Aliases & Classifications for C1 Inhibitor Deficiency

MalaCards integrated aliases for C1 Inhibitor Deficiency:

Name: C1 Inhibitor Deficiency 12 15
Angioedemas, Hereditary 71
Quincke Edema 12
Angioedema 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0060002
UMLS 71 C0002994 C0019243

Summaries for C1 Inhibitor Deficiency

Disease Ontology : 12 A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.

MalaCards based summary : C1 Inhibitor Deficiency, also known as angioedemas, hereditary, is related to acquired angioedema and hereditary angioedema, and has symptoms including edema and peau d'orange. An important gene associated with C1 Inhibitor Deficiency is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Ciprofloxacin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and heart.

Related Diseases for C1 Inhibitor Deficiency

Diseases related to C1 Inhibitor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 acquired angioedema 33.3 SERPING1 C1S
2 hereditary angioedema 31.0 SERPING1 KNG1 KLKB1 F12 C1S BDKRB2
3 capillary leak syndrome 30.4 SERPING1 C1S
4 melkersson-rosenthal syndrome 30.0 SERPING1 ACE
5 urticaria 29.8 SERPING1 F12 C1S
6 hypersensitivity vasculitis 29.7 SERPINA3 ACE
7 angioedema 28.5 SERPING1 KNG1 KLKB1 F12 C1S C1R
8 complement component 4, partial deficiency of 11.9
9 hereditary angioedema with c1inh deficiency 11.6
10 angioedema induced by ace inhibitors 11.5
11 acquired angioedema with c1inh deficiency 11.5
12 allergic urticaria 10.4 SERPING1 KNG1
13 complement deficiency 10.3 SERPING1 C1S
14 lupus erythematosus 10.3
15 angioedema, hereditary, type i 10.2
16 systemic lupus erythematosus 10.2
17 lymphoproliferative syndrome 10.2
18 periodontal ehlers-danlos syndrome 10.1 C1S C1R
19 immunodeficiency due to a classical component pathway complement deficiency 10.1 C1S C1R
20 ehlers-danlos syndrome, periodontal type, 2 10.1 C1S C1R
21 hydrops, lactic acidosis, and sideroblastic anemia 10.1 SERPING1 KNG1 C1S
22 ehlers-danlos syndrome, periodontal type, 1 10.1 C1S C1R
23 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
24 lymphoma 10.1
25 congenital intrinsic factor deficiency 10.1 C1S C1R
26 gingival recession 10.1 C1S C1R
27 complement component 3 deficiency 10.1 C1S C1R
28 complement component 5 deficiency 10.1 C1S C1R
29 cholinergic urticaria 10.1 SERPING1 SERPINA3 KNG1
30 myeloma, multiple 10.1
31 food allergy 10.1
32 histiocytosis 10.1
33 plasmacytoma 10.1
34 somatoform disorder 10.1
35 necrobiotic xanthogranuloma 10.1
36 physical urticaria 10.1 SERPING1 SERPINA3 KNG1
37 factor xii deficiency 10.1 KLKB1 F12
38 diffuse scleroderma 10.1 KNG1 ACE
39 acute mountain sickness 10.1 BDKRB2 ACE
40 coronary artery vasospasm 10.1 KNG1 ACE
41 autoimmune disease 10.0
42 lymphoma, hodgkin, classic 10.0
43 sjogren syndrome 10.0
44 lymphoma, non-hodgkin, familial 10.0
45 marginal zone b-cell lymphoma 10.0
46 splenic marginal zone lymphoma 10.0
47 diarrhea 10.0
48 facial paralysis 10.0
49 echinococcosis 10.0
50 b-cell lymphoma 10.0

Graphical network of the top 20 diseases related to C1 Inhibitor Deficiency:



Diseases related to C1 Inhibitor Deficiency

Symptoms & Phenotypes for C1 Inhibitor Deficiency

UMLS symptoms related to C1 Inhibitor Deficiency:


edema, peau d'orange

Drugs & Therapeutics for C1 Inhibitor Deficiency

Drugs for C1 Inhibitor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 243)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
2
Metronidazole Approved Phase 4 443-48-1 4173
3
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
4
Enalaprilat Approved Phase 4 76420-72-9 6917719
5
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
6
Methadone Approved Phase 4 76-99-3 4095
7
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
8
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
9
Ramipril Approved Phase 4 87333-19-5 5362129
10
Fexofenadine Approved, Investigational Phase 4 83799-24-0 3348
11
Ebastine Approved, Investigational Phase 4 90729-43-4 3191
12
Desloratadine Approved, Investigational Phase 4 100643-71-8 124087
13
Cetirizine Approved Phase 4 83881-51-0 2678
14
Budesonide Approved Phase 4 51333-22-3 63006 5281004
15
Ceftriaxone Approved Phase 4 73384-59-5 5361919 5479530
16
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
17
Ofloxacin Approved Phase 4 82419-36-1 4583
18
Vancomycin Approved Phase 4 1404-90-6 14969 441141
19
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
20
Icatibant Approved, Investigational Phase 4 138614-30-9, 130308-48-4 71364
21
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
22
Bradykinin Investigational Phase 4 58-82-2 439201
23 N-monoacetylcystine Phase 4
24 Antitussive Agents Phase 4
25 Narcotics Phase 4
26 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
27
protease inhibitors Phase 4
28 HIV Protease Inhibitors Phase 4
29 Respiratory System Agents Phase 4
30 Anti-Allergic Agents Phase 4
31 Anti-Asthmatic Agents Phase 4
32 Hormones Phase 4
33 Histamine H1 Antagonists, Non-Sedating Phase 4
34 Hormone Antagonists Phase 4
35 glucocorticoids Phase 4
36 Cholinergic Agents Phase 4
37 Cholinergic Antagonists Phase 4
38 Bronchodilator Agents Phase 4
39 Immunoglobulins, Intravenous Phase 4
40 Cytochrome P-450 Enzyme Inhibitors Phase 4
41 Rho(D) Immune Globulin Phase 4
42 gamma-Globulins Phase 4
43 Anti-Infective Agents Phase 4
44 Anti-Bacterial Agents Phase 4
45 Antibiotics, Antitubercular Phase 4
46 Cephalosporins Phase 4
47 Anesthetics Phase 4
48 Lactams Phase 4
49 beta-Lactams Phase 4
50 Analgesics, Opioid Phase 4

Interventional clinical trials:

(show top 50) (show all 198)
# Name Status NCT ID Phase Drugs
1 Effect of Intravenous Administration of C1-inhibitor on Inflammation and Coagulation After Bronchial Instillation of House Dust Mite Allergen and Lipopolysaccharide in Allergic Asthma Patients Unknown status NCT03051698 Phase 4 C1-inhibitor;Antibiotics
2 A Clinical Study on Anti-Hypertensive Agent (ACEi) and Heart Function Improvement Unknown status NCT01069042 Phase 4 Enalapril
3 The Safety and Immunogenicity Study of Rotavirus Vaccine Simultaneously Vaccinated With MR or MMR Vaccine Unknown status NCT02153866 Phase 4
4 Evaluation Whether Higher Retention Rate is in Those of Combined Methadone With N-Acetyl-Cysteine Compared to Those With Methadone Alone During a Six-month Study Unknown status NCT01047956 Phase 4 Methadone; NAC;Methadone
5 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
6 Hereditary Angioedema : Interest From the Use of a Call Center During the Attacks. Completed NCT01679912 Phase 4
7 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
8 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
9 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 Completed NCT02966314 Phase 4 Omalizumab;Placebos
10 A Dose Escalation, Randomized, Double-blind Withdrawal Study of the Efficacy, Dose-response, and Safety of Ramipril for the Treatment of Hypertension in Children and Adolescents Completed NCT00044265 Phase 4 ramipril
11 Evaluation of the Inhibitory Effect of 5 Anti-Histamines in Urticaria Completed NCT01940393 Phase 4 Cetirizine;Desloratadine;Fexofenadine;Ebastine;Bilastine
12 Nasal Budesonide in Children With Rhinitis and/or Mild Obstructive Sleep Apnea Syndrome Completed NCT00560586 Phase 4 Budesonide;placebo
13 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
14 Randomized Trial of Short Antibiotic Course to Decrease Post ERCP Cholangitis Recruiting NCT03087656 Phase 4 Ceftriaxone;Levofloxacin
15 First Tier Versus Second Tier Antibiotics for Surgical Site Infections Following Hysterectomy In the Patients With a Beta-Lactam Allergy: A Prospective, Randomized, Single-Blinded Clinical Trial Not yet recruiting NCT04401553 Phase 4 cephalosporin;Second tier antibiotic (Vancomycin)
16 The Effect of Local Infiltration of Liposomal Bupivacaine on Opioid Consumption at Time of Cesarean Delivery: A Randomized Controlled Trial Not yet recruiting NCT03907813 Phase 4 Exparel
17 Effect of Bradykinin Receptor Antagonism on ACE Inhibitor-associated Angioedema - a Mulitcenter Trial Terminated NCT01574248 Phase 4 icatibant
18 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
19 Intravenous Versus Oral Regimens of Dexamethasone for Prophylaxis of Paclitaxel-associated Hypersensitivity Reaction in Primary Ovarian, Fallopian Tube and Peritoneal Cancer Patients: a Double-blind Randomized Controlled Trial Unknown status NCT02349763 Phase 3 Intravenous Dexamethasone;Oral Dexamethasone
20 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
21 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
22 An Open-Label Study of Icatibant in Japanese Subjects With Acute Attacks of Hereditary Angioedema. Completed NCT03888755 Phase 3 Icatibant
23 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
24 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
25 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
26 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),
27 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
28 A Phase 3, Multicenter, Randomized, Single-Blind, Dose-Ranging, Crossover Study to Evaluate the Safety and Efficacy of Intravenous Administration of CINRYZE® (C1 Esterase Inhibitor [Human]) for the Prevention of Angioedema Attacks in Children 6 to 11 Years of Age With Hereditary Angioedema Completed NCT02052141 Phase 3
29 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
30 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
31 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
32 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
33 Open-label Extension Study of CE1145 (Human Pasteurized C1 Esterase Inhibitor Concentrate) in Subjects With Congenital C1-INH Deficiency and Acute HAE Attacks Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
34 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
35 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
36 Open-label Patient Continuation of DX-88 (Ecallantide) for Acute Hereditary Angioedema Attacks Completed NCT00456508 Phase 3 ecallantide
37 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)
38 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
39 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
40 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
41 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)
42 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
43 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
44 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
45 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
46 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)
47 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
48 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
49 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)
50 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)

Search NIH Clinical Center for C1 Inhibitor Deficiency

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


C1 esterase inhibitor (human)
carbinoxamine
Carbinoxamine maleate
Fluoxymesterone

Genetic Tests for C1 Inhibitor Deficiency

Anatomical Context for C1 Inhibitor Deficiency

MalaCards organs/tissues related to C1 Inhibitor Deficiency:

40
Brain, Endothelial, Heart, Monocytes, Liver, Testes, B Cells

Publications for C1 Inhibitor Deficiency

Articles related to C1 Inhibitor Deficiency:

(show top 50) (show all 474)
# Title Authors PMID Year
1
Hereditary angioedema in children and adolescents - A consensus update on therapeutic strategies for German-speaking countries. 61
32524650 2020
2
Patient-reported burden of hereditary angioedema: findings from a patient survey in the United States. 61
32169514 2020
3
Impaired control of the contact system in hereditary angioedema with normal C1-inhibitor. 61
31860755 2020
4
Pharmacokinetics, Pharmacodynamics, and Exposure-Response of Lanadelumab for Hereditary Angioedema. 61
32407574 2020
5
Biological therapy in hereditary angioedema: transformation of a rare disease. 61
31994957 2020
6
Life expectancy in Italian patients with hereditary angioedema due to C1-inhibitor deficiency. 61
31954853 2020
7
C1-inhibitor Deficiency Induces Myositis-like Symptoms Via the Deposition of the Membrane Attack Complex in the Muscle. 61
32461528 2020
8
Ultrasound findings in an abdominal crisis of a patient with hereditary angioedema. 61
32338026 2020
9
Nailfold Videocapillaroscopic Findings in Bradykinin-Mediated Angioedema. 61
32301440 2020
10
Contact activation-induced complex formation between complement factor H and coagulation factor XIIa. 61
31984663 2020
11
Changes of coagulation parameters during erythema marginatum in patients with hereditary angioedema. 61
32078942 2020
12
Life-threatening laryngeal attacks in hereditary angioedema patients. 61
32308206 2020
13
Clinical Characteristics and Safety of Plasma-Derived C1-Inhibitor Therapy in Children and Adolescents with Hereditary Angioedema-A Long-Term Survey. 61
32198128 2020
14
Hereditary angioedema: a prospective study of a Brazilian single-center cohort. 61
31631315 2020
15
sgp120 and the contact system in hereditary angioedema: A diagnostic tool in HAE with normal C1 inhibitor. 61
31955064 2020
16
Evaluation of the efficacy and safety of home treatment with the recombinant human C1-inhibitor in hereditary angioedema resulting from C1-inhibitor deficiency. 61
31982824 2020
17
Acquired C1-inhibitor deficiency due to splenic marginal zone lymhoma: Case Report. 61
32228367 2020
18
Bradykinin and oxidative stress in patients with hereditary angioedema due to C1 inhibitor deficiency. 61
31933486 2020
19
The central role of endothelium in hereditary angioedema due to C1 inhibitor deficiency. 61
32114411 2020
20
Oxidative stress in hereditary angioedema caused by C1 inhibitor deficiency: an interesting finding that deserves further studies. 61
32105244 2020
21
Pediatric angioedema: Essential features and preliminary results from the Hereditary Angioedema Global Registry in Italy. 61
32017221 2020
22
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency. 61
31959500 2020
23
Short-term prophylaxis in patients with angioedema due to C1-inhibitor deficiency undergoing dental procedures: An observational study. 61
32163480 2020
24
HAE-AS, a specific disease activity scale for hereditary angioedema with C1-inhibitor deficiency. 61
31932270 2020
25
Long-term efficacy and safety of subcutaneous C1-inhibitor in women with hereditary angioedema: subgroup analysis from an open-label extension of a phase 3 trial. 61
32042283 2020
26
Lanadelumab for the treatment of hereditary angioedema. 61
31657963 2019
27
Elevated thrombin generation and factor VIII activity during angioedema attack in patients with hereditary C1 inhibitor deficiency. 61
31814604 2019
28
Angioedema as a systemic disease. 61
31864442 2019
29
The Role of Complement in Hereditary Angioedema. 61
31676220 2019
30
A randomized trial of human C1 inhibitor prophylaxis in children with hereditary angioedema. 61
30968444 2019
31
Acquired C1-inhibitor deficiency presenting with nephrotic syndrome. 61
31300605 2019
32
[Analysis of the relationship between vitamin D3 level and disease severity in hereditary angioedema]. 61
31203645 2019
33
Fixed-Dose Subcutaneous C1-Inhibitor Liquid for Prophylactic Treatment of C1-INH-HAE: SAHARA Randomized Study. 61
30682573 2019
34
Genotype-phenotype correlations in Brazilian patients with hereditary angioedema due to C1 inhibitor deficiency. 61
30556912 2019
35
Delayed diagnosis of hereditary angioedema with C1-inhibitor deficiency in iranian children and adolescents. 61
30690789 2019
36
Long-term effects upon rituximab treatment of acquired angioedema due to C1-inhibitor deficiency. 61
30488963 2019
37
Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate. 61
30866985 2019
38
Serum fetuin-A, tumor necrosis factor alpha and C-reactive protein concentrations in patients with hereditary angioedema with C1-inhibitor deficiency. 61
30885236 2019
39
HEREDITARY ANGIOEDEMA DUE TO C1-INHIBITOR DEFICIENCY IN PEDIATRIC PATIENTS IN CROATIA - FIRST NATIONAL STUDY, DIAGNOSTIC AND PROPHYLACTIC CHALLENGES. 61
31363336 2019
40
Lanadelumab for the Prophylactic Treatment of Hereditary Angