HAE1
MCID: ANG068
MIFTS: 57

Angioedema, Hereditary, Type I (HAE1)

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

Aliases & Classifications for Angioedema, Hereditary, Type I

MalaCards integrated aliases for Angioedema, Hereditary, Type I:

Name: Angioedema, Hereditary, Type I 56
Hereditary Angioneurotic Edema 73 29 6
Hereditary Angioedema Type 1 58 29 6
Angioedema, Hereditary, Types I and Ii 56 13
Hane 56 73
Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor 71
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 71
Angioneurotic Edema, Hereditary; Hane 56
Hereditary Angioneurotic Edema Type 2 58
Hereditary Angioneurotic Edema Type 1 58
C1 Esterase Inhibitor, Deficiency of 56
Hereditary Angioedema Types I and Ii 71
C1 Esterase Inhibitor Deficiency 73
Angioneurotic Edema, Hereditary 56
Angioedema, Hereditary, Type 1 39
Hereditary Angioedema Type 2 58
Hereditary Angioedema Type I 71
Angioedemas, Hereditary 71
Hereditary Angioedema 73
Hae-Ii 58
Hae 2 58
Hae 1 58
Hae-I 58
Hae1 56
Hae 73

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:

56
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 56 106100
MeSH 43 D054179
MESH via Orphanet 44 C538577
ICD10 via Orphanet 33 D84.1
UMLS via Orphanet 72 C0398775 C0398776 C1862892 more
UMLS 71 C0019243 C0398775 C0398776 more

Summaries for Angioedema, Hereditary, Type I

OMIM : 56 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)

MalaCards based summary : Angioedema, Hereditary, Type I, also known as hereditary angioneurotic edema, is related to hereditary angioedema 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 Omalizumab and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include tongue, bone and small intestine, and related phenotypes are abdominal pain and paresthesia

UniProtKB/Swiss-Prot : 73 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 221)
# Related Disease Score Top Affiliating Genes
1 hereditary angioedema 31.9 SERPING1 PLG F12
2 c1 inhibitor deficiency 31.9 SERPING1 F12
3 urticaria 29.4 SERPING1 F12
4 thrombosis 28.8 PLG F12
5 angioedema 28.8 SERPING1 PLG F12
6 hereditary angioedema with normal c1inh 12.5
7 hereditary angioedema with c1inh deficiency 12.4
8 plg-related hereditary angioedema with normal c1inh 12.3
9 angpt1-related hereditary angioedema with normal c1inh 12.3
10 angioedema, hereditary, type iii 11.7
11 frasier syndrome 11.3
12 complement component 4, partial deficiency of 11.0
13 hydrops, lactic acidosis, and sideroblastic anemia 10.9
14 acquired angioedema 10.5
15 autoimmune lymphoproliferative syndrome, type v 10.4
16 lymphoma 10.4
17 autoimmune disease 10.4
18 acute pancreatitis 10.3
19 glomerulonephritis 10.3
20 marginal zone b-cell lymphoma 10.3
21 pancreatitis 10.3
22 hypertension, essential 10.3
23 hypertension, diastolic 10.3
24 osteoarthritis 10.3
25 exanthem 10.3
26 diarrhea 10.3
27 lupus erythematosus 10.3
28 leukemia, chronic lymphocytic 10.2
29 lymphoma, hodgkin, classic 10.2
30 splenic marginal zone lymphoma 10.2
31 lymphoproliferative syndrome 10.2
32 lymphocytic leukemia 10.2
33 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
34 disseminated intravascular coagulation 10.2
35 branchiootic syndrome 1 10.2
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
37 intussusception 10.2
38 systemic lupus erythematosus 10.1
39 allergic hypersensitivity disease 10.1
40 capillary leak syndrome 10.1
41 appendicitis 10.1
42 hypercholesterolemia, familial, 1 10.1
43 coronary heart disease 1 10.1
44 substance abuse 10.1
45 cataract 10.1
46 macroglossia 10.1
47 myelofibrosis 10.1
48 lymphoma, non-hodgkin, familial 10.1
49 diffuse large b-cell lymphoma 10.1
50 angioimmunoblastic t-cell lymphoma 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 33)
# 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 edema of the dorsum of hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0007514
4 dermatographic urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0011971
5 facial edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000282
6 laryngeal edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0012027
7 intestinal edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0005225
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 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
17 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
18 abnormality of the uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000172
19 inspiratory stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0005348
20 pharyngeal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0011855
21 abnormal epiglottis morphology 31 occasional (7.5%) HP:0005483
22 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
23 dyspnea 58 Frequent (79-30%)
24 erythema 31 HP:0010783
25 urticaria 58 Very frequent (99-80%)
26 autoimmunity 31 HP:0002960
27 abnormality of the soft palate 58 Occasional (29-5%)
28 peripheral axonal neuropathy 31 HP:0003477
29 angioedema 31 HP:0100665
30 abnormal respiratory system morphology 58 Very frequent (99-80%)
31 abnormality of the larynx 31 HP:0001600
32 axonal degeneration 31 HP:0040078
33 abnormality of the epiglottis 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

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 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omalizumab Approved, Investigational Phase 4 242138-07-4
2
Lactitol Investigational Phase 4 585-88-6, 585-86-4 493591
3 Immunoglobulins Phase 4
4 Antibodies Phase 4
5 Rho(D) Immune Globulin Phase 4
6 gamma-Globulins Phase 4
7 Immunoglobulins, Intravenous Phase 4
8 Respiratory System Agents Phase 4
9 Anti-Asthmatic Agents Phase 4
10 Anti-Allergic Agents Phase 4
11
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
12
Icatibant Approved, Investigational Phase 3 138614-30-9, 130308-48-4 71364
13
tannic acid Approved Phase 3 1401-55-4
14
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
15
Tranexamic Acid Approved Phase 3 1197-18-8 5526
16
Bradykinin Investigational Phase 3 58-82-2 439201
17 Kininogens Phase 3
18 Vasodilator Agents Phase 3
19 Bradykinin Receptor Antagonists Phase 3
20 Plasma Kallikrein Phase 3
21 Kallikreins Phase 3
22 Passionflower Phase 3
23 Coagulants Phase 3
24 Fibrinolytic Agents Phase 3
25 Antifibrinolytic Agents Phase 3
26 Hemostatics Phase 3
27 Pharmaceutical Solutions Phase 3
28 Antibodies, Monoclonal Phase 3
29
Danazol Approved Phase 2 17230-88-5 28417
30
Cortisone Experimental Phase 2 53-06-5 222786
31 Fertility Agents Phase 2
32 Hormone Antagonists Phase 2
33 Hormones Phase 2
34 Selective Estrogen Receptor Modulators Phase 2
35 Estrogen Antagonists Phase 2
36 Estrogen Receptor Antagonists Phase 2
37 Estrogen Receptor Modulators Phase 2
38 Estrogens Phase 2
39 Angiotensin-Converting Enzyme Inhibitors Phase 2
40 Plasminogen Phase 2
41
Oxandrolone Approved, Investigational Phase 1 53-39-4 5878
42
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
43
Digoxin Approved Phase 1 20830-75-5 30322 2724385
44
Tolbutamide Approved, Investigational Phase 1 64-77-7 5505
45
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
46
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
47
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
48
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
49 Anabolic Agents Phase 1
50 Androgens Phase 1

Interventional clinical trials:

(show top 50) (show all 95)
# 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 Hereditary Angioedema : Interest From the Use of a Call Center During the Attacks. Completed NCT01679912 Phase 4
4 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
5 A Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
6 A Phase IV, Randomized, Double-Blind, Placebo-Controlled Exploratory Study of Xolair (Omalizumab) for Treatment of Idiopathic Angioedema in Patients Who Remain Symptomatic Despite Current Therapy Recruiting NCT02966314 Phase 4 Omalizumab;Placebos
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 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
11 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
12 An Open-Label Study of Icatibant in Japanese Subjects With Acute Attacks of Hereditary Angioedema. Completed NCT03888755 Phase 3 Icatibant
13 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
14 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
15 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
16 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
17 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),
18 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
19 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
20 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
21 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
22 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
23 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
24 Open-label Patient Continuation of DX-88 (Ecallantide) for Acute Hereditary Angioedema Attacks Completed NCT00456508 Phase 3 ecallantide
25 Pharmacokinetics, Clinical Efficacy and Safety of C1 Inhibitor Concentrate (C1-Esteraseremmer-N) for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
26 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
27 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
28 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
29 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
30 Pharmacokinetics, Clinical Efficacy and Safety of C1 Inhibitor Concentrate (C1-Esteraseremmer-N) for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
31 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
32 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)
33 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
34 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
35 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)
36 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
37 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)
38 An Open-label Study to Evaluate the Long-term Safety of Daily Oral BCX7353 in Subjects With Type I and II Hereditary Angioedema Recruiting NCT03472040 Phase 2, Phase 3 BCX7353
39 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 Recruiting NCT04070326 Phase 3 Lanadelumab
40 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
41 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
42 A Phase 3 Multi-center, Open-label Study to Evaluate the Efficacy and Safety of Lanadelumab (SHP643) in Japanese Subjects With Hereditary Angioedema Not yet recruiting NCT04180163 Phase 3 Lanadelumab
43 OPuS-4: An Open-label Study to Evaluate the Long-term Safety of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
44 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
45 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
46 Pharmacokinetics, Clinical Efficacy and Safety of C1 Inhibitor Concentrate (C1-Esteraseremmer-N) for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00119431 Phase 2 C1 inhibitor concentrate
47 An Open-label, Cross-over, Dose-ranging Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of the Subcutaneous Administration of a Human Plasma-derived C1-esterase Inhibitor in Subjects With Hereditary Angioedema Completed NCT01576523 Phase 1, Phase 2
48 A Phase 2a Double-Blind Placebo-Controlled 2-Period Crossover Study to Evaluate the Safety and Efficacy of BCX4161 as a Prophylactic Treatment to Reduce the Frequency of Attacks in Subjects With Hereditary Angioedema Completed NCT01984788 Phase 2 BCX4161;Placebo
49 EDEMA2: An Open-Label Study to Assess the Efficacy and Tolerability of Repeated Doses of DX-88 (Recombinant Plasma Kallikrein Inhibitor) in Patients With Hereditary Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)
50 A Phase II Exploratory, Open-label Study of the Safety and Efficacy of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00261053 Phase 2 i.v. recombinant human C1 inhibitor

Search NIH Clinical Center for Angioedema, Hereditary, Type I

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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, Bone, Small Intestine, Thyroid, Skin, Ovary, Testes

Publications for Angioedema, Hereditary, Type I

Articles related to Angioedema, Hereditary, Type I:

(show top 50) (show all 353)
# 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. 56 6 61
2296585 1990
2
Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. 56 6 61
2723063 1989
3
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema. 56 6
23688413 2013
4
First case of homozygous C1 inhibitor deficiency. 6 56
17137866 2006
5
Gonadal mosaicism in hereditary angioedema. 6 56
16813612 2006
6
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. 6 56
8755917 1996
7
Altered C1 inhibitor genes in type I hereditary angioedema. 6 56
3587308 1987
8
Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. 61 56
8450054 1993
9
Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema. 6 61
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. 61 6
2890659 1987
12
Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema. 56 61
3818946 1987
13
[Hereditary angioneurotic edema. Apropos of 185 patients and 40 families]. 61 56
6354379 1983
14
Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema. 61 56
6833491 1983
15
Hereditary angioneurotic edema first observed as an epiglottiditis. 56 61
6824488 1983
16
Hereditary angioneurotic edema and HLA types in two Danish families. 56 61
7165360 1982
17
Plasmapheresis in hereditary angioneurotic edema and systemic lupus erythematosus. 61 56
7352788 1980
18
Tranexamic acid therapy in hereditary angioneurotic edema. 56 61
4558045 1972
19
Epsilon aminocaproic acid therapy of hereditary angioneurotic edema. A double-blind study. 61 56
4551861 1972
20
Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema. 61 56
4107267 1971
21
C1 inhibitor: evidence for decreased hepatic synthesis in hereditary angioneurotic edema. 56 61
4935379 1971
22
Hereditary angioneurotic edema. Report of a large kindred with defect in C'1 esterase inhibitor and review of the literature. 56 61
4393526 1970
23
HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS. 56 61
14277836 1965
24
DETECTION OF HEREDITARY ANGIONEUROTIC EDEMA BY DEMONSTRATION OF A REDUCTION IN THE SECOND COMPONENT OF HUMAN COMPLEMENT. 56 61
14257837 1965
25
ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE. 56 61
14223932 1964
26
Hereditary angioneurotic edema. I. Case reports and review of the literature. 61 56
14461961 1962
27
Hereditary angioneurotic edema. Report of a case with gastrointestinal manifestations. 61 56
13778063 1961
28
Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial. 56
30480729 2018
29
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. 6
22197274 2012
30
Therapeutic agents for hereditary angioedema. 56
21208116 2011
31
Therapeutic agents for hereditary angioedema. 56
21208117 2011
32
A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation. 6
20864152 2010
33
Ecallantide for the treatment of acute attacks in hereditary angioedema. 56
20818887 2010
34
Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema. 56
20818886 2010
35
Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. 56
20818888 2010
36
Hereditary angioedema--therapies old and new. 56
20818894 2010
37
Clinical practice. Hereditary angioedema. 56
18768946 2008
38
Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. 56
17502473 2007
39
Hereditary angioedema: a broad review for clinicians. 56
11700154 2001
40
A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. 56
11161971 2001
41
Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate. 56
8628358 1996
42
Hereditary angioedema. 56
8628365 1996
43
Hereditary angioneurotic oedema: current management in pregnancy. 56
7618673 1995
44
Precipitation of hereditary angioedema by infectious mononucleosis. 56
8105195 1993
45
C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema. 6
8396558 1993
46
Cystic ovaries in women affected with hereditary angioedema. 56
1333923 1992
47
C1 inhibitor hinge region mutations produce dysfunction by different mechanisms. 6
1363816 1992
48
Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. 56
1518394 1992
49
A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema. 6
1339401 1992
50
An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema. 6
1684567 1991

Variations for Angioedema, Hereditary, Type I

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

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SERPING1 NM_000062.2(SERPING1):c.597C>G (p.Tyr199Ter)SNV Pathogenic 3957 rs121907951 11:57369554-57369554 11:57602081-57602081
2 SERPING1 SERPING1, C-T, -103, PROMOTERSNV Pathogenic 3956
3 SERPING1 NM_000062.2(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp)insertion Pathogenic 3954 rs606231141 11:57381908-57381909 11:57614435-57614436
4 SERPING1 NM_000062.2(SERPING1):c.1361T>A (p.Val454Glu)SNV Pathogenic 3953 rs121907949 11:57381912-57381912 11:57614439-57614439
5 SERPING1 SERPING1, 1-BP DEL, 11698Cdeletion Pathogenic 3952
6 SERPING1 NM_000062.2(SERPING1):c.1249+1G>TSNV Pathogenic 3951 rs112565881 11:57379410-57379410 11:57611937-57611937
7 SERPING1 NM_000062.2(SERPING1):c.1264del (p.Ser422fs)deletion Pathogenic 3950 rs1554996817 11:57381815-57381815 11:57614342-57614342
8 SERPING1 NM_000062.2(SERPING1):c.1268dup (p.Tyr423Ter)duplication Pathogenic 3949 rs1554996819 11:57381819-57381819 11:57614346-57614346
9 SERPING1 NM_000062.2(SERPING1):c.1396C>A (p.Arg466Ser)SNV Pathogenic 3948 rs28940870 11:57381947-57381947 11:57614474-57614474
10 SERPING1 NM_000062.2(SERPING1):c.1396C>T (p.Arg466Cys)SNV Pathogenic 3947 rs28940870 11:57381947-57381947 11:57614474-57614474
11 SERPING1 NM_000062.2(SERPING1):c.1397G>A (p.Arg466His)SNV Pathogenic 3946 rs121907948 11:57381948-57381948 11:57614475-57614475
12 SERPING1 NM_000062.2(SERPING1):c.1372G>A (p.Ala458Thr)SNV Pathogenic 3945 rs121907947 11:57381923-57381923 11:57614450-57614450
13 SERPING1 SERPING1, EX7DELdeletion Pathogenic 3944
14 SERPING1 NM_000062.2(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer)indel Pathogenic 487526 rs1554995271 11:57369603-57369603 11:57602130-57602130
15 SERPING1 NM_000062.2(SERPING1):c.1198C>T (p.Arg400Cys)SNV Pathogenic 487525 rs201363394 11:57379358-57379358 11:57611885-57611885
16 SERPING1 NM_000062.2(SERPING1):c.1385T>G (p.Ile462Ser)SNV Pathogenic 487524 rs763451792 11:57381936-57381936 11:57614463-57614463
17 SERPING1 NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter)SNV Pathogenic 694737 11:57367424-57367424 11:57599951-57599951
18 SERPING1 NM_000062.2(SERPING1):c.1480C>T (p.Arg494Ter)SNV Pathogenic 626347 rs922149386 11:57382031-57382031 11:57614558-57614558
19 SERPING1 NM_000062.2(SERPING1):c.1420C>T (p.Gln474Ter)SNV Pathogenic 626354 rs1565174105 11:57381971-57381971 11:57614498-57614498
20 SERPING1 NM_000062.2(SERPING1):c.1106del (p.Asp369fs)deletion Pathogenic 626355 rs1565173309 11:57379266-57379266 11:57611793-57611793
21 SERPING1 NM_000062.2(SERPING1):c.1012C>T (p.Gln338Ter)SNV Pathogenic 626348 rs1565171906 11:57374003-57374003 11:57606530-57606530
22 SERPING1 NM_000062.2(SERPING1):c.674_675delinsAA (p.Phe225Ter)indel Pathogenic 626350 rs1565170364 11:57369631-57369632 11:57602158-57602159
23 SERPING1 NM_000062.2(SERPING1):c.586_589del (p.Ile196fs)deletion Pathogenic 626356 rs1565170287 11:57369542-57369545 11:57602070-57602073
24 SERPING1 NM_000062.2(SERPING1):c.342_345del (p.Thr115fs)deletion Pathogenic 626351 rs1565169621 11:57367640-57367643 11:57600169-57600172
25 SERPING1 NM_001032295.2(SERPING1):c.102_103AG[2] (p.Ser36fs)short repeat Pathogenic 626349 11:57367402-57367403 11:57599929-57599930
26 SERPING1 NM_000062.2(SERPING1):c.1247T>A (p.Leu416Ter)SNV Pathogenic 619176 rs1565173405 11:57379407-57379407 11:57611934-57611934
27 SERPING1 NM_000062.2(SERPING1):c.55A>T (p.Arg19Ter)SNV Pathogenic 619175 rs1565169419 11:57367355-57367355 11:57599882-57599882
28 PLG NM_000301.3(PLG):c.988A>G (p.Lys330Glu)SNV Pathogenic 590291 rs889957249 6:161139762-161139762 6:160718730-160718730
