{"orpha":537072,"name":"PLG-related hereditary angioedema with normal C1Inh","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PLG-related HAE with normal C1 inhibitor"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-537072/","orphanet_url":"https://www.orpha.net/en/disease/detail/537072","names":{"fr":{"name":"Angio-oedème héréditaire avec C1Inh normal lié à PLG","synonyms":["Angio-oedème héréditaire avec inhibiteur de C1 normal lié à PLG","HAE avec C1Inh normal lié à PLG"]},"de":{"name":"PLG-assoziiertes hereditäres Angioödem mit normalem C1-INH","synonyms":["PLG-abhängiges HAE mit normalem C1-Inhibitor"]},"es":{"name":"Angioedema hereditario con C1Inh normal asociado al gen PLG","synonyms":["AEH con inhibidor C1 normal asociado a PGL","AEH con inhibidor C1 normal asociado al gen PGL"]},"it":{"name":"Angioedema ereditario correlato a PLG con C1Inh normale"},"nl":{"name":"PLG-gerelateerd erfelijk angio-oedeem met normale C1Inh","synonyms":["PLG-gerelateerd HAE met normale C1-inhibitor"]},"pt":{"name":"Angioedema hereditário PLG-relacionado com C1Inh normal"},"pl":{"name":"Dziedziczny obrzęk naczynioruchowy związany z PLG z prawidłowym C1Inh","synonyms":["PLG-related HAE with normal C1 inhibitor"]},"cs":{"name":"PLG-vázaný hereditání angioedém s normální funkcí C1Inh","synonyms":["PLG-vázaný HAE s normální funkcí inhibitoru C1"]},"uk":{"name":"Спадковий ангіоневротичний набряк, повязаний з PLG, з нормальним C1Inh","synonyms":["HAE, повязана з ПЛГ, з нормальним інгібітором С1"]},"zh":{"name":"PLG基因相关的遗传性血管性水肿伴C1Inh正常","synonyms":["PLG基因相关的遗传性血管性水肿伴C1抑制剂正常"]},"tr":{"name":"Normal C1Inh ile seyreden PLG-ilişkili kalıtsal anjiyoödem","synonyms":["Normal C1 inhibitör ile seyreden PLG-ilişkili HAE"]}},"xrefs":[{"source":"OMIM","code":"619360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"T78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.14","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035220","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680155","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":528647,"name":"Hereditary angioedema with normal C1Inh","classifications":[156,195]}],"children":[],"genes":[{"symbol":"PLG","name":"plasminogen","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28795768[PMID]","hgnc":"9071","ensembl":"ENSG00000122194","omim":"173350","loci":["6q26"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":105.0,"area":"Worldwide","status":"Validated","source":"30809376[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30809376[PMID]"}],"phenotypes":null}