MCID: HRD002
MIFTS: 59

Hereditary Angioedema

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

Aliases & Classifications for Hereditary Angioedema

MalaCards integrated aliases for Hereditary Angioedema:

Name: Hereditary Angioedema 12 72 49 24 55 36 14
Hereditary Angioneurotic Edema 12 49 24 55
Hane 12 49 24
Hae 49 24 55
Angioedemas, Hereditary 41 69
Angioedema, Hereditary 49 51
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 69
Hereditary Non Histamine-Induced Angioedema 55
Hereditary Bradykinine-Induced Angioedema 55
Hereditary Angioedema Types I and Ii 69
Deficiency of C1 Esterase Inhibitor 49
C1 Esterase Inhibitor Deficiency 24
Hereditary Angioedema Type 1 49
Familial Angioneurotic Edema 55
C1 Inhibitor Deficiency 24

Characteristics:

Orphanet epidemiological data:

55
hereditary angioedema
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (Denmark),1-9/100000 (Norway),1-9/100000 (Spain); Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:14735
MeSH 41 D054179
NCIt 46 C84758
SNOMED-CT 64 82966003
Orphanet 55 ORPHA91378
UMLS via Orphanet 70 C0019243
ICD10 via Orphanet 33 D84.1
KEGG 36 H01006

Summaries for Hereditary Angioedema

NIH Rare Diseases : 49 Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. This condition is inherited in an autosomal dominant pattern.There are three types of HAE, types I, II, and III. The types can be distinguished by their underlying causes and levels of C1 inhibitor in the blood. Type I and II are caused by mutations in the SERPING1 gene. Some cases of type III are associated with mutations in the F12 gene. Other genes are likely to be identified as the cause of other cases of HAE type III. Last updated: 5/25/2011

MalaCards based summary : Hereditary Angioedema, also known as hereditary angioneurotic edema, is related to angioedema, hereditary, type i and c1 inhibitor deficiency, and has symptoms including facial edema, ascites and abdominal pain. An important gene associated with Hereditary Angioedema is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Complement and coagulation cascades and Collagen chain trimerization. The drugs Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and endothelial, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.

Wikipedia : 72 Hereditary angioedema (HAE) is disorder that results in recurrent attacks of severe swelling. The... more...

Related Diseases for Hereditary Angioedema

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 Hereditary Angioedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 angioedema, hereditary, type i 33.6 F12 SERPING1
2 c1 inhibitor deficiency 30.9 BDKRB2 C1S KLKB1 KNG1 MASP2 SERPING1
3 acquired angioedema 30.6 C1S SERPING1
4 hydrops, lactic acidosis, and sideroblastic anemia 30.6 C1S KNG1 SERPING1
5 allergic urticaria 30.1 KNG1 SERPING1
6 capillary leak syndrome 29.9 C1S C4A
7 angioedema 29.5 ACE BDKRB2 C1S F12 KLKB1 KNG1
8 lupus erythematosus 29.4 C1S C4A C4B
9 glomerulonephritis 29.1 C1S C4A C4B
10 adult respiratory distress syndrome 28.9 ACE C4A
11 angioedema, hereditary, type iii 12.2
12 complement component 4, partial deficiency of 10.5
13 episodic pain syndrome, familial, 1 10.3
14 laryngitis 10.2
15 complement deficiency 10.2 C4A SERPING1
16 progressive relapsing multiple sclerosis 10.2 MASP1 MASP2
17 angina pectoris 10.1 ACE KNG1
18 pancreatitis 10.1
19 3mc syndrome 10.1 MASP1 MASP2
20 pleural disease 10.0 KLKB1 KNG1
21 blood group, i system 10.0
22 acute pancreatitis 10.0
23 endotheliitis 10.0
24 louse-borne relapsing fever 10.0 C4B SERPING1
25 anxiety 9.9
26 urticaria 9.9
27 juvenile dermatitis herpetiformis 9.9 C4A C4B
28 pediatric systemic lupus erythematosus 9.9 C4A C4B
29 rheumatic heart disease 9.9 ACE MASP2
30 systemic lupus erythematosus 9.9
31 celiac disease 1 9.9
32 aging 9.9
33 arthritis 9.9
34 compartment syndrome 9.9
35 hypersensitivity reaction type iii disease 9.8 C4A C4B
36 acute mountain sickness 9.8 ACE BDKRB2
37 indeterminate leprosy 9.8 C4A C4B
38 malignant essential hypertension 9.8 ACE KLKB1 KNG1
39 renal hypertension 9.8 ACE KLKB1 KNG1
40 immunodeficiency due to a classical component pathway complement deficiency 9.7 C1S C4A C4B
41 hepatocellular carcinoma 9.7
42 migraine with or without aura 1 9.7
43 neutrophilia, hereditary 9.7
44 pancreatitis, hereditary 9.7
45 pulmonary hypertension, primary, 1 9.7
46 lung cancer 9.7
47 fabry disease 9.7
48 helicobacter pylori infection 9.7
49 psoriatic arthritis 9.7
50 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7

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



Diseases related to Hereditary Angioedema

Symptoms & Phenotypes for Hereditary Angioedema

Human phenotypes related to Hereditary Angioedema:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial edema 55 31 occasional (7.5%) Occasional (29-5%) HP:0000282
2 ascites 55 31 occasional (7.5%) Occasional (29-5%) HP:0001541
3 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
4 intestinal obstruction 55 31 occasional (7.5%) Occasional (29-5%) HP:0005214
5 intestinal edema 55 31 occasional (7.5%) Occasional (29-5%) HP:0005225
6 laryngeal edema 55 31 occasional (7.5%) Occasional (29-5%) HP:0012027
7 angioedema 55 31 hallmark (90%) Very frequent (99-80%) HP:0100665
8 edema 55 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Hereditary Angioedema according to GeneCards Suite gene sharing:

25 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.97 C4B C4A SERPING1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.97 KNG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.97 C4B C4A KNG1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.97 KNG1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.97 C4B C4A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.97 KNG1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.97 C4B C4A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.97 KNG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.97 C4B C4A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.97 SERPING1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.97 SERPING1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.97 C4B C4A SERPING1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.97 SERPING1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.97 SERPING1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.97 SERPING1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.97 C4B C4A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.97 C4B C4A
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.56 C4B C4A
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.56 C4B C4A SERPING1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.56 C4B C4A SERPING1

Drugs & Therapeutics for Hereditary Angioedema

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

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved, Investigational Phase 4,Phase 3,Phase 1 130308-48-4, 138614-30-9 71364
2
Omalizumab Approved, Investigational Phase 4 242138-07-4
3
Bradykinin Investigational Phase 4,Phase 3,Phase 1 58-82-2 439201
4
Lactitol Investigational Phase 4 585-86-4 3871
5 Analgesics Phase 4,Phase 3,Phase 1
6 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
7 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1
9 Antirheumatic Agents Phase 4,Phase 3,Phase 1
10 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
11 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
12 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
14 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Kininogens Phase 4,Phase 3,Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
17 Vasodilator Agents Phase 4,Phase 3,Phase 1
18 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
19 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
20 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
21 Antibodies Phase 4,Phase 1
22 Immunoglobulins Phase 4,Phase 1
23 Anti-Allergic Agents Phase 4
24 Anti-Asthmatic Agents Phase 4
25 Respiratory System Agents Phase 4
26 histidine Nutraceutical Phase 4
27
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
28
Tranexamic Acid Approved Phase 3 1197-18-8 5526
29 tannic acid Approved, Nutraceutical Phase 3
30 Pharmaceutical Solutions Phase 3,Phase 2
31 Antifibrinolytic Agents Phase 3
32 Coagulants Phase 3,Phase 2
33 Fibrinolytic Agents Phase 3
34 Hemostatics Phase 3
35 Kallikreins Phase 3,Phase 2,Phase 1
36 Plasma Kallikrein Phase 3,Phase 2,Phase 1
37 Passionflower Nutraceutical Phase 3
38
Danazol Approved Phase 2 17230-88-5 28417
39 Estrogen Antagonists Phase 2
40 Estrogen Receptor Modulators Phase 2
41 Estrogens Phase 2
42 Hormone Antagonists Phase 2,Phase 1
43 Hormones Phase 2,Phase 1
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
45 Fertility Agents Phase 2
46
Digoxin Approved Phase 1 20830-75-5 2724385 30322
47
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
48
Dextromethorphan Approved Phase 1 125-71-3 5362449 5360696
49
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
50
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594

Interventional clinical trials:

(show top 50) (show all 78)

