{"orpha":178396,"name":"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178396/","orphanet_url":"https://www.orpha.net/en/disease/detail/178396","names":{"fr":{"name":"Hémorragie due à la mutation Pittsburgh de l'alpha-1-antitrypsine","definition":"Déficit constitutionnel en facteurs de coagulation rare caractérisé par une tendance hémorragique de gravité variable due à une substitution de la méthionine 358 en arginine (mutation de Pittsburgh) dans la protéine alpha-1-antitrypsine. Des hématomes spontanés, des hématomes consécutifs à un traumatisme mineur ou à une intervention chirurgicale sont présents chez tous les patients, tandis que les femmes présentent également des hématomes ovariens consécutifs à l'ovulation."},"de":{"name":"Hämorrhagische Krankheit durch Alpha-1-Antitrypsin Pittsburgh-Mutation","definition":"Eine seltene, genetisch bedingte Störung des Gerinnungsfaktors, die durch eine Blutungsneigung unterschiedlichen Schweregrades aufgrund eines Methionin-358-zu-Arginin-Austauschs (Pittsburgh-Mutation) im Alpha-1-Antitrypsin-Protein gekennzeichnet ist. Die Patienten weisen spontane Hämatome, Hämatome nach leichten Traumata oder Operationen und bei weiblichen Patienten Eierstockhämatome nach dem Eisprung auf."},"es":{"name":"Enfermedad hemorrágica por una mutación Pittsburgh en alfa 1-antitripsina","definition":"Es un trastorno genético por defecto constitucional del factor de coagulación poco frecuente, caracterizado por una tendencia a la hemorragia de gravedad variable, debida al cambio de metionina en posición 358 por arginina (mutación de Pittsburgh) en la proteína alfa-1-antitripsina. Los pacientes presentan hematomas espontáneos y después de un traumatismo o cirugía menor y, en el caso de las mujeres, hematomas ováricos después de la ovulación."},"it":{"name":"Malattia emorragica da mutazione di alfa-1 antitripsina Pittsburgh","definition":"La malattia emorragica da mutazione dell'alfa-1-antitripsina Pittsburgh è un difetto genetico raro costituzionale di un fattore della coagulazione, caratterizzato dalla tendenza alle emorragie di gravità variabile, causata dalla sostituzione della metionina 358 con l'arginina (mutazione di Pittsburgh) nella proteina alfa-1-antitripsina. I pazienti presentano ematomi che insorgono spontaneamente o sono causati da piccoli traumi o da interventi chirurgici. Nelle femmine, si associa ad ematomi ovarici dopo l'ovulazione."},"nl":{"name":"Hemorragische ziekte door Pittsburgh-mutatie in alfa-1-antitrypsine","definition":"Een zeldzame, genetische, constitutionele aandoening door een defect van een stollingsfactor, gekenmerkt door bloedingsneiging met variabele gradaties van ernst als gevolg van een substitutie van methionine-358 door arginine (Pittsburgh-mutatie) in het proteïne alfa-1-antitrypsine. Patiënten presenteren zich met spontane hematomen, hematomen na klein trauma of chirurgie en, bij vrouwelijke patiënten, ovariële hematomen na ovulatie."},"pt":{"name":"Doença hemorrágica por mutação de Pittsburg na alfa-1 antitripsina"},"pl":{"name":"Choroba krwotoczna z powodu mutacji Pittsburgh alfa-1-antytrypsyny","definition":"Rzadki, genetyczny, konstytucyjny defekt czynnika krzepnięcia, charakteryzujący się skłonnością do krwawień o różnym nasileniu z powodu zamiany metioniny 358 na argininę (mutacja Pittsburgha) w białku alfa-1-antytrypsyny. Pacjenci zgłaszają się z samoistnymi krwiakami, krwiakami po niewielkich urazach lub zabiegach chirurgicznych, au pacjentek z krwiakami jajników po owulacji."},"cs":{"name":"Krvácivá porucha způsobená Pittsburgskou mutací alfa-1-antitrypsinu"},"uk":{"name":"Геморагічна хвороба, спричинена мутацією альфа-1-антитрипсину Піттсбурга","definition":"A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation."},"zh":{"name":"α1-抗胰蛋白酶匹茨堡突变所致出血性疾病","definition":"α-1-抗胰蛋白酶匹兹堡突变所致出血性疾病是一种罕见的遗传性原发性凝血因子缺陷性疾病，其特征为由于α-1-抗胰蛋白酶中第358位的精氨酸被蛋氨酸替换（匹兹堡突变）所致出血倾向。其主要临床表现为自发性血肿，轻微创伤或手术后血肿，女性患者排卵后出现卵巢血肿。"},"tr":{"name":"Alfa-1-antitripsin Pittsburgh mutasyonuna bağlı hemorajik hastalık"}},"xrefs":[{"source":"OMIM","code":"613490","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C5A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"59972355"},{"source":"MONDO","code":"0015801","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190706","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","classifications":[156,194]},{"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":"19483159[PMID]","hgnc":"8941","ensembl":"ENSG00000197249","omim":"107400","loci":["14q32.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19483159[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19483159[PMID]"}],"phenotypes":null}