29 SERPING1 NM_000062.2(SERPING1):c.615dup (p.Val206fs)duplication Pathogenic 559595 rs1554995260 11:57369572-57369572 11:57602099-57602099
30 SERPING1 NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter)SNV Pathogenic 690351 11:57381997-57381997 11:57614524-57614524
31 SERPING1 NM_000062.3(SERPING1):c.1417G>A (p.Val473Met)SNV Pathogenic 690355 11:57381968-57381968 11:57614495-57614495
32 SERPING1 NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val)SNV Pathogenic 690357 11:57381924-57381924 11:57614451-57614451
33 SERPING1 NM_000062.3(SERPING1):c.1342_1349dup (p.Glu451_Thr452insAsnTer)duplication Pathogenic 690349 11:57381892-57381893 11:57614419-57614420
34 SERPING1 NM_000062.3(SERPING1):c.1180del (p.Thr394fs)deletion Pathogenic 690356 11:57379340-57379340 11:57611867-57611867
35 F12 NM_000505.3(F12):c.983C>A (p.Thr328Lys)SNV Pathogenic 1169 rs118204456 5:176831232-176831232 5:177404231-177404231
36 SERPING1 NM_000062.2(SERPING1):c.550+745_685+308deldeletion Pathogenic 252941 11:57368595-57369950 11:57601122-57602477
37 SERPING1 NM_000062.2(SERPING1):c.1A>C (p.Met1Leu)SNV Pathogenic 626353 rs1565168898 11:57365744-57365744 11:57598271-57598271
38 SERPING1 NM_000062.2(SERPING1):c.1A>G (p.Met1Val)SNV Pathogenic 626352 rs1565168898 11:57365744-57365744 11:57598271-57598271
39 SERPING1 NM_000062.2(SERPING1):c.953C>G (p.Ser318Ter)SNV Pathogenic 252942 rs1554995860 11:57373944-57373944 11:57606471-57606471
40 SERPING1 NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter)SNV Pathogenic 690348 11:57379196-57379196 11:57611723-57611723
41 SERPING1 NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser)SNV Pathogenic 690347 11:57373899-57373899 11:57606426-57606426
42 SERPING1 NM_000062.3(SERPING1):c.600dup (p.Lys201fs)duplication Pathogenic 690350 11:57369553-57369554 11:57602080-57602081
43 SERPING1 NM_000062.3(SERPING1):c.508del (p.Ser170fs)deletion Pathogenic 690354 11:57367805-57367805 11:57600332-57600332
44 SERPING1 NM_000062.3(SERPING1):c.347del (p.Gln116fs)deletion Pathogenic 690353 11:57367647-57367647 11:57600174-57600174
45 SERPING1 NM_000062.2(SERPING1):c.550G>A (p.Gly184Arg)SNV Pathogenic/Likely pathogenic 68253 rs281875170 11:57367850-57367850 11:57600377-57600377
46 SERPING1 NM_001032295.2(SERPING1):c.1351_1352GA[1] (p.Glu451fs)short repeat Pathogenic/Likely pathogenic 503707 rs1554996833 11:57381904-57381905 11:57614431-57614432
47 SERPING1 NM_000062.2(SERPING1):c.491_502del (p.Glu164_Met167del)deletion Likely pathogenic 633776 11:57367791-57367802 11:57600318-57600329
48 SERPING1 NM_000062.3(SERPING1):c.1104del (p.Asp369fs)deletion Likely pathogenic 692101 11:57379263-57379263 11:57611790-57611790
49 SERPING1 NM_000062.2(SERPING1):c.871A>C (p.Asn291His)SNV Likely pathogenic 378573 rs1057520366 11:57373668-57373668 11:57606195-57606195
50 SERPING1 NM_000062.3(SERPING1):c.878T>C (p.Ile293Thr)SNV Likely pathogenic 690346 11:57373675-57373675 11:57606202-57606202

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

73 (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 extracellular region GO:0005576 9.54 SERPING1 PLG F12
2 extracellular exosome GO:0070062 9.5 SERPING1 PLG F12
3 extracellular space GO:0005615 9.43 SERPING1 PLG F12
4 blood microparticle GO:0072562 9.16 SERPING1 PLG
5 platelet alpha granule lumen GO:0031093 8.96 SERPING1 PLG
6 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 platelet degranulation GO:0002576 9.37 SERPING1 PLG
3 blood coagulation, intrinsic pathway GO:0007597 9.32 SERPING1 F12
4 positive regulation of fibrinolysis GO:0051919 9.16 PLG F12
5 hemostasis GO:0007599 9.13 SERPING1 PLG F12
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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