MCID: HRD002
MIFTS: 56

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 50 24 25 56 14
Hereditary Angioneurotic Edema 12 50 24 25 56
Hane 12 50 25
Hae 50 25 56
C1 Esterase Inhibitor Deficiency 24 25
Angioedemas, Hereditary 42 69
Angioedema, Hereditary 50 52
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 69
Hereditary Non Histamine-Induced Angioedema 56
Hereditary Bradykinine-Induced Angioedema 56
Hereditary Angioedema Types I and Ii 69
Deficiency of C1 Esterase Inhibitor 50
Hereditary Angioedema, Type I 24
Hereditary Angioedema Type 1 50
Familial Angioneurotic Edema 56
C1 Inhibitor Deficiency 25

Characteristics:

Orphanet epidemiological data:

56
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 42 D054179
NCIt 47 C84758
SNOMED-CT 64 82966003
Orphanet 56 ORPHA91378
UMLS via Orphanet 70 C0019243
ICD10 via Orphanet 34 D84.1
UMLS 69 C0019243

Summaries for Hereditary Angioedema

NIH Rare Diseases : 50 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 and angioedema, hereditary, type iii, and has symptoms including abdominal pain, intestinal obstruction and ascites. An important gene associated with Hereditary Angioedema is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Collagen chain trimerization and Formation of Fibrin Clot (Clotting Cascade). The drugs Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and endothelial, and related phenotype is Increased shRNA abundance (Z-score > 2).

Genetics Home Reference : 25 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.

CDC : 3 CDC's Health Alert Network (HAN) is CDC's primary method of sharing cleared information about urgent public health incidents with public information officers; federal, state, territorial, and local public health practitioners; clinicians; and public health laboratories.

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

Related Diseases for Hereditary Angioedema

Diseases in the Angioedema family:

Angioedema, Hereditary, Type Iii Angioedema, Hereditary, Types I and Ii
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 85)
id Related Disease Score Top Affiliating Genes
1 angioedema 32.1 C1S F12 SERPING1
2 angioedema, hereditary, type iii 11.8
3 angioedema, hereditary, types i and ii 11.8
4 c1 inhibitor deficiency 11.3
5 frasier syndrome 10.9
6 complement component 4, partial deficiency of 10.7 F12 SERPING1
7 acquired hemophilia 10.6 C1S SERPING1
8 acute cervicitis 10.6 KNG1 SERPING1
9 epidermolysis bullosa simplex, weber-cockayne type 10.5 C1S MASP2
10 bardet-biedl syndrome 17 10.3 C1S KNG1 SERPING1
11 labyrinthine bilateral reactive loss 10.3 C1S C4A
12 chronic diarrhea due to guanylate cyclase 2c overactivity 10.3 ACE KNG1
13 gastric cardia carcinoma 10.2 C4A SERPING1
14 cicatricial lagophthalmos 10.2 C4B SERPING1
15 arthus reaction 10.2 KLKB1 KNG1
16 laryngitis 10.2
17 hemochromatosis 10.1 C4A C4B
18 gout susceptibility 4 10.0 C4A C4B
19 puerperal pulmonary embolism 10.0 C4A C4B
20 pancreatitis 10.0
21 humero-ulnar synostosis 10.0 C4A C4B
22 persistent mullerian duct syndrome 10.0 MASP1 MASP2
23 lupus erythematosus 9.9
24 acute pancreatitis 9.9
25 acquired angioedema 9.9
26 voyeurism 9.9 ACE KLKB1 KNG1
27 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.9 ACE BDKRB2
28 broad ligament malignant neoplasm 9.9 ACE KLKB1 KNG1
29 dermatomycosis 9.9 C4A C4B
30 adams-oliver syndrome 9.9 MASP1 MASP2
31 pericardium disease 9.9 ACE MASP2
32 urticaria 9.9
33 endotheliitis 9.9
34 alcohol abuse 9.8 ACE C4A
35 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 9.8 C1S C4A C4B
36 compartment syndrome 9.8
37 celiac disease 9.8
38 arthritis 9.8
39 atherosclerosis 9.8
40 systemic lupus erythematosus 9.8
41 chronic erythremia 9.8 C4A C4B
42 granuloma annulare 9.7 C1S C4A C4B
43 pancreatitis, hereditary 9.6
44 allergic urticaria 9.6
45 aortitis 9.6
46 recurrent acute pancreatitis 9.6
47 hypoparathyroidism 9.6
48 discoid lupus erythematosus 9.6
49 bacteriuria 9.6
50 thyroiditis 9.6

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:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
2 intestinal obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0005214
3 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
4 angioedema 56 32 hallmark (90%) Very frequent (99-80%) HP:0100665
5 facial edema 56 32 occasional (7.5%) Occasional (29-5%) HP:0000282
6 laryngeal edema 56 32 occasional (7.5%) Occasional (29-5%) HP:0012027
7 intestinal edema 56 32 occasional (7.5%) Occasional (29-5%) HP:0005225
8 edema 56 Very frequent (99-80%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.97 C4B SERPING1 C4A
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 KNG1 C4B C4A
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 C4A C4B
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 SERPING1 C4A
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 C4A C4B
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 C4A C4B
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.56 C4A C4B SERPING1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.56 C4A C4B SERPING1

Drugs & Therapeutics for Hereditary Angioedema

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

(show top 50) (show all 78)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved Phase 4,Phase 3,Phase 1 138614-30-9, 130308-48-4 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
Tranexamic Acid Approved Phase 3 1197-18-8 5526
28
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
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
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
47
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
48
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
49
Tolbutamide Approved Phase 1 64-77-7 5505
50
Digoxin Approved Phase 1 20830-75-5 30322 2724385

Interventional clinical trials:

(show top 50) (show all 79)

id 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 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
10 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
11 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
12 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
13 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
14 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
15 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
16 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
17 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
18 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
19 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
20 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
21 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
22 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
23 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
24 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
25 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
26 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
27 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
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 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
30 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
31 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
32 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
33 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Active, not recruiting NCT01386658 Phase 3 icatibant
34 A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Active, not recruiting NCT02316353 Phase 3
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 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
39 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
40 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
41 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
42 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
43 EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)
44 A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor Completed NCT02247739 Phase 2
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 Subcutaneous CINRYZE With Recombinant Human Hyaluronidase for Prevention of Angioedema Attacks Completed NCT01756157 Phase 2
47 Kinetics, Efficacy and Safety of C1-Esteraseremmer-N Completed NCT00119431 Phase 2 C1 inhibitor concentrate
48 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
49 Efficacy and Safety Study to Evaluate Two Doses of Oral DMI-5207 in Adult Subjects With Diabetic Macular Edema Completed NCT02002403 Phase 2 Danazol
50 Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary Angioedema Recruiting NCT01832896 Phase 2 Ecallantide subcutaneous dosing

Search NIH Clinical Center for Hereditary Angioedema

Cochrane evidence based reviews: angioedemas, hereditary

Genetic Tests for Hereditary Angioedema

Genetic tests related to Hereditary Angioedema:

id Genetic test Affiliating Genes
1 Hereditary Angioedema 24 SERPING1

Anatomical Context for Hereditary Angioedema

MalaCards organs/tissues related to Hereditary Angioedema:

39
Skin, Bone, Endothelial, Testes, Liver, Colon, Monocytes

Publications for Hereditary Angioedema

Articles related to Hereditary Angioedema:

(show top 50) (show all 697)
id Title Authors Year
1
The Complex Interaction Between Polycystic Ovary Syndrome and Hereditary Angioedema: Case Reports and Review of the Literature. ( 28715060 )
2017
2
Mimicker of hereditary angioedema: Idiopathic systemic capillary leak syndrome successfully treated with intravenous immunoglobulin. ( 28377172 )
2017
3
The relationship between anxiety and quality of life in children with hereditary angioedema. ( 28692169 )
2017
4
Short-term prophylactic use of C1-inhibitor concentrate in hereditary angioedema: Findings from an international patient registry. ( 27865714 )
2017
5
An ABC of the Warning Signs of Hereditary Angioedema. ( 28950264 )
2017
6
Prophylactic Therapy for Hereditary Angioedema. ( 28687109 )
2017
7
Hereditary angioedema with a mutation in the plasminogen gene. ( 28795768 )
2017
8
New Hereditary Angioedema Therapy. ( 28763531 )
2017
9
Cleaved kininogen as a biomarker for bradykinin release in hereditary angioedema. ( 28782632 )
2017
10
Hereditary Angioedema: An Overlooked Cause of Recurrent Abdominal Pain and Free Peritoneal Fluid. ( 28780207 )
2017
11
Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1). ( 28905884 )
2017
12
Pharmacoeconomics of Orphan Disease Treatment with a Focus on Hereditary Angioedema. ( 28687113 )
2017
13
Pediatric hereditary angioedema: an update. ( 28781749 )
2017
14
Treatment of hereditary angioedema due to C1 inhibitor deficiency in Argentina. ( 28825570 )
2017
15
A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation. ( 27826968 )
2017
16
Recombinant human C1 esterase inhibitor for acute hereditary angioedema attacks with upper airway involvement. ( 28903805 )
2017
17
Emerging Therapies in Hereditary Angioedema. ( 28687111 )
2017
18
Breakthrough attacks in patients with hereditary angioedema receiving long-term prophylaxis are responsive to icatibant: findings from the Icatibant Outcome Survey. ( 28690642 )
2017
19
Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII). ( 27905115 )
2017
20
Efficacy of recombinant human C1 esterase inhibitor for the treatment of severe hereditary angioedema attacks. ( 28874235 )
2017
21
Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema. ( 28194776 )
2017
22
Health-related quality of life in relation to disease activity in adults with hereditary angioedema in Sweden. ( 28855002 )
2017
23
Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency. ( 28069032 )
2017
24
Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment. ( 28687110 )
2017
25
Acquired Arnold-Chiary malformation in a 16-year-old patient with hereditary angioedema. ( 28881398 )
2017
26
Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism. ( 28888847 )
2017
27
Manifestations of hereditary angioedema. ( 28007084 )
2017
28
Novel usage of fresh frozen plasma in hereditary angioedema. ( 28051822 )
2016
29
Hereditary angioedema with F12 mutation: Clinical features and enzyme polymorphisms in 9 Southwestern Spanish families. ( 27788882 )
2016
30
Prophylaxis in hereditary angioedema (HAE) with C1 inhibitor deficiency. ( 26972189 )
2016
31
Hereditary angioedema presenting as compartment syndrome in a white girl. ( 27397069 )
2016
32
Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27326983 )
2016
33
Tolerability and Effectiveness of 17-I+-Alkylated Androgen Therapy for Hereditary Angioedema: A Re-examination. ( 27329469 )
2016
34
Real-life experience with long-term prophylactic C1 inhibitor concentrate treatment of patients with hereditary angioedema: Effectiveness and cost. ( 27017563 )
2016
35
Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27940765 )
2016
36
New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema. ( 26812872 )
2016
37
C1-esterase inhibitor for short-term prophylaxis in a patient with hereditary angioedema with normal C1 inhibitor function. ( 27871580 )
2016
38
Managing the female patient with hereditary angioedema. ( 26978558 )
2016
39
Assessment of inhibitory antibodies in patients with hereditary angioedema treated with plasma-derived C1 inhibitor. ( 27788880 )
2016
40
Hereditary angioedema type 2 presented as an orbital complication of acute rhinosinusitis. ( 26857308 )
2016
41
Tamoxifen may cause life-threatening angioedema attacks in patients with hereditary angioedema. ( 27878882 )
2016
42
Plasmin is a natural trigger for bradykinin production in patients with hereditary angioedema with factor XII mutations. ( 27130860 )
2016
43
Hereditary angioedema: A rare cause of pancreatitis. ( 27576199 )
2016
44
Cytokine and estrogen stimulation of endothelial cells augments activation of the prekallikrein-high molecular weight kininogen complex: Implications for hereditary angioedema. ( 27826093 )
2016
45
Hereditary Angioedema as a Metabolic Liver Disorder: Novel Therapeutic Options and Prospects for Cure. ( 27965672 )
2016
46
Rapid Improvement of Pancreatitis Secondary to Hereditary Angioedema with C1 Inhibitor Administration. ( 27056293 )
2016
47
Prophylaxis of hereditary angioedema attacks: AA randomized trial of oral plasma kallikrein inhibition with avoralstat. ( 27302552 )
2016
48
Triggers and Prodromal Symptoms of Angioedema Attacks in Patients With Hereditary Angioedema. ( 27996949 )
2016
49
Psychometric Field Study of Hereditary Angioedema Quality of Life Questionnaire for Adults: HAE-QoL. ( 26969268 )
2016
50
Subcutaneous Icatibant for the Treatment of Hereditary Angioedema Attacks: Comparison of Home Self-Administration with Administration at a Medical Facility. ( 27818136 )
2016

Variations for Hereditary Angioedema

ClinVar genetic disease variations for Hereditary Angioedema:

6
id 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 SERPING1, 1-BP INS, 1304A insertion Pathogenic
4 SERPING1 SERPING1, 1-BP DEL, 1298T deletion Pathogenic
5 SERPING1 SERPING1, IVS6, G-T, +1 single nucleotide variant Pathogenic
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

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 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 11.47 BDKRB2 C1S C4A C4B F12 KLKB1
8 11.3 F12 KLKB1 SERPING1
9 11.3 C1S C4A C4B MASP1 MASP2
10 11.16 F12 KLKB1

GO Terms for Hereditary Angioedema

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

id 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)
id 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 vasodilation GO:0042311 9.58 BDKRB2 KNG1
14 complement activation, lectin pathway GO:0001867 9.58 C1S MASP1 MASP2
15 zymogen activation GO:0031638 9.57 F12 KLKB1
16 positive regulation of apoptotic cell clearance GO:2000427 9.56 C4A C4B
17 complement activation GO:0006956 9.55 C1S C4A C4B MASP1 MASP2
18 positive regulation of fibrinolysis GO:0051919 9.54 F12 KLKB1
19 Factor XII activation GO:0002542 9.51 F12 KLKB1
20 regulation of blood coagulation GO:0030193 9.28 F12
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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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