{"orpha":599418,"name":"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-599418/","orphanet_url":"https://www.orpha.net/en/disease/detail/599418","names":{"fr":{"name":"Angio-oedème héréditaire avec C1Inh normal non associé à F12 ni PLG"},"de":{"name":"Angioödem, hereditäres, mit normalen C1-INH, nicht assoziiert mit F12- oder PLG-Variante"},"es":{"name":"Angioedema hereditario con C1Inh normal no asociado a variantes en los genes F12 o PLG"},"it":{"name":"Angioedema ereditario con C1Inh normale non correlato a varianti in F12 o PLG"},"nl":{"name":"Hereditair angio-oedeem met normale C1Inh niet gerelateerd aan F12- of PLG-variant"},"pt":{"name":"Angioedema hereditário com C1Inh normal não relacionado com F12 ou PLG"},"pl":{"name":"Dziedziczny obrzęk naczynioruchowy z prawidłowym C1Inh niezwiązany z wariantem F12 lub PLG"},"cs":{"name":"Dědičný angioedém s normálním C1Inh nesouvisející s variantou F12 nebo PLG"},"uk":{"name":"Спадковий ангіоневротичний набряк з нормальним C1Inh, не повязаний з варіантом F12 або PLG"},"zh":{"name":"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"},"tr":{"name":"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"}},"xrefs":[{"source":"OMIM","code":"619367","qualifier":"BTNT","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":"0035734","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681601","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":537891,"name":"OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh","status":"inactive"}],"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":"ANGPT1","name":"angiopoietin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28601681[PMID]","hgnc":"484","ensembl":"ENSG00000154188","omim":"601667","loci":["8q23.1"]},{"symbol":"HS3ST6","name":"heparan sulfate-glucosamine 3-sulfotransferase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33799813[PMID]","hgnc":"14178","ensembl":"ENSG00000162040","omim":"619210","loci":["16p13.3"]},{"symbol":"KNG1","name":"kininogen 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33059692[PMID]","hgnc":"6383","ensembl":"ENSG00000113889","omim":"612358","loci":["3q27.3"]},{"symbol":"MYOF","name":"myoferlin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33508266[PMID]","hgnc":"3656","ensembl":"ENSG00000138119","omim":"604603","loci":["10q23.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}