{"Name":"Hereditary angioneurotic edema","DiseaseID__c":"GARD:0005979","id":5979,"encodedName":"hereditary-angioneurotic-edema","IsDeleted":false,"Disease_Name_Full__c":"Hereditary angioneurotic edema","Xref_IDs__c":"82966003; C0019243; C84758; D054179; DOID:14735; MEDGEN:9229; MONDO:0019623; OMIMPS:106100; ORPHA:91378","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019623","Disease_Description__c":"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.","GARD_Name__c":"Hereditary angioneurotic edema","GARD_Synonym__c":"angioedemas, hereditary; c1 esterase inhibitor deficiency; familial angioneurotic edema; familial angioneurotic oedema; hae; hae - hereditary angioedema; hane; hane - hereditary angioneurotic edema; hereditary angioedema; hereditary angioneurotic oedema; hereditary bradykinine-induced angioedema; hereditary non histamine-induced angioedema; hereditary quincke's edema","Curated_Disease_Description_Source__c":"GARD:0005979","Curated_Disease_Description__c":"Hereditary angioedema (HAE) is a condition where people have recurrent episodes (also called attacks) of severe swelling of the skin and mucous membranes (the lining of some organs). These attacks generally become more frequent after puberty, and continue throughout life, often affecting the skin, gastrointestinal tract, and upper airway. The most common areas of the skin that are affected include the face (like lips and eyes), hands, arms, legs, genitals, and buttocks. While skin swelling can cause pain, dysfunction, and disfigurement, it is not considered dangerous. When the gastrointestinal tract is involved, this may cause symptoms such as nausea, vomiting, diarrhea, and abdominal pain. The upper airway (like larynx and tongue) is less commonly affected (less than 3% of attacks), but can cause upper airway obstruction, which can be dangerous. Most airway attacks resolve before complete airway obstruction. Attacks may involve one area or a combination of areas of the body and typically go away on their own within 2 to 5 days. While people with HAE have reported various triggers of attacks, common triggers for attacks include emotional stress, physical stress, and dental procedures. HAE may be caused by genetic changes (pathogenic variants) in the SERPING1 gene (also called the C1NH gene) or in the F12 gene. In some cases, the cause is not yet known. Inheritance is autosomal dominant, but not all people with a genetic change will develop symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:91378","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019623","ORPHANET_ID__c":"ORPHA:91378","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Angioedema hereditario","Spanish_Description_Source__c":"ORPHA:91378","Spanish_Description__c":"El angioedema hereditario (AEH) es una enfermedad genética caracterizada por la ocurrencia de edemas submucosos y/o subcutáneos transitorios y recurrentes resultando en dolor y/o inflamación abdominal.","Spanish_Disease_Name__c":"angioedema hereditario","Spanish_GARD_Synonym__c":"aeh; angioedema hereditario inducido por bradiquinina; angioedema hereditario no inducido por histamina; edema angioneurótico familar; edema angioneurótico hereditario","Category_Linearization__c":"ORPHA:98023","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hereditary angioedema (HAE) is a condition where people have recurrent episodes (also called attacks) of severe swelling of the skin and mucous membranes (the lining of some organs). These attacks generally become more frequent after puberty, and continue throughout life, often affecting the skin, gastrointestinal tract, and upper airway. The most common areas of the skin that are affected include the face (like lips and eyes), hands, arms, legs, genitals, and buttocks. While skin swelling can cause pain, dysfunction, and disfigurement, it is not considered dangerous. When the gastrointestinal tract is involved, this may cause symptoms such as nausea, vomiting, diarrhea, and abdominal pain. The upper airway (like larynx and tongue) is less commonly affected (less than 3% of attacks), but can cause upper airway obstruction, which can be dangerous. Most airway attacks resolve before complete airway obstruction. Attacks may involve one area or a combination of areas of the body and typically go away on their own within 2 to 5 days. While people with HAE have reported various triggers of attacks, common triggers for attacks include emotional stress, physical stress, and dental procedures. HAE may be caused by genetic changes (pathogenic variants) in the SERPING1 gene (also called the C1NH gene) or in the F12 gene. In some cases, the cause is not yet known. Inheritance is autosomal dominant, but not all people with a genetic change will develop symptoms.","Curated_Disease_Description_Source__c":"GARD:0005979","GARD_Synonym__c":"angioedemas, hereditary; c1 esterase inhibitor deficiency; familial angioneurotic edema; familial angioneurotic oedema; hae; hae - hereditary angioedema; hane; hane - hereditary angioneurotic edema; hereditary angioedema; hereditary angioneurotic oedema; hereditary bradykinine-induced angioedema; hereditary non histamine-induced angioedema; hereditary quincke's edema","Name":"Hereditary angioneurotic edema","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Allergy & Asthma Network Mothers of Asthmatics","Website__c":"https://allergyasthmanetwork.org/"},{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"Account_Name__c":"US Hereditary Angioedema Association","Website__c":"https://www.haea.org/"},{"Account_Name__c":"HAE International","Website__c":"https://haei.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:91378"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0019243"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14735","Source__c":"MONDO:0019623","Xref__c":"DOID:14735"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0019243","Source__c":"C0019243","Xref__c":"C0019243"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054179","Source__c":"C0019243; MONDO:0019623","Xref__c":"D054179"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84758","Source__c":"C0019243; MONDO:0019623","Xref__c":"C84758"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82966003","Source__c":"C0019243; MONDO:0019623","Xref__c":"82966003"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS106100","Source__c":"MONDO:0019623","Xref__c":"OMIMPS:106100"},{"URL__c":"https://www.orpha.net/en/disease/detail/91378","Source__c":"C0019243; MONDO:0019623; ORPHA:91378","Xref__c":"ORPHA:91378"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9229","Source__c":"C0019243","Xref__c":"MEDGEN:9229"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019623","Source__c":"GARD:0005979","Xref__c":"MONDO:0019623"},{"URL__c":"https://medlineplus.gov/genetics/condition/hereditary-angioedema"},{"URL__c":"https://medlineplus.gov/genetics/condition/hereditary-angioedema","Source__c":"GARD:0005979","Xref__c":"https://medlineplus.gov/genetics/condition/hereditary-angioedema"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Immunology","Vascular Medicine","Pediatrics"]},"synonyms":["angioedemas, hereditary"," c1 esterase inhibitor deficiency"," familial angioneurotic edema"," familial angioneurotic oedema"," hae"," hae - hereditary angioedema"," hane"," hane - hereditary angioneurotic edema"," hereditary angioedema"," hereditary angioneurotic oedema"," hereditary bradykinine-induced angioedema"," hereditary non histamine-induced angioedema"," hereditary quincke's edema"]}