{"orpha":100050,"name":"Hereditary angioedema type 1","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hereditary angioneurotic edema type 1","HAE 1","HAE-I"],"definition":"A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100050/","orphanet_url":"https://www.orpha.net/en/disease/detail/100050","names":{"fr":{"name":"Angio-oedème héréditaire type I","synonyms":["Angio-oedème bradykinique héréditaire de type I","HAE 1","HAE-I","Oedème angioneurotique héréditaire type I"],"definition":"L'angioedème héréditaire de type 1 est une forme d'angioedème héréditaire (AOH) caractérisée par un oedème aigu des tissus sous-cutanés et sous-muqueux des viscères et/ou des voies aériennes supérieures."},"de":{"name":"Angioödem, hereditäres, Typ 1","definition":"Das Hereditäre Angioödem Typ 1 (HAE 1), eine Form des Hereditären Angioödems (s. dort), ist gekennzeichnet durch akutes Ödem in subkutanen Geweben, inneren Organen und/oder oberen Atemwegen."},"es":{"name":"Angioedema hereditario tipo 1","definition":"Es una forma de angioedema hereditario caracterizado por un edema agudo en los tejidos subcutáneos, las vísceras y/o la vía aérea superior."},"it":{"name":"Angioedema ereditario, tipo 1","synonyms":["Edema angioneurotico ereditario, tipo 1","HAE-1"],"definition":"L'angioedema ereditario tipo 1 (HAE 1) è una forma di angioedema ereditario (si veda questo termine) caratterizzata da edema acuto nei tessuti sottocutanei, nei visceri e/o nelle vie respiratorie superiori."},"nl":{"name":"Erfelijk angio-oedeem type 1","synonyms":["Erfelijk angioneurotisch oedeem type 1","HAE-I","Hereditair angio-oedeem type 1"],"definition":"Een vorm van erfelijk angio-oedeem gekarakteriseerd door acuut oedeem in onderhuidse weefsels, ingewanden en/of de bovenste luchtwegen."},"pt":{"name":"Angioedema hereditário tipo 1","synonyms":["Angioedema hereditário tipo I"]},"pl":{"name":"Dziedziczny obrzęk naczynioruchowy typu 1","synonyms":["Dziedziczny obrzęk angioneurotyczny typu 1","HAE-I"]},"cs":{"name":"Hereditární angioedém, typ 1","synonyms":["HAE-I","Hereditární angioneurotický edém, typ 1"]},"uk":{"name":"Спадковий ангіоневротичний набряк, тип 1","synonyms":["САН 1","САН-I","Спадковий ангіоневротичний набряк типу 1"],"definition":"A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."},"zh":{"name":"遗传性血管性水肿1型","synonyms":["遗传性血管神经性水肿1型"],"definition":"遗传性血管性水肿2型是遗传性血管性水肿的一种形式，特征是皮下组织、内脏和/或上呼吸道出现急性水肿。"},"tr":{"name":"Kalıtsal anjiyoödem tip 1","synonyms":["HAE 1","HAE-I","Kalıtsal anjiyonörotik ödem tip 1"]}},"xrefs":[{"source":"OMIM","code":"106100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.14","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1918767567"},{"source":"MONDO","code":"0015053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":528623,"name":"Hereditary angioedema with C1Inh deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"SERPING1","name":"serpin family G member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24456027[PMID]","hgnc":"1228","ensembl":"ENSG00000149131","omim":"606860","loci":["11q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.54,"area":"Italy","status":"Validated","source":"25758562[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-04","source":"26661330[PMID]_22299312[PMID]_23283143[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012252","label":"Abnormal respiratory system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011971","label":"Dermatographic urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007514","label":"Edema of the dorsum of hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005225","label":"Intestinal edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012027","label":"Laryngeal edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025349","label":"Limbal edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040315","label":"Tongue edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100755","label":"Abnormality of salivation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005483","label":"Abnormal epiglottis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100736","label":"Abnormality of the soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000172","label":"Abnormality of the uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005348","label":"Inspiratory stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011855","label":"Pharyngeal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null}]}}