{"orpha":440392,"name":"Interstitial lung disease due to SP-C deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Interstitial lung disease due to surfactant protein C deficiency"],"definition":"A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440392/","orphanet_url":"https://www.orpha.net/en/disease/detail/440392","names":{"fr":{"name":"Pneumopathie interstitielle par déficit en SP-C","synonyms":["Pneumopathie interstitielle par déficit en protéine C du surfactant"],"definition":"Pneumopathie interstitielle génétique caractérisée par une maladie pulmonaire diffuse de phénotype variable oscillant entre une insuffisance respiratoire sévère chez l'enfant et l'absence de symptômes chez l'adulte, due à un déficit en protéine C tensioactive. Les signes cliniques typiques au cours de la petite enfance sont la dyspnée, la toux, la respiration sifflante et la cyanose progressive, avec ou sans retard de croissance. Les examens radiologiques mettent en évidence des infiltrats en verre dépoli chez les nouveau-nés, puis, plus tard, un épaississement interstitiel associé à une hyperinflation pulmonaire, des kystes intra-parenchymateux/sous-pleuraux, des structures alvéolaires, des nodules sous-pleuraux ou une bronchectasie. Les infiltras et les fuites d'air pulmonaires sont des complications fréquentes."},"de":{"name":"Interstitielle Lungenerkrankung durch SP-C-Mangel","synonyms":["Interstitielle Lungenerkrankung durch Surfactant-Protein-C-Mangel"],"definition":"Eine seltene genetisch bedingte interstitielle Lungenerkrankung, die durch eine diffuse Lungenerkrankung mit variablem Phänotyp gekennzeichnet ist, der von schwerer respiratorischer Insuffizienz im Säuglingsalter bis hin zu asymptomatischen Erwachsenen reicht und auf einem Surfactant-Protein-C-Mangel beruht. Typische Symptome im Säuglingsalter sind Dyspnoe, Husten, Keuchen und allmähliche Zyanose, mit oder ohne Gedeihstörung. Zu den radiologischen Befunden gehören diffuse Milchglastrübungen bei Neugeborenen, später interstitielle Verdickungen in Verbindung mit Lungenhyperinflation, intraparenchymale/subpleurale Zysten, Wabenbildung, subpleurale Knötchen oder Bronchiektasen. Infiltrate und Luftlecks sind häufige Komplikationen."},"es":{"name":"Enfermedad pulmonar intersticial por deficiencia de SP-C","synonyms":["Enfermedad pulmonar intersticial por deficiencia de la proteína C surfactante"],"definition":"Es una enfermedad pulmonar intersticial de base genética poco frecuente, caracterizada por una enfermedad pulmonar difusa de fenotipo variable que va desde insuficiencia respiratoria grave en la infancia hasta adultos asintomáticos, debido a una deficiencia de la proteína C del surfactante. La presentación habitual en el lactante incluye disnea, tos, sibilancias y cianosis gradual, con o sin fallo de medro. Los hallazgos radiológicos incluyen opacidades difusas en vidrio esmerilado en recién nacidos, engrosamiento intersticial posterior acompañado de hiperinsuflación pulmonar, quistes intraparenquimatosos/ subpleurales, patrones en panal de abeja, nódulos subpleurales o bronquiectasias. Los infiltrados y las fugas de aire son complicaciones frecuentes."},"it":{"name":"Pneumopatia interstiziale da deficit di SP-C","synonyms":["Malattia polmonare interstiziale da deficit della proteina C del surfattante"],"definition":"Si tratta di una pneumopatia interstiziale genetica rara, caratterizzata da una malattia polmonare diffusa con fenotipo variabile, che comprende l'insufficienza respiratoria grave nella prima infanzia, fino alla forma adulta asintomatica. La malattia è causata da un deficit della proteina C del surfattante. La forma infantile è caratterizzata da dispnea, tosse, affanno e cianosi graduale, con o senza ritardo della crescita. Le radiografie mostrano diffuse opacità a vetro smerigliato nei neonati, e, in seguito, un ispessimento interstiziale associato ad iperinflazione polmonare, cisti intraparenchimali/subpleuriche, aspetto a nido d'ape, noduli subpleurici o bronchiectasie. Gli infiltrati e le perdite d'aria sono complicanze comuni."},"nl":{"name":"Interstitiële longziekte door SP-C-deficiëntie","synonyms":["Interstitiële longziekte door surfactant proteïne C-deficiëntie"],"definition":"Een zeldzame, genetische interstitiële longziekte, gekarakteriseerd door diffuse longziekte met variabel fenotype gaande van ernstige respiratoire insufficiëntie in de zuigelingentijd tot asymptomatische volwassenen, als gevolg van deficiëntie van surfactant proteïne C. Typische presentatie in de zuigelingentijd omvat dyspneu, hoest, piepende ademhaling, en graduele cyanose, met of zonder groeifalen. Radiologische bevindingen zijn onder meer diffuse matglas-opaciteiten bij neonaten, later interstitiële verdikking geassocieerd met hyperinflatie van long, intraparenchymale/subpleurale cysten, honingraatlong, subpleurale noduli, of bronchiëctasie. Infiltraten en lekkage van lucht zijn vaak voorkomende complicaties."},"pt":{"name":"Doença pulmonar intersticial por défice de SP-C"},"pl":{"name":"Śródmiąższowa choroba płuc spowodowana niedoborem SP-C","synonyms":["Śródmiąższowa choroba płuc spowodowana niedoborem białka C surfaktantu"]},"cs":{"name":"Intersticiální plicní onemocnění způsobené deficitem SP-C","synonyms":["Intersticiální plicní onemocnění způsobené deficitem surfaktantového proteinu C"]},"uk":{"name":"Інтерстиціальне захворювання легень, зумовлене дефіцитом SP-C","synonyms":["Інтерстиціальне захворювання легень через дефіцит протеїну С сурфактанта"],"definition":"A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications."},"zh":{"name":"SP-C缺乏引所致间质性肺疾病","synonyms":["表面活性蛋白C缺乏导致的间质性肺病"]},"tr":{"name":"SP-C eksikliğine bağlı interstisyel akciğer hastalığı","synonyms":["Sürfaktan protein C eksikliğine bağlı interstisyel akciğer hastalığı"]}},"xrefs":[{"source":"OMIM","code":"610913","qualifier":"NTBT","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":"704290042"},{"source":"MONDO","code":"0018603","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567048","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970470","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":264930,"name":"Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder","classifications":[184,233]}],"children":[],"genes":[{"symbol":"SFTPC","name":"surfactant protein C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25782673[PMID]","hgnc":"10802","ensembl":"ENSG00000168484","omim":"178620","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"11207353[PMID]_11445799[PMID]_11991887[PMID]_15039969[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11207353[PMID]_11445799[PMID]_11991887[PMID]_15039969[PMID]_ORPHANET"}],"phenotypes":null}