# Name Status NCT ID Phase Drugs
1 A Call Center During HAE Attacks (SOS HAE) Completed NCT01679912 Phase 4
2 Efficacy, Safety and Tolerability of Icatibant for the Treatment of HAE Completed NCT01457430 Phase 4 Icatibant
3 A Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE Completed NCT00914966 Phase 4
4 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
5 Treatment of Idiopathic Angioedema With Xolair as Add-on Therapy Recruiting NCT02966314 Phase 4 Omalizumab;Placebos
6 C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation Withdrawn NCT01151735 Phase 4 C-1-esterase;C-1-esterase;placebo
7 A Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT01912456 Phase 3
8 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00438815 Phase 3
9 Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1 Esterase Inhibitor for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema Completed NCT02584959 Phase 3 C1 esterase inhibitor [human] liquid;Placebo
10 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
11 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
12 A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT02316353 Phase 3
13 Efficacy and Safety Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Completed NCT02586805 Phase 3 DX-2930 - 300mg/2wk;DX-2930 - 300mg/4wk;DX-2930 - 150mg/4wk;Placebo
14 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
15 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
16 Efficacy Study of DX-88 (Ecallantide) to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00457015 Phase 3 ecallantide;Phosphate Buffer Saline (PBS), pH 7.0
17 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
18 Study 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 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
20 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
21 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
22 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 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
24 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
25 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
26 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
27 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
28 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
29 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
30 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
31 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
32 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
33 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
34 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Active, not recruiting NCT01386658 Phase 3 icatibant
35 Long-term Safety and Efficacy Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Active, not recruiting NCT02741596 Phase 3 DX-2930;DX-2930
36 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
37 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
38 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
39 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
40 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
41 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
42 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
43 A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor Completed NCT02247739 Phase 2
44 EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)
45 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
46 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
47 Subcutaneous CINRYZE With Recombinant Human Hyaluronidase for Prevention of Angioedema Attacks Completed NCT01756157 Phase 2
48 Kinetics, Efficacy and Safety of C1-Esteraseremmer-N Completed NCT00119431 Phase 2 C1 inhibitor concentrate
49 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
50 Efficacy and Safety Study to Evaluate Two Doses of Oral DMI-5207 in Adult Subjects With Diabetic Macular Edema Completed NCT02002403 Phase 2 Danazol

Search NIH Clinical Center for Hereditary Angioedema

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: angioedemas, hereditary

Genetic Tests for Hereditary Angioedema

Anatomical Context for Hereditary Angioedema

MalaCards organs/tissues related to Hereditary Angioedema:

38
Skin, Bone, Endothelial, Liver, Colon, Testes, Monocytes

Publications for Hereditary Angioedema

Articles related to Hereditary Angioedema:

(show top 50) (show all 718)
# Title Authors Year
1
Health-Related Quality-of-Life with Subcutaneous C1-inhibitor for Prevention of Attacks of Hereditary Angioedema. ( 29391286 )
2018
2
Hereditary Angioedema with Normal C1 Inhibitor: Four Types and Counting. ( 29410040 )
2018
3
The international WAO/EAACI guideline for the management of hereditary angioedema - the 2017 revision and update. ( 29318628 )
2018
4
Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH. ( 29439936 )
2018
5
Plasma Prekallikrein: Its Role in Hereditary Angioedema and Health and Disease. ( 29423395 )
2018
6
Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4. ( 29058329 )
2018
7
Evaluating satisfaction of patients with hereditary angioedema with their past and present treatments: Implications for future therapies. ( 29279063 )
2018
8
New Treatments for Hereditary Angioedema. ( 29357215 )
2018
9
Investigational drugs in phase I and phase II clinical trials for hereditary angioedema. ( 29226721 )
2018
10
Exposure-Response Model of Subcutaneous C1-Inhibitor Concentrate to Estimate the Risk of Attacks in Patients With Hereditary Angioedema. ( 29316335 )
2018
11
Outcomes of long term treatments of type I hereditary angioedema in a Turkish family. ( 29166502 )
2017
12
Emerging Therapies in Hereditary Angioedema. ( 28687111 )
2017
13
Recombinant human C1 esterase inhibitor for acute hereditary angioedema attacks with upper airway involvement. ( 28903805 )
2017
14
Disease Severity, Activity, Impact, and Control and How to Assess Them in Patients with Hereditary Angioedema. ( 29255709 )
2017
15
Comparison of the Frequency of Angioedema Attack, before and during Pregnancy, in a Patient with Type I Hereditary Angioedema. ( 29093422 )
2017
16
Acquired Arnold-Chiary malformation in a 16-year-old patient with hereditary angioedema. ( 28881398 )
2017
17
A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation. ( 27826968 )
2017
18
Short-term prophylactic use of C1-inhibitor concentrate in hereditary angioedema: Findings from an international patient registry. ( 27865714 )
2017
19
Treatment of hereditary angioedema due to C1 inhibitor deficiency in Argentina. ( 28825570 )
2017
20
Mimicker of hereditary angioedema: Idiopathic systemic capillary leak syndrome successfully treated with intravenous immunoglobulin. ( 28377172 )
2017
21
Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency. ( 28069032 )
2017
22
The Search for Biomarkers in Hereditary Angioedema. ( 29214154 )
2017
23
Pharmacoeconomics of Orphan Disease Treatment with a Focus on Hereditary Angioedema. ( 28687113 )
2017
24
Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema. ( 28194776 )
2017
25
Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism. ( 28888847 )
2017
26
Hereditary Angioedema: An Overlooked Cause of Recurrent Abdominal Pain and Free Peritoneal Fluid. ( 28780207 )
2017
27
Prophylactic Therapy for Hereditary Angioedema. ( 28687109 )
2017
28
Cleaved kininogen as a biomarker for bradykinin release in hereditary angioedema. ( 28782632 )
2017
29
Pediatric hereditary angioedema: an update. ( 28781749 )
2017
30
An ABC of the Warning Signs of Hereditary Angioedema. ( 28950264 )
2017
31
The relationship between anxiety and quality of life in children with hereditary angioedema. ( 28692169 )
2017
32
Pregnancy and Postpartum in Hereditary Angioedema With C1 Inhibitor Deficit in Women Who Have No Access to Therapy. ( 29057741 )
2017
33
The Complex Interaction Between Polycystic Ovary Syndrome and Hereditary Angioedema: Case Reports and Review of the Literature. ( 28715060 )
2017
34
The role of the complement system in hereditary angioedema. ( 28595743 )
2017
35
Hereditary angioedema with a mutation in the plasminogen gene. ( 28795768 )
2017
36
Endocan: A Novel Marker of Endothelial Dysfunction in C1-Inhibitor-Deficient Hereditary Angioedema. ( 29059678 )
2017
37
Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1). ( 28905884 )
2017
38
Manifestations of hereditary angioedema. ( 28007084 )
2017
39
Breakthrough attacks in patients with hereditary angioedema receiving long-term prophylaxis are responsive to icatibant: findings from the Icatibant Outcome Survey. ( 28690642 )
2017
40
Complement factor C4 activation in patients with hereditary angioedema. ( 28412283 )
2017
41
Pharmacological Management of Hereditary Angioedema with C1-Inhibitor Deficiency in Pediatric Patients. ( 29214395 )
2017
42
Health-related quality of life in relation to disease activity in adults with hereditary angioedema in Sweden. ( 28855002 )
2017
43
Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII). ( 27905115 )
2017
44
Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment. ( 28687110 )
2017
45
New Hereditary Angioedema Therapy. ( 28763531 )
2017
46
Hereditary angioedema: Assessing the hypothesis for underlying autonomic dysfunction. ( 29107952 )
2017
47
Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families. ( 29128335 )
2017
48
Efficacy of recombinant human C1 esterase inhibitor for the treatment of severe hereditary angioedema attacks. ( 28874235 )
2017
49
Efficacy of Omalizumab in a Patient with Angioedema Clinically Resembling a Hereditary Angioedema. ( 27274639 )
2016
50
Atrial natriuretic peptide as a novel biomarker of hereditary angioedema. ( 26960949 )
2016

Variations for Hereditary Angioedema

ClinVar genetic disease variations for Hereditary Angioedema:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.983C> A (p.Thr328Lys) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
2 SERPING1 SERPING1, EX7DEL deletion Pathogenic
3 SERPING1 NM_000062.2(SERPING1): c.1268dup (p.Tyr423Terfs) duplication Pathogenic GRCh38 Chromosome 11, 57614346: 57614346
4 SERPING1 NM_000062.2(SERPING1): c.1264delT (p.Ser422Leufs) deletion Pathogenic GRCh38 Chromosome 11, 57614342: 57614342
5 SERPING1 NM_000062.2(SERPING1): c.1249+1G> T single nucleotide variant Pathogenic rs112565881 GRCh38 Chromosome 11, 57611937: 57611937
6 SERPING1 SERPING1, 1-BP DEL, 11698C deletion Pathogenic
7 SERPING1 NM_000062.2(SERPING1): c.597C> G (p.Tyr199Ter) single nucleotide variant Pathogenic rs121907951 GRCh37 Chromosome 11, 57369554: 57369554
8 SERPING1 NG_009625.1: g.8569_9924del1356 deletion Pathogenic GRCh38 Chromosome 11, 57601122: 57602477
9 SERPING1 NM_000062.2(SERPING1): c.953C> G (p.Ser318Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 57373944: 57373944
10 SERPING1 NM_000062.2(SERPING1): c.1385T> G (p.Ile462Ser) single nucleotide variant Pathogenic rs763451792 GRCh38 Chromosome 11, 57614463: 57614463
11 SERPING1 NM_000062.2(SERPING1): c.1198C> T (p.Arg400Cys) single nucleotide variant Pathogenic rs201363394 GRCh38 Chromosome 11, 57611885: 57611885
12 SERPING1 NM_000062.2(SERPING1): c.646delAinsTCAGTGTCGTG (p.Lys216Serfs) indel Pathogenic GRCh38 Chromosome 11, 57602130: 57602130

Expression for Hereditary Angioedema

Search GEO for disease gene expression data for Hereditary Angioedema.

