{"orpha":60,"name":"Alpha-1-antitrypsin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-1-proteinase inhibitor deficiency","Alpha1-antitrypsin deficiency"],"definition":"A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-60/","orphanet_url":"https://www.orpha.net/en/disease/detail/60","names":{"fr":{"name":"Déficit en alpha-1-antitrypsine","synonyms":["Déficit en alpha1-antitrypsine","Déficit en inhibiteur de protéase alpha-1"],"definition":"Maladie métabolique héréditaire rare caractérisée par des taux sériques d'alpha-1-antitrypsine (AAT) bien inférieurs à la normale. Dans sa forme la plus sévère, la maladie peut se manifester sur le plan clinique par des troubles hépatiques chroniques (cirrhose, fibrose), des troubles respiratoires (emphysème, bronchiectasie), et rarement par une panniculite ou une vascularite."},"de":{"name":"Alpha-1-Antitrypsin-Mangel","synonyms":["Alpha-1-Proteinase-Inhibitor-Mangel"],"definition":"Eine seltene hereditäre Stoffwechselerkrankung, bei der die Serumkonzentration von Alpha-1-Antitrypsin (AAT) weit unter dem Normalwert liegt. In der schwersten Form kann sich die Erkrankung klinisch als chronische Lebererkrankung (Zirrhose, Fibrose), Atemwegserkrankung (Emphysem, Bronchiektasen) und selten als Pannikulitis oder Vaskulitis manifestieren."},"es":{"name":"Deficiencia de alfa-1 antitripsina","synonyms":["Deficiencia del inhibidor de la proteinasa alfa 1"],"definition":"Es una enfermedad metabólica hereditaria poco frecuente caracterizada por niveles séricos de alfa-1-antitripsina (AAT) muy por debajo del rango normal. En la forma más grave, la enfermedad puede manifestarse clínicamente con trastornos hepáticos crónicos (cirrosis, fibrosis), trastornos respiratorios (enfisema, bronquiectasias) y, excepcionalmente, paniculitis o vasculitis."},"it":{"name":"Deficit di alfa-1-antitripsina","synonyms":["Deficit dell'inibitore dell'alfa-1-proteinasi"],"definition":"Si tratta di una malattia metabolica ereditaria rara, caratterizzata da livelli di alfa-1-antitripsina (AAT) nel siero molto inferiori alla norma. Nella forma più grave, la malattia può manifestarsi, dal punto di vista clinico, con epatopatia cronica (cirrosi, fibrosi), malattia respiratoria (enfisema, bronchiectasie) e, raramente, panniculite o vasculite."},"nl":{"name":"Deficiëntie van alfa-1-antitrypsine","synonyms":["Deficiëntie van alfa-1-proteïnaseremmer","Deficiëntie van alfa1-antitrypsine"],"definition":"Een zeldzame, erfelijke metabole aandoening, gekenmerkt door gehaltes van alfa-1-antitrypsine (AAT) in serum die ver onder de normale waarden liggen. Bij de meest ernstige vorm kan de ziekte zich klinisch manifesteren met chronische leveraandoeningen (cirrose, fibrose), respiratoire aandoeningen (emfyseem, bronchiëctasie), en zelden panniculitis of vasculitis."},"pt":{"name":"Deficiência de alfa-1 antitripsina","synonyms":["Deficiência de inibidor de alfa-1-proteinase"],"definition":"A deficiência de alfa-1 antitripsina (AATD) é uma doença genética que se manifesta por enfisema pulmonar, cirrose hepática e, mais raramente, por paniculite. AATD é caracterizada por baixos níveis séricos de AAT, principal inibidor de proteases (PI) no soro humano."},"pl":{"name":"Niedobór alfa-1-antytrypsyny","synonyms":["Niedobór inhibitora Alfa-1-proteinazy"],"definition":"Rzadka dziedziczna choroba metaboliczna charakteryzująca się znacznie obniżonym stężeniem alfa-1-antytrypsyny w surowicy. W najcięższej postaci choroba może objawiać się przewlekłymi zaburzeniami czynności wątroby (marskość, zwłóknienie), układu oddechowego (rozedma płuc, rozstrzenie oskrzeli), rzadko zapaleniem tkanki podskórnej lub naczyń."},"cs":{"name":"Deficit alfa-1-antitrypsinu","synonyms":["Deficit inhibitoru alfa-1-proteinázy"]},"uk":{"name":"Дефіцит альфа-1-антитрипсину","synonyms":["Дефіцит альфа1-антитрипсину","Дефіцит інгібітора альфа-1-протеїнази"],"definition":"A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis."},"zh":{"name":"α-1-抗胰蛋白酶缺乏症","synonyms":["Alpha-1-proteinase inhibitor deficiency","Alpha1-antitrypsin deficiency"]},"tr":{"name":"Alfa-1-antitripsin eksikliği","synonyms":["Alpha-1-proteinase inhibitor deficiency","Alpha1-antitrypsin deficiency"]}},"xrefs":[{"source":"OMIM","code":"613490","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C5A","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"824872160"},{"source":"MONDO","code":"0013282","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019896","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221757","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5784","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10001806","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":91088,"name":"Other metabolic disease","classifications":[150,156]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]},{"orpha":250808,"name":"Serpinopathy with toxic serpin polymerization","classifications":[156]}],"children":[],"genes":[{"symbol":"SERPINA1","name":"serpin family A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301692[PMID]","hgnc":"8941","ensembl":"ENSG00000197249","omim":"107400","loci":["14q32.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":47.5,"area":"Ireland","status":"Validated","source":"21752289[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2016[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Germany","status":"Validated","source":"18855308[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.0,"area":"United States","status":"Validated","source":"10954251[PMID]_18565211[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":33.0,"area":"Specific population","status":"Validated","source":"18565211[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":63.5,"area":"Sweden","status":"Validated","source":"1083485[PMID]_18565211[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-14","source":"32268028[PMID]_20301692[PMID]_37993348[PMID]_35072963[PMID]","terms":[{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032025","label":"Reduced circulating alpha-1-antitrypsin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045051","label":"Decreased DLCO","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000976","label":"Intrahepatic inclusion bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008176","label":"Neonatal unconjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032230","label":"Cytoplasmic antineutrophil antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012490","label":"Panniculitis","frequency":"Very rare (<4-1%)","criteria":null}]}}