogammaglobulinémie associée à OAS1"],"definition":"Maladie respiratoire rare d'origine génétique caractérisée par l'apparition infantile d'une protéinose alvéolaire pulmonaire associée à une hypogammaglobulinémie. À la naissance, les patients présentent une fonction respiratoire normale, mais développent par la suite des infections récurrentes, principalement virales, et une insuffisance respiratoire progressive, dont l'issue est souvent fatale au cours de la petite enfance ou de l'enfance. Les autres caractéristiques rapportées sont la leucocytose et la splénomégalie."},"de":{"name":"Pulmonale Alveolarproteinose-Hypogammaglobulinämie, infantile Form","synonyms":["OAS1-Defizienz","OAS1-assoziierte Pulmonale Alveolarproteinose-Hypogammaglobulinämie mit Beginn im Kleinkindalter"],"definition":"Eine seltene genetisch bedingte Atemwegserkrankung, bei der die pulmonale alveoläre Proteinose mit Hypogammaglobulinämie bereits im Kindesalter auftritt. Die Patienten haben bei der Geburt eine normale Atmungsfunktion, entwickeln dann aber wiederkehrende, hauptsächlich virale Infektionen und eine fortschreitende Ateminsuffizienz, die oft zum Tod im Säuglings- oder frühen Kindesalter führt. Als weitere Merkmale werden Leukozytose und Splenomegalie berichtet."},"es":{"name":"Proteinosis alveolar pulmonar-hipogammaglobulinemia de inicio en el lactante","synonyms":["Deficiencia de OAS1","Proteinosis alveolar pulmonar-hipogammaglobulinemia en el lactante asociada a OAS1"],"definition":"Es una enfermedad respiratoria de base genética poco frecuente caracterizada por proteinosis alveolar pulmonar con hipogammaglobulinemia de inicio en la lactancia. Los pacientes presentan una función respiratoria normal al nacimiento, aunque posteriormente desarrollan infecciones recurrentes, principalmente virales, e insuficiencia respiratoria progresiva, ocasionando, a menudo, el fallecimiento en la lactancia o en la primera infancia. Otros hallazgos descritos son leucocitosis y esplenomegalia."},"it":{"name":"Proteinosi alveolare polmonare ad esordio infantile-ipogammaglobulinemia","synonyms":["Deficit di OAS1","Proteinosi alveolare polmonare ad esordio infantile con ipogammaglobulinemia correlata a OAS1"],"definition":"Si tratta di una malattia respiratoria genetica rara, caratterizzata da proteinosi degli alveoli polmonari ad esordio infantile associata a ipogammaglobulinemia. I pazienti presentano una funzione respiratoria normale alla nascita, ma successivamente sviluppano infezioni ricorrenti, per lo più virali, e insufficienza respiratoria progressiva, che spesso causa la morte nel periodo neonatale o nella prima infanzia. I pazienti possono presentare anche leucocitosi e splenomegalia."},"nl":{"name":"Pulmonale alveolaire proteïnose met infantiele aanvang - hypogammaglobulinemie","synonyms":["OAS1-deficiëntie","OAS1-gerelateerde pulmonale alveolaire proteïnose met infantiele aanvang - hypogammaglobulinemie"],"definition":"Een zeldzame, genetische respiratoire aandoening, gekarakteriseerd door infantiele aanvang van pulmonale alveolaire proteïnose met hypogammaglobulinemie. Patiënten hebben een normale ademhalingsfunctie bij de geboorte, maar ontwikkelen vervolgens recidiverende, voornamelijk virale, infecties en progressief respiratoir falen, vaak met dood in de zuigelingentijd of vroege kindertijd tot gevolg. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer leukocytose en splenomegalie."},"pt":{"name":"Proteinose alveolar pulmonar de início na infância-hipogamaglobulinémia"},"pl":{"name":"Proteinoza pęcherzyków płucnych i hipogammaglobulinemia o początklu w niemowlęctwie","synonyms":["Proteinoza pęcherzyków płucnych i hipogammaglobulinemia o początklu w niemowlęctwie związana z OAS1"]},"cs":{"name":"Plicní alveolární proteinóza a hypogamaglobulinémie s nástupem v dětském věku","synonyms":["OAS1 deficiency","OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"]},"uk":{"name":"Інфантильний легеневий альвеолярний протеїноз - гіпогаммаглобулінемія, що починається в дитинстві","synonyms":["Дефіцит OAS1","Повязаний з OAS1 інфантильний легеневий альвеолярний протеїноз-гіпогаммаглобулінемія"],"definition":"A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly."},"zh":{"name":"婴儿肺泡蛋白沉积-低丙球蛋白血症","synonyms":["OAS1基因缺陷"]},"tr":{"name":"İnfantil-başlangıçlı pulmoner alveolar proteinozis-hipogamaglobulinemi","synonyms":["OAS1-ilişkili infantil başlangıçlı pulmoner alveolar proteinozis-hipogamaglobulinemi","OAS1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"618042","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":"0035529","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680364","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":100049,"name":"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies","classifications":[156,184,233]}],"children":[],"genes":[{"symbol":"OAS1","name":"2'-5'-oligoadenylate synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29455859[PMID]_31953170[PMID]","hgnc":"8086","ensembl":"ENSG00000089127","omim":"164350","loci":["12q24.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"29455859[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29455859[PMID]"}],"phenotypes":null}