Pathways for Hereditary Angioedema

Pathways related to Hereditary Angioedema according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Hereditary Angioedema according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 F12 KLKB1 KNG1 XPNPEP2
2
Show member pathways
11.91 F12 KLKB1 KNG1 SERPING1
3
Show member pathways
11.88 C1S C4A C4B MASP1 MASP2
4
Show member pathways
11.68 C1S C4A C4B MASP1 MASP2
5
Show member pathways
11.56 C1S C4A C4B MASP1 MASP2 SERPING1
6 11.55 C1S C4A C4B SERPING1
7
Show member pathways
11.54 ACE BDKRB2 KNG1
8 11.47 BDKRB2 C1S C4A C4B F12 KLKB1
9 11.3 F12 KLKB1 SERPING1
10 11.3 C1S C4A C4B MASP1 MASP2
11 11.18 F12 KLKB1

GO Terms for Hereditary Angioedema

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 ACE C1S C4A C4B F12 KLKB1
2 extracellular space GO:0005615 9.61 ACE C4A C4B F12 KLKB1 KNG1
3 blood microparticle GO:0072562 9.55 C1S C4A C4B KNG1 SERPING1
4 extracellular region GO:0005576 9.36 ACE C1S C4A C4B F12 KLKB1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.92 BDKRB2 C4A C4B KLKB1 KNG1
2 immune system process GO:0002376 9.91 C1S C4A C4B MASP1 MASP2 SERPING1
3 blood coagulation GO:0007596 9.85 F12 KLKB1 KNG1 SERPING1
4 negative regulation of endopeptidase activity GO:0010951 9.8 C4A C4B KNG1 SERPING1
5 innate immune response GO:0045087 9.8 C1S C4A C4B F12 MASP1 MASP2
6 regulation of complement activation GO:0030449 9.78 C1S C4A C4B SERPING1
7 complement activation, classical pathway GO:0006958 9.72 C1S C4A C4B MASP2 SERPING1
8 hemostasis GO:0007599 9.67 F12 KLKB1 KNG1 SERPING1
9 fibrinolysis GO:0042730 9.63 F12 KLKB1 SERPING1
10 blood circulation GO:0008015 9.61 BDKRB2 SERPING1
11 arachidonic acid secretion GO:0050482 9.6 ACE BDKRB2
12 regulation of vasoconstriction GO:0019229 9.59 ACE BDKRB2
13 regulation of blood coagulation GO:0030193 9.58 F12 SERPING1
14 vasodilation GO:0042311 9.58 BDKRB2 KNG1
15 complement activation, lectin pathway GO:0001867 9.58 C1S MASP1 MASP2
16 zymogen activation GO:0031638 9.57 F12 KLKB1
17 positive regulation of apoptotic cell clearance GO:2000427 9.56 C4A C4B
18 complement activation GO:0006956 9.55 C1S C4A C4B MASP1 MASP2
19 positive regulation of fibrinolysis GO:0051919 9.54 F12 KLKB1
20 Factor XII activation GO:0002542 9.51 F12 KLKB1
21 proteolysis GO:0006508 9.28 ACE C1S C4A C4B F12 KLKB1
22 blood coagulation, intrinsic pathway GO:0007597 9.26 F12 KLKB1 KNG1 SERPING1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 ACE C1S F12 KLKB1 MASP1 MASP2
2 calcium ion binding GO:0005509 9.67 C1S F12 MASP1 MASP2
3 serine-type peptidase activity GO:0008236 9.55 C1S F12 KLKB1 MASP1 MASP2
4 peptidase activity GO:0008233 9.5 ACE C1S F12 KLKB1 MASP1 MASP2
5 endopeptidase inhibitor activity GO:0004866 9.32 C4A C4B
6 serine-type endopeptidase activity GO:0004252 9.17 C1S C4A C4B F12 KLKB1 MASP1

Sources for Hereditary Angioedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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