{"Name":"Hereditary angioedema with C1Inh deficiency","DiseaseID__c":"GARD:0022194","id":22194,"encodedName":"hereditary-angioedema-with-c1inh-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hereditary angioedema with C1Inh deficiency","Xref_IDs__c":"C4552294; DOID:0080939; MEDGEN:1812520; MONDO:0033946; ORPHA:528623","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0033946","Disease_Description__c":"Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.","GARD_Name__c":"Hereditary angioedema with C1Inh deficiency","GARD_Synonym__c":"angioedema, hereditary, 1 and 2; angioedema, hereditary, type 1/2; hae (hereditary angioedema) with c1inh (c1 esterase inhibitor) deficiency; hae with c1 inhibitor deficiency; hae with c1inh deficiency; hereditary angioedema with c1 esterase inhibitor deficiency; hereditary angioedema with c1inh (c1 esterase inhibitor) deficiency; hereditary angioneurotic edema with c1 inhibitor deficiency; hereditary angioneurotic edema with c1inh deficiency","Curated_Disease_Description_Source__c":"ORPHA:528623","Curated_Disease_Description__c":"A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:528623","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0033946","ORPHANET_ID__c":"ORPHA:528623","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Angioedema hereditario con deficiencia de c1inh","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"angioedema hereditario con deficiencia de c1inh","Spanish_GARD_Synonym__c":"aeh con deficiencia de c1inh; aeh con deficiencia de inhibidor c1; edema angioneurótico hereditario con deficiencia de c1inh; edema angioneurótico hereditario con deficiencia de inhibidor c1","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":"A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.","Curated_Disease_Description_Source__c":"ORPHA:528623","GARD_Synonym__c":"angioedema, hereditary, 1 and 2; angioedema, hereditary, type 1/2; hae (hereditary angioedema) with c1inh (c1 esterase inhibitor) deficiency; hae with c1 inhibitor deficiency; hae with c1inh deficiency; hereditary angioedema with c1 esterase inhibitor deficiency; hereditary angioedema with c1inh (c1 esterase inhibitor) deficiency; hereditary angioneurotic edema with c1 inhibitor deficiency; hereditary angioneurotic edema with c1inh deficiency","Name":"Hereditary angioedema with C1Inh deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"US Hereditary Angioedema Association","Website__c":"https://www.haea.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:528623"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:528623"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/528623","Source__c":"C4552294; MONDO:0033946; ORPHA:528623","Xref__c":"ORPHA:528623"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4552294","Source__c":"C4552294","Xref__c":"C4552294"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1812520","Source__c":"C4552294","Xref__c":"MEDGEN:1812520"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080939","Source__c":"MONDO:0033946","Xref__c":"DOID:0080939"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1230015008","Source__c":"C4552294","Xref__c":"1230015008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0033946","Source__c":"GARD:0022194","Xref__c":"MONDO:0033946"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SERPING1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/serping1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid and swelling in the tissues of the larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012027","HPO_Name__c":"Laryngeal edema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100665","HPO_Synonym__c":"Angioneurotic edema; Angiooedema; Quincke edema","HPO_Name__c":"Angioedema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000282","HPO_Synonym__c":"Facial puffiness; Facial swelling; Swelling of the face","HPO_Name__c":"Facial edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034204","HPO_Name__c":"Decreased circulating C1-esterase inhibitor concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A buildup of fluid that causes swelling in the soft tissues of the genital area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031188","HPO_Name__c":"Genital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal accumulation of fluid leading to swelling of the pharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011855","HPO_Synonym__c":"Swollen throat; Throat swelling","HPO_Name__c":"Pharyngeal edema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025406","HPO_Synonym__c":"Lack of energy and strength; Weakness","HPO_Name__c":"Asthenia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001386","HPO_Synonym__c":"Joint swelling","HPO_Name__c":"Joint swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin lesion with a snake- or serpent-like distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025527","HPO_Synonym__c":"Serpiginous eruption","HPO_Name__c":"Serpiginous cutaneous lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Intermittent episodes of increased resistance to the passage of air in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012271","HPO_Name__c":"Episodic upper airway obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of the complement component C4 in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045042","HPO_Synonym__c":"Decreased serum complement C4; Decreased serum complement C4 level","HPO_Name__c":"Decreased circulating complement C4 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100748","HPO_Name__c":"Muscular edema","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An erythematous (pink-red, depending on the skin color of the affected individual) macule that spreads peripherally and coalesces to form polycyclic or serpentine patches or plaques. Lesions occur in crops over days to weeks and are evanescent. The rate of migration is 2 to 12 mm over a period of a few hours. Erythema marginatum tends to affect the trunk more than the extremities and to not be accompanied by pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6001012","HPO_Name__c":"Erythema marginatum","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:528623","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000507","HPO_Name__c":"Non-pitting edema","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Immunology","Vascular Medicine"]},"synonyms":["angioedema, hereditary, 1 and 2"," angioedema, hereditary, type 1/2"," hae (hereditary angioedema) with c1inh (c1 esterase inhibitor) deficiency"," hae with c1 inhibitor deficiency"," hae with c1inh deficiency"," hereditary angioedema with c1 esterase inhibitor deficiency"," hereditary angioedema with c1inh (c1 esterase inhibitor) deficiency"," hereditary angioneurotic edema with c1 inhibitor deficiency"," hereditary angioneurotic edema with c1inh deficiency"]}