HAE1
MCID: ANG068
MIFTS: 58

Angioedema, Hereditary, Type I (HAE1)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Angioedema, Hereditary, Type I

MalaCards integrated aliases for Angioedema, Hereditary, Type I:

Name: Angioedema, Hereditary, Type I 57
Hereditary Angioneurotic Edema 72 29 6
Hereditary Angioedema Type 1 58 29 6
Angioedema, Hereditary, Types I and Ii 57 13
Hane 57 72
Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor 70
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 70
Angioneurotic Edema, Hereditary; Hane 57
Hereditary Angioneurotic Edema Type 2 58
Hereditary Angioneurotic Edema Type 1 58
C1 Esterase Inhibitor, Deficiency of 57
Hereditary Angioedema Types I and Ii 70
C1 Esterase Inhibitor Deficiency 72
Angioneurotic Edema, Hereditary 57
Hereditary Angioedema, Type Ii 6
Angioedema, Hereditary, Type 1 39
Hereditary Angioedema Type 2 58
Hereditary Angioedema Type I 70
Angioedemas, Hereditary 70
Hereditary Angioedema 72
Hae-Ii 58
Hae 2 58
Hae 1 58
Hae-I 58
Hae1 57
Hae 72

Characteristics:

Orphanet epidemiological data:

58
hereditary angioedema type 2
Inheritance: Autosomal dominant; Age of onset: All ages;
hereditary angioedema type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Italy); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
symptoms typically begin in childhood
prevalence estimated at 1 in 50,000
highly variable frequency and severity of attacks
trauma, anxiety, and/or stress can precipitate or aggravate edema
laryngeal edema can result in asphyxiation
associated with increased frequency of autoimmune diseases
several patients with homozygous c1nh mutations have been reported (see )


HPO:

31
angioedema, hereditary, type i:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare allergic disease


External Ids:

OMIM® 57 106100
MeSH 44 D054179
MESH via Orphanet 45 C538577
ICD10 via Orphanet 33 D84.1
UMLS via Orphanet 71 C0398775 C0398776 C1862892 more
UMLS 70 C0019243 C0398775 C0398776 more

Summaries for Angioedema, Hereditary, Type I

OMIM® : 57 Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. There are 2 classic types of the disorder. In type I, representing 85% of patients, serum levels of C1NH are less than 35% of normal (Cicardi and Agostoni, 1996; Bowen et al., 2001). In type II, the levels are normal or elevated, but the protein is nonfunctional. The 2 types are clinically indistinguishable. See 300145 for a discussion of angioedema induced by ACE inhibitors. Zuraw (2008) provided a detailed review of the clinical features, management, and pathogenesis of hereditary angioedema. (106100) (Updated 20-May-2021)

MalaCards based summary : Angioedema, Hereditary, Type I, also known as hereditary angioneurotic edema, is related to angioedema, hereditary, type iii and c1 inhibitor deficiency, and has symptoms including vomiting, abdominal pain and diarrhea. An important gene associated with Angioedema, Hereditary, Type I is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). The drugs Ciprofloxacin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include tongue, small intestine and brain, and related phenotypes are abdominal pain and paresthesia

UniProtKB/Swiss-Prot : 72 Hereditary angioedema: An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional.

Related Diseases for Angioedema, Hereditary, Type I

Diseases in the Angioedema family:

Angioedema, Hereditary, Type I Angioedema, Hereditary, Type Iii
Hereditary Angioedema Acquired Angioedema
Acquired Angioedema Type 1 Acquired Angioedema Type 2

Diseases related to Angioedema, Hereditary, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 237)
# Related Disease Score Top Affiliating Genes
1 angioedema, hereditary, type iii 32.0 SLC34A1 F12
2 c1 inhibitor deficiency 31.4 SLC34A1 SERPING1 F12
3 angioedema 30.9 SLC34A1 SERPING1 PLG F12
4 hereditary angioedema 30.7 SLC34A1 SERPING1 PLG F12
5 urticaria 29.3 SLC34A1 SERPING1 F12
6 hypertension, essential 29.0 SLC34A1 PLG F12
7 thrombosis 28.9 PLG F12
8 hereditary angioedema with normal c1inh 11.3
9 hereditary angioedema with c1inh deficiency 11.1
10 plg-related hereditary angioedema with normal c1inh 11.1
11 angpt1-related hereditary angioedema with normal c1inh 11.1
12 complement component 4, partial deficiency of 11.0
13 lymphoproliferative syndrome 10.5
14 acquired angioedema 10.5
15 marginal zone b-cell lymphoma 10.4
16 leukemia, chronic lymphocytic 10.3
17 splenic marginal zone lymphoma 10.3
18 lymphoma 10.3
19 b-cell lymphoma 10.3
20 acute pancreatitis 10.3
21 glomerulonephritis 10.3
22 pancreatitis 10.3
23 hydrops, lactic acidosis, and sideroblastic anemia 10.3
24 exanthem 10.3
25 macroglossia 10.3
26 lymphoma, hodgkin, classic 10.3
27 vasculitis 10.3
28 appendicitis 10.2
29 intussusception 10.2
30 autoimmune disease 10.2
31 anxiety 10.2
32 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
33 capillary leak syndrome 10.2
34 systemic lupus erythematosus 10.1
35 myelofibrosis 10.1
36 lymphoma, non-hodgkin, familial 10.1
37 diffuse large b-cell lymphoma 10.1
38 angioimmunoblastic t-cell lymphoma 10.1
39 pulmonary edema 10.1
40 leukemia 10.1
41 pancytopenia 10.1
42 diverticulitis 10.1
43 intestinal obstruction 10.1
44 ulcerative colitis 10.1
45 splenomegaly 10.1
46 atherosclerosis susceptibility 10.1
47 familial mediterranean fever 10.1
48 immunoglobulin alpha deficiency 10.1
49 covid-19 10.1
50 brucellosis 10.1

Graphical network of the top 20 diseases related to Angioedema, Hereditary, Type I:



Diseases related to Angioedema, Hereditary, Type I

Symptoms & Phenotypes for Angioedema, Hereditary, Type I

Human phenotypes related to Angioedema, Hereditary, Type I:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
2 paresthesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003401
3 facial edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000282
4 dermatographic urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0011971
5 edema of the dorsum of hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0007514
6 intestinal edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0005225
7 laryngeal edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0012027
8 limbal edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0025349
9 tongue edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0040315
10 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
11 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
12 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
13 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
14 abnormality of salivation 58 31 frequent (33%) Frequent (79-30%) HP:0100755
15 hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002615
16 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
17 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
18 abnormal epiglottis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005483
19 abnormality of the uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000172
20 inspiratory stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0005348
21 pharyngeal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0011855
22 autoimmunity 31 HP:0002960
23 dyspnea 58 Frequent (79-30%)
24 abnormality of the soft palate 58 Occasional (29-5%)
25 erythema 31 HP:0010783
26 urticaria 58 Very frequent (99-80%)
27 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
28 angioedema 31 HP:0100665
29 abnormality of the larynx 31 HP:0001600
30 peripheral axonal neuropathy 31 HP:0003477
31 abnormal respiratory system morphology 58 Very frequent (99-80%)
32 axonal degeneration 31 HP:0040078

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
vomiting
diarrhea
intestinal edema

Respiratory Larynx:
laryngeal edema

Skin Nails Hair Skin:
erythema marginatum

Neurologic Peripheral Nervous System:
peripheral axonal neuropathy, distal, vasculitic
sural nerve biopsy shows axonal degeneration
impaired sensation of all modalities, distal

Abdomen:
abdominal pain

Respiratory Nasopharynx:
pharyngeal edema

Muscle Soft Tissue:
episodic, nonpruritic, nonurticarial, nonpitting edema

Laboratory Abnormalities:
c1 esterase inhibitor deficiency
low level of c4 and c2

Clinical features from OMIM®:

106100 (Updated 20-May-2021)

UMLS symptoms related to Angioedema, Hereditary, Type I:


vomiting; abdominal pain; diarrhea

Drugs & Therapeutics for Angioedema, Hereditary, Type I

Drugs for Angioedema, Hereditary, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
2
Metronidazole Approved Phase 4 443-48-1 4173
3
Vancomycin Approved Phase 4 1404-90-6 441141 14969
4 Immunosuppressive Agents Phase 4
5 Immunoglobulins, Intravenous Phase 4
6 Rho(D) Immune Globulin Phase 4
7 gamma-Globulins Phase 4
8 Anti-Infective Agents Phase 4
9 Anti-Bacterial Agents Phase 4
10 Antiparasitic Agents Phase 4
11 Antibiotics, Antitubercular Phase 4
12 Antiprotozoal Agents Phase 4
13 Cytochrome P-450 Enzyme Inhibitors Phase 4
14
Tranexamic Acid Approved Phase 3 1197-18-8 5526
15
tannic acid Approved Phase 3 1401-55-4
16
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
17
Icatibant Approved, Investigational Phase 3 130308-48-4, 138614-30-9 71364
18
Bradykinin Investigational Phase 3 58-82-2 439201
19 Kallikreins Phase 3
20 Fibrinolytic Agents Phase 3
21 Antifibrinolytic Agents Phase 3
22 Coagulants Phase 3
23 Hemostatics Phase 3
24 Passionflower Phase 3
25 Antirheumatic Agents Phase 3
26 Anti-Inflammatory Agents Phase 3
27 Analgesics Phase 3
28 Anti-Inflammatory Agents, Non-Steroidal Phase 3
29 Analgesics, Non-Narcotic Phase 3
30 Kininogens Phase 3
31 Bradykinin Receptor Antagonists Phase 3
32 Pharmaceutical Solutions Phase 3
33 Antibodies, Monoclonal Phase 3
34 Immunoglobulin G Phase 3
35 Plasminogen Phase 2
36
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
37
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
38
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
39
Tolbutamide Approved, Investigational Phase 1 64-77-7 5505
40
Digoxin Approved Phase 1 20830-75-5 30322 2724385
41
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
42
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
43 Adrenergic Antagonists Phase 1
44 Adrenergic beta-Antagonists Phase 1
45 Adrenergic Agents Phase 1
46 Neurotransmitter Agents Phase 1
47 Rosuvastatin Calcium Phase 1 147098-20-2
48 Antimetabolites Phase 1
49 Anticholesteremic Agents Phase 1
50 Anti-Arrhythmia Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 104)
# Name Status NCT ID Phase Drugs
1 Prospective Open-label Uncontrolled Multi-center Post-marketing Study to Assess Inhibitory Antibody Formation in Subjects With Congenital C1-INH Deficiency and Acute Hereditary Angioedema (HAE) Attacks Treated With Berinert® , a C1-esterase Inhibitor Completed NCT01467947 Phase 4
2 Open Label, Multicenter Study to Evaluate Efficacy, Safety and Tolerability of a Self-Administered Subcutaneous Formulation of Icatibant for the Treatment of Acute Attacks of Hereditary Angioedema (IHA) Completed NCT01457430 Phase 4 Icatibant
3 A Phase 4 Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE® (C1 Inhibitor [Human]) as Prophylactic Therapy in Subjects With Inadequately Controlled Hereditary Angioedema Attacks Completed NCT00914966 Phase 4
4 Hereditary Angioedema : Interest From the Use of a Call Center During the Attacks. Completed NCT01679912 Phase 4
5 A Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Completed NCT03576469 Phase 4
6 Effect of Intravenous Administration of C1-inhibitor on Inflammation and Coagulation After Bronchial Instillation of House Dust Mite Allergen and Lipopolysaccharide in Allergic Asthma Patients Terminated NCT03051698 Phase 4 C1-inhibitor;Antibiotics
7 Randomized, Double-blind, Placebo-controlled, Dose-finding Study to Determine the Efficacy of 1000u, and 1500u of C1-INH Compared to Placebo at the Time of Prodromal Symptoms in Preventing an Acute HAE Exacerbation. Withdrawn NCT01151735 Phase 4 C-1-esterase;C-1-esterase;placebo
8 A Double-blind, Randomized, Placebo-controlled, Cross-over Study to Evaluate the Clinical Efficacy and Safety of Subcutaneous Administration of Human Plasma-derived C1-esterase Inhibitor in the Prophylactic Treatment of Hereditary Angioedema Completed NCT01912456 Phase 3
9 An Open-label, Randomized Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneous Administration of Human Plasma-derived C1-esterase Inhibitor in the Prophylactic Treatment of Hereditary Angioedema Completed NCT02316353 Phase 3
10 A Phase III Randomized, Double-Blind,Placebo-Controlled, Multicenter Study of Icatibant for Subcutaneous Injection in Patients With Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00912093 Phase 3 Icatibant;Placebo
11 A Phase 3, Open-label, Single-period Study to Evaluate the Safety and Treatment Effect of Intravenous Administration of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE) Completed NCT02865720 Phase 3 CINRYZE 500 U;CINRYZE 1000 U
12 HELP Study ExtensionTM: An Open-Label Study to Evaluate the Long-Term Safety and Efficacy of DX-2930 for Prevention Against Acute Attacks of Hereditary Angioedema (HAE) Completed NCT02741596 Phase 3 DX-2930;DX-2930
13 Randomised Double Blind, Controlled, Parallel Group, Multicentre Study of a Subcutaneous Formulation of Icatibant Versus Oral Tranexamic Acid for the Treatment of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
14 HELP Study: A Multicenter, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study to Evaluate DX-2930 For Long-Term Prophylaxis Against Acute Attacks of Hereditary Angioedema (HAE) Completed NCT02586805 Phase 3 DX-2930 - 300mg/2wk;DX-2930 - 300mg/4wk;DX-2930 - 150mg/4wk;Placebo
15 A Phase 3, Randomized, Double-blind, Placebo-controlled, Two-period, Three-sequence, Partial Crossover Study to Evaluate the Efficacy and Safety of Subcutaneous Administration of 2000 IU of C1 Esterase Inhibitor [Human] Liquid for Injection for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema Completed NCT02584959 Phase 3 C1 esterase inhibitor [human] liquid;Placebo
16 Open Label, Multicenter Study to Evaluate Safety, Local Tolerability, Convenience, and Efficacy of a Self-Administered Subcutaneous Formulation of Icatibant for the Treatment of Acute Attacks of Hereditary Angioedema Completed NCT00997204 Phase 3 Icatibant
17 Pharmacokinetics Berinert P Study of Subcutaneous Versus Intravenous Administration in Subjects With Moderate Hereditary Angioedema - The Passion Study Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
18 A Multicenter, Open-Label, Non-Randomized Study to Assess the Pharmacokinetics, Tolerability, and Safety of a Single Subcutaneous Administration of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
19 OPuS-2: A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Two Dose Levels of BCX4161 for 12 Weeks as an Oral Prophylaxis Treatment for Attacks of Hereditary Angioedema Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
20 LEVP2006-4 CHANGE 3 Trial (C1-Inhibitor in Hereditary Angioedema Nanofiltration Generation Evaluating Efficacy): Open-Label Use of C1INH-nf (Human) for the Prophylactic Treatment to Prevent HAE Attacks and as Treatment in Acute HAE Attacks Completed NCT00462709 Phase 3
21 Open-label Patient Continuation of DX-88 (Ecallantide) for Acute Hereditary Angioedema Attacks Completed NCT00456508 Phase 3 ecallantide
22 A Randomized, Placebo-controlled, Double-blind Phase III Study of the Efficacy and Safety of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
23 A Phase II/III Study of the Efficacy and Safety of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262288 Phase 2, Phase 3 i.v. recombinant human C1 inhibitor
24 A Double-blind, Placebo-controlled Study (72 Patients, Randomized 1:1) Followed by a Repeat-dosing Phase to Assess the Efficacy and Safety of DX-88 (Ecallantide; Recombinant Plasma Kallikrein Inhibitor) for the Treatment of Acute Attacks of Hereditary Angioedema Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
25 EDEMA4: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Assess the Efficacy and Safety of DX-88 (Ecallantide) for the Treatment of Acute Attacks of Hereditary Angioedema Completed NCT00457015 Phase 3 ecallantide;Phosphate Buffer Saline (PBS), pH 7.0
26 A Randomized, Placebo-controlled, Double Blind Phase II/III Study of the Safety and Efficacy of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00225147 Phase 2, Phase 3 Recombinant Human C1 Inhibitor;placebo
27 An Open-Label Study of Icatibant in Japanese Subjects With Acute Attacks of Hereditary Angioedema. Completed NCT03888755 Phase 3 Icatibant
28 A Phase 3, Multicenter, Randomized, Single-Blind, Dose-Ranging, Crossover Study to Evaluate the Safety and Efficacy of Intravenous Administration of CINRYZE® (C1 Esterase Inhibitor [Human]) for the Prevention of Angioedema Attacks in Children 6 to 11 Years of Age With Hereditary Angioedema Completed NCT02052141 Phase 3
29 LEVP2006-1 CHANGE 2 Trial (C1-Inhibitor in Hereditary Angioedema Nanofiltration Generation Evaluating Efficacy): Open-Label Safety/Efficacy Repeat Exposure Study of C1INH-nf (Human) in the Treatment of Acute HAE Attacks Completed NCT00438815 Phase 3
30 Randomized, Double Blind, Placebo-Controlled, Multicenter Study of a Subcutaneous Formulation of Icatibant for the Treatment of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
31 LEVP2005-1/Part B: A Double-blind, Placebo-Controlled, Clinical Study to Investigate the Efficacy and Safety of Purified C1 Esterase Inhibitor (Human) as Prophylactic Treatment to Prevent HAE Attacks Completed NCT01005888 Phase 3 Placebo (saline)
32 A Phase III Randomized, Double-blind, Placebo-controlled Study With an Open-label Extension Evaluating the Efficacy, Safety and Immunogenicity of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks of Angioedema in Patients With HAE Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
33 Open-label Extension Study of CE1145 (Human Pasteurized C1 Esterase Inhibitor Concentrate) in Subjects With Congenital C1-INH Deficiency and Acute HAE Attacks Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
34 LEVP2005-1/Part A: A Double-blind, Placebo-Controlled, Clinical Study to Investigate the Efficacy and Safety of Purified C1 Esterase Inhibitor (Human) for the Treatment of HAE in Acute Attacks Completed NCT00289211 Phase 3 Placebo (saline)
35 Human Pasteurized C1 Esterase Inhibitor Concentrate (CE1145) in Subjects With Congenital C1-INH Deficiency and Acute Abdominal or Facial HAE Attacks Completed NCT00168103 Phase 2, Phase 3
36 A Phase 3 Multi-center, Open-label Study to Evaluate the Efficacy and Safety of Lanadelumab (SHP643) in Japanese Subjects With Hereditary Angioedema Recruiting NCT04180163 Phase 3 Lanadelumab
37 A Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel-arm Study to Investigate the Efficacy and Safety of Subcutaneous Administration of CSL312 (Garadacimab) in the Prophylactic Treatment of Hereditary Angioedema Recruiting NCT04656418 Phase 3 Placebo
38 An Open-label Study to Evaluate the Long-term Safety and Efficacy of CSL312 (Garadacimab) in the Prophylactic Treatment of Hereditary Angioedema Recruiting NCT04739059 Phase 3
39 A Multicenter, Open-Label, Non-randomized Phase 3 Study to Assess the Safety, Efficacy and Pharmacokinetics of Subcutaneous Administration of Icatibant (TAK-667) in Japanese Children and Adolescents With Acute Attacks of Hereditary Angioedema Recruiting NCT04654351 Phase 3 TAK-667
40 Open-arm, Japan Expanded Access Program With Lanadelumab (TAK-743) for Japanese Patients With Hereditary Angioedema Recruiting NCT04687137 Phase 3 TAK-743 300 mg
41 A Phase 3, Multicenter, Randomized, Placebo-controlled, Double-blind Study to Evaluate the Efficacy and Safety of Lanadelumab for Prevention Against Acute Attacks of Non-histaminergic Angioedema With Normal C1-Inhibitor (C1-INH) Recruiting NCT04206605 Phase 3 Lanadelumab
42 An Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Lanadelumab for Prevention Against Acute Attacks of Non-histaminergic Angioedema With Normal C1-Inhibitor (C1-INH) Recruiting NCT04444895 Phase 3 Lanadelumab
43 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Two Dose Levels of BCX7353 as an Oral Treatment for the Prevention of Attacks in Subjects With Hereditary Angioedema Active, not recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
44 An Open-label Study to Evaluate the Long-term Safety of Daily Oral BCX7353 in Subjects With Type I and II Hereditary Angioedema Active, not recruiting NCT03472040 Phase 2, Phase 3 BCX7353
45 SPRING STUDY: An Open-Label, Multicenter, Phase 3 Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Lanadelumab for Prevention Against Acute Attacks of Hereditary Angioedema (HAE) in Pediatric Subjects 2 to <12 Years of Age Active, not recruiting NCT04070326 Phase 3 Lanadelumab
46 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Two Dose Levels of BCX7353 as an Oral Treatment for the Prevention of Attacks in Subjects With Hereditary Angioedema Active, not recruiting NCT03873116 Phase 3 BCX7353 capsules;BCX7353 capsules;Placebo oral capsule
47 OPuS-4: An Open-label Study to Evaluate the Long-term Safety of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
48 A 3-Part Study to Evaluate the Pharmacokinetics, Safety, and Efficacy of Subcutaneous Ecallantide in Prepubertal Paediatric Patients Experiencing Acute Attacks of Hereditary Angioedema (HAE) Withdrawn NCT01253382 Phase 2, Phase 3
49 A Multicenter, Open-Label Study to Assess the Tolerability and Safety of a Single, Subcutaneous Administration of Ecallantide in Children and Adolescents With Hereditary Angioedema Unknown status NCT01832896 Phase 2 Ecallantide subcutaneous dosing
50 A Randomized, Double-blind, Placebo-controlled, Dose-ranging, Study to Evaluate the Efficacy, Safety and Tolerability of Single Doses of BCX7353 as an Acute Attack Treatment in Subjects With Hereditary Angioedema Completed NCT03240133 Phase 2 BCX7353;Placebo

Search NIH Clinical Center for Angioedema, Hereditary, Type I

Inferred drug relations via UMLS 70 / NDF-RT 51 :


C1 esterase inhibitor (human)

Genetic Tests for Angioedema, Hereditary, Type I

Genetic tests related to Angioedema, Hereditary, Type I:

# Genetic test Affiliating Genes
1 Hereditary Angioedema Type 1 29 SERPING1
2 Hereditary Angioneurotic Edema 29

Anatomical Context for Angioedema, Hereditary, Type I

MalaCards organs/tissues related to Angioedema, Hereditary, Type I:

40
Tongue, Small Intestine, Brain, Kidney, Liver, Ovary, Myeloid

Publications for Angioedema, Hereditary, Type I

Articles related to Angioedema, Hereditary, Type I:

(show top 50) (show all 365)
# Title Authors PMID Year
1
Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene. 57 6 61
2296585 1990
2
Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. 61 57 6
2723063 1989
3
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema. 57 6
23688413 2013
4
First case of homozygous C1 inhibitor deficiency. 57 6
17137866 2006
5
Gonadal mosaicism in hereditary angioedema. 6 57
16813612 2006
6
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. 6 57
8755917 1996
7
Altered C1 inhibitor genes in type I hereditary angioedema. 6 57
3587308 1987
8
Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. 57 61
8450054 1993
9
Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema. 61 6
1885769 1991
10
CpG mutations in the reactive site of human C1 inhibitor. 61 6
2563376 1989
11
Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema. 6 61
2890659 1987
12
Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema. 57 61
3818946 1987
13
[Hereditary angioneurotic edema. Apropos of 185 patients and 40 families]. 57 61
6354379 1983
14
Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema. 61 57
6833491 1983
15
Hereditary angioneurotic edema first observed as an epiglottiditis. 57 61
6824488 1983
16
Hereditary angioneurotic edema and HLA types in two Danish families. 61 57
7165360 1982
17
Plasmapheresis in hereditary angioneurotic edema and systemic lupus erythematosus. 61 57
7352788 1980
18
Tranexamic acid therapy in hereditary angioneurotic edema. 61 57
4558045 1972
19
Epsilon aminocaproic acid therapy of hereditary angioneurotic edema. A double-blind study. 61 57
4551861 1972
20
Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema. 57 61
4107267 1971
21
C1 inhibitor: evidence for decreased hepatic synthesis in hereditary angioneurotic edema. 57 61
4935379 1971
22
Hereditary angioneurotic edema. Report of a large kindred with defect in C'1 esterase inhibitor and review of the literature. 61 57
4393526 1970
23
HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS. 61 57
14277836 1965
24
DETECTION OF HEREDITARY ANGIONEUROTIC EDEMA BY DEMONSTRATION OF A REDUCTION IN THE SECOND COMPONENT OF HUMAN COMPLEMENT. 61 57
14257837 1965
25
ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE. 61 57
14223932 1964
26
Hereditary angioneurotic edema. I. Case reports and review of the literature. 61 57
14461961 1962
27
Hereditary angioneurotic edema. Report of a case with gastrointestinal manifestations. 57 61
13778063 1961
28
Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another? 6
33034800 2021
29
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency. 6
31959500 2020
30
Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation. 6
31982983 2020
31
Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial. 57
30480729 2018
32
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. 6
29753808 2018
33
Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema. 6
28194776 2017
34
Characterization of patients with angioedema without wheals: the importance of F12 gene screening. 6
25744496 2015
35
Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor. 6
25790805 2015
36
Therapeutic agents for hereditary angioedema. 57
21208116 2011
37
Therapeutic agents for hereditary angioedema. 57
21208117 2011
38
A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation. 6
20864152 2010
39
Hereditary angioedema--therapies old and new. 57
20818894 2010
40
Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema. 57
20818886 2010
41
Ecallantide for the treatment of acute attacks in hereditary angioedema. 57
20818887 2010
42
Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. 57
20818888 2010
43
Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due to Mutation in the F12 Gene. 6
20490261 2010
44
Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys. 6
19474702 2009
45
Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. 6
19178938 2009
46
Clinical practice. Hereditary angioedema. 57
18768946 2008
47
Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. 6
17825897 2007
48
Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. 57
17502473 2007
49
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. 6
17186468 2006
50
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. 6
16638441 2006

Variations for Angioedema, Hereditary, Type I

ClinVar genetic disease variations for Angioedema, Hereditary, Type I:

6 (show top 50) (show all 159)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLG NM_000301.3(PLG):c.988A>G (p.Lys330Glu) SNV Pathogenic 590291 rs889957249 GRCh37: 6:161139762-161139762
GRCh38: 6:160718730-160718730
2 F12 , SLC34A1 NM_000505.4(F12):c.983C>A (p.Thr328Lys) SNV Pathogenic 1169 rs118204456 GRCh37: 5:176831232-176831232
GRCh38: 5:177404231-177404231
3 SERPING1 SERPING1, EX7DEL Deletion Pathogenic 3944 GRCh37:
GRCh38:
4 SERPING1 NM_000062.2(SERPING1):c.1397G>A (p.Arg466His) SNV Pathogenic 3946 rs121907948 GRCh37: 11:57381948-57381948
GRCh38: 11:57614475-57614475
5 SERPING1 NM_000062.2(SERPING1):c.1396C>T (p.Arg466Cys) SNV Pathogenic 3947 rs28940870 GRCh37: 11:57381947-57381947
GRCh38: 11:57614474-57614474
6 SERPING1 NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter) Duplication Pathogenic 3949 rs1554996819 GRCh37: 11:57381818-57381819
GRCh38: 11:57614345-57614346
7 SERPING1 NM_000062.2(SERPING1):c.1264del (p.Ser422fs) Deletion Pathogenic 3950 rs1554996817 GRCh37: 11:57381811-57381811
GRCh38: 11:57614338-57614338
8 SERPING1 NM_000062.2(SERPING1):c.1249+1G>T SNV Pathogenic 3951 rs112565881 GRCh37: 11:57379410-57379410
GRCh38: 11:57611937-57611937
9 SERPING1 SERPING1, 1-BP DEL, 11698C Deletion Pathogenic 3952 GRCh37:
GRCh38:
10 SERPING1 SERPING1, C-T, -103, PROMOTER SNV Pathogenic 3956 GRCh37:
GRCh38:
11 SERPING1 NM_000062.2(SERPING1):c.597C>G (p.Tyr199Ter) SNV Pathogenic 3957 rs121907951 GRCh37: 11:57369554-57369554
GRCh38: 11:57602081-57602081
12 SERPING1 NM_000062.2(SERPING1):c.1372G>A (p.Ala458Thr) SNV Pathogenic 3945 rs121907947 GRCh37: 11:57381923-57381923
GRCh38: 11:57614450-57614450
13 SERPING1 NM_000062.2(SERPING1):c.1396C>A (p.Arg466Ser) SNV Pathogenic 3948 rs28940870 GRCh37: 11:57381947-57381947
GRCh38: 11:57614474-57614474
14 SERPING1 NM_000062.2(SERPING1):c.1361T>A (p.Val454Glu) SNV Pathogenic 3953 rs121907949 GRCh37: 11:57381912-57381912
GRCh38: 11:57614439-57614439
15 SERPING1 NM_000062.2(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp) Insertion Pathogenic 3954 rs606231141 GRCh37: 11:57381908-57381909
GRCh38: 11:57614435-57614436
16 SERPING1 NM_000062.2(SERPING1):c.550+745_685+308del Deletion Pathogenic 252941 GRCh37: 11:57368540-57369895
GRCh38: 11:57601067-57602422
17 SERPING1 NM_000062.2(SERPING1):c.1198C>T (p.Arg400Cys) SNV Pathogenic 487525 rs201363394 GRCh37: 11:57379358-57379358
GRCh38: 11:57611885-57611885
18 SERPING1 NM_000062.2(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer) Indel Pathogenic 487526 rs1554995271 GRCh37: 11:57369603-57369603
GRCh38: 11:57602130-57602130
19 SERPING1 NM_000062.2(SERPING1):c.1385T>G (p.Ile462Ser) SNV Pathogenic 487524 rs763451792 GRCh37: 11:57381936-57381936
GRCh38: 11:57614463-57614463
20 SERPING1 NM_000062.3(SERPING1):c.-22-155G>T SNV Pathogenic 870444 GRCh37: 11:57365567-57365567
GRCh38: 11:57598094-57598094
21 SERPING1 NM_000062.2(SERPING1):c.953C>G (p.Ser318Ter) SNV Pathogenic 252942 rs1554995860 GRCh37: 11:57373944-57373944
GRCh38: 11:57606471-57606471
22 SERPING1 NM_000062.3(SERPING1):c.195del (p.Leu65fs) Deletion Pathogenic 979213 GRCh37: 11:57367495-57367495
GRCh38: 11:57600022-57600022
23 SERPING1 NM_000062.3(SERPING1):c.314_317del (p.Pro105fs) Microsatellite Pathogenic 979214 GRCh37: 11:57367609-57367612
GRCh38: 11:57600136-57600139
24 SERPING1 NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs) Duplication Pathogenic 979215 GRCh37: 11:57369531-57369532
GRCh38: 11:57602058-57602059
25 SERPING1 NM_000062.3(SERPING1):c.686-1G>A SNV Pathogenic 979216 GRCh37: 11:57373482-57373482
GRCh38: 11:57606009-57606009
26 SERPING1 NM_000062.3(SERPING1):c.902del (p.Thr301fs) Deletion Pathogenic 979217 GRCh37: 11:57373893-57373893
GRCh38: 11:57606420-57606420
27 SERPING1 NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter) SNV Pathogenic 979218 GRCh37: 11:57373976-57373976
GRCh38: 11:57606503-57606503
28 SERPING1 NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs) Insertion Pathogenic 979219 GRCh37: 11:57379393-57379394
GRCh38: 11:57611920-57611921
29 SERPING1 NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val) SNV Pathogenic 690357 rs1590831432 GRCh37: 11:57381924-57381924
GRCh38: 11:57614451-57614451
30 SERPING1 NM_000062.3(SERPING1):c.1180del (p.Thr394fs) Deletion Pathogenic 690356 rs1590829763 GRCh37: 11:57379340-57379340
GRCh38: 11:57611867-57611867
31 SERPING1 NM_000062.3(SERPING1):c.1417G>A (p.Val473Met) SNV Pathogenic 690355 rs956390201 GRCh37: 11:57381968-57381968
GRCh38: 11:57614495-57614495
32 SERPING1 NM_000062.3(SERPING1):c.508del (p.Ser170fs) Deletion Pathogenic 690354 rs1590822739 GRCh37: 11:57367805-57367805
GRCh38: 11:57600332-57600332
33 SERPING1 NM_000062.3(SERPING1):c.347del (p.Gln116fs) Deletion Pathogenic 690353 rs1590822588 GRCh37: 11:57367647-57367647
GRCh38: 11:57600174-57600174
34 SERPING1 NM_000062.2(SERPING1):c.586_589del (p.Ile196fs) Deletion Pathogenic 626356 rs1565170287 GRCh37: 11:57369542-57369545
GRCh38: 11:57602069-57602072
35 SERPING1 NM_000062.2(SERPING1):c.1106del (p.Asp369fs) Deletion Pathogenic 626355 rs1565173309 GRCh37: 11:57379266-57379266
GRCh38: 11:57611793-57611793
36 SERPING1 NM_000062.2(SERPING1):c.1420C>T (p.Gln474Ter) SNV Pathogenic 626354 rs1565174105 GRCh37: 11:57381971-57381971
GRCh38: 11:57614498-57614498
37 SERPING1 NM_000062.2(SERPING1):c.1A>C (p.Met1Leu) SNV Pathogenic 626353 rs1565168898 GRCh37: 11:57365744-57365744
GRCh38: 11:57598271-57598271
38 SERPING1 NM_000062.2(SERPING1):c.1A>G (p.Met1Val) SNV Pathogenic 626352 rs1565168898 GRCh37: 11:57365744-57365744
GRCh38: 11:57598271-57598271
39 SERPING1 NM_000062.2(SERPING1):c.342_345del (p.Thr115fs) Deletion Pathogenic 626351 rs1565169621 GRCh37: 11:57367640-57367643
GRCh38: 11:57600167-57600170
40 SERPING1 NM_000062.2(SERPING1):c.674_675delinsAA (p.Phe225Ter) Indel Pathogenic 626350 rs1565170364 GRCh37: 11:57369631-57369632
GRCh38: 11:57602158-57602159
41 SERPING1 NM_001032295.2(SERPING1):c.102_103AG[2] (p.Ser36fs) Microsatellite Pathogenic 626349 rs1590822296 GRCh37: 11:57367402-57367403
GRCh38: 11:57599929-57599930
42 SERPING1 NM_000062.2(SERPING1):c.1012C>T (p.Gln338Ter) SNV Pathogenic 626348 rs1565171906 GRCh37: 11:57374003-57374003
GRCh38: 11:57606530-57606530
43 SERPING1 NM_000062.2(SERPING1):c.1480C>T (p.Arg494Ter) SNV Pathogenic 626347 rs922149386 GRCh37: 11:57382031-57382031
GRCh38: 11:57614558-57614558
44 SERPING1 NM_001032295.2(SERPING1):c.1351_1352GA[1] (p.Glu451fs) Microsatellite Pathogenic 503707 rs1554996833 GRCh37: 11:57381901-57381902
GRCh38: 11:57614428-57614429
45 SERPING1 NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter) SNV Pathogenic 690351 rs1590831545 GRCh37: 11:57381997-57381997
GRCh38: 11:57614524-57614524
46 SERPING1 NM_000062.3(SERPING1):c.600dup (p.Lys201fs) Duplication Pathogenic 690350 rs1590823884 GRCh37: 11:57369553-57369554
GRCh38: 11:57602080-57602081
47 SERPING1 NM_000062.3(SERPING1):c.1342_1349dup (p.Glu451_Thr452insAsnTer) Duplication Pathogenic 690349 rs1590831385 GRCh37: 11:57381892-57381893
GRCh38: 11:57614419-57614420
48 SERPING1 NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) SNV Pathogenic 690348 rs1590829609 GRCh37: 11:57379196-57379196
GRCh38: 11:57611723-57611723
49 SERPING1 NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) SNV Pathogenic 690347 rs1590826703 GRCh37: 11:57373899-57373899
GRCh38: 11:57606426-57606426
50 SERPING1 NM_000062.2(SERPING1):c.1396C>T (p.Arg466Cys) SNV Pathogenic 3947 rs28940870 GRCh37: 11:57381947-57381947
GRCh38: 11:57614474-57614474

UniProtKB/Swiss-Prot genetic disease variations for Angioedema, Hereditary, Type I:

72 (show all 40)
# Symbol AA change Variation ID SNP ID
1 SERPING1 p.Gly429Arg VAR_007013
2 SERPING1 p.Val454Glu VAR_007014 rs121907949
3 SERPING1 p.Ala456Glu VAR_007015
4 SERPING1 p.Ala458Thr VAR_007016 rs121907947
5 SERPING1 p.Ala458Val VAR_007017
6 SERPING1 p.Ala465Val VAR_007018 rs121907950
7 SERPING1 p.Arg466Cys VAR_007019 rs28940870
8 SERPING1 p.Arg466His VAR_007020 rs121907948
9 SERPING1 p.Arg466Leu VAR_007021 rs121907948
10 SERPING1 p.Arg466Ser VAR_007022 rs28940870
11 SERPING1 p.Thr467Pro VAR_007023
12 SERPING1 p.Val473Met VAR_007024
13 SERPING1 p.Phe477Ser VAR_007026
14 SERPING1 p.Leu481Pro VAR_007028
15 SERPING1 p.Leu481Arg VAR_007029
16 SERPING1 p.Pro489Arg VAR_007030
17 SERPING1 p.Pro498Ser VAR_007031
18 SERPING1 p.Gly345Arg VAR_027376
19 SERPING1 p.Cys130Tyr VAR_027379
20 SERPING1 p.Thr394Pro VAR_027380
21 SERPING1 p.Asp408Val VAR_027381
22 SERPING1 p.Val473Glu VAR_027382
23 SERPING1 p.Gly493Glu VAR_027383
24 SERPING1 p.Pro498Arg VAR_027384
25 SERPING1 p.Thr118Ala VAR_068832 rs200534715
26 SERPING1 p.Tyr154Cys VAR_068833 rs281875168
27 SERPING1 p.Ser170Phe VAR_068834 rs281875169
28 SERPING1 p.Gly184Arg VAR_068835 rs281875170
29 SERPING1 p.Leu230Pro VAR_068836 rs281875171
30 SERPING1 p.Ile232Lys VAR_068837 rs281875172
31 SERPING1 p.Trp299Arg VAR_068839 rs281875173
32 SERPING1 p.Leu430Gln VAR_068840 rs281875174
33 SERPING1 p.Met441Thr VAR_068841 rs281875175
34 SERPING1 p.Leu447Pro VAR_068842 rs281875176
35 SERPING1 p.Val473Gly VAR_068843 rs281875177
36 SERPING1 p.Asp497Gly VAR_068844 rs281875178
37 SERPING1 p.Leu11Arg VAR_071701
38 SERPING1 p.Trp265Arg VAR_071702
39 SERPING1 p.Ile274Val VAR_071703
40 SERPING1 p.Gly493Arg VAR_071704

Expression for Angioedema, Hereditary, Type I

Search GEO for disease gene expression data for Angioedema, Hereditary, Type I.

Pathways for Angioedema, Hereditary, Type I

GO Terms for Angioedema, Hereditary, Type I

Cellular components related to Angioedema, Hereditary, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.16 SERPING1 PLG
2 platelet alpha granule lumen GO:0031093 8.96 SERPING1 PLG
3 collagen-containing extracellular matrix GO:0062023 8.8 SERPING1 PLG F12

Biological processes related to Angioedema, Hereditary, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.43 SERPING1 PLG F12
2 cellular protein metabolic process GO:0044267 9.4 SLC34A1 PLG
3 platelet degranulation GO:0002576 9.37 SERPING1 PLG
4 blood coagulation, intrinsic pathway GO:0007597 9.32 SERPING1 F12
5 positive regulation of fibrinolysis GO:0051919 9.16 PLG F12
6 hemostasis GO:0007599 9.13 SERPING1 PLG F12
7 fibrinolysis GO:0042730 8.8 SERPING1 PLG F12

Molecular functions related to Angioedema, Hereditary, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.96 PLG F12
2 serine-type peptidase activity GO:0008236 8.62 PLG F12

Sources for Angioedema, Hereditary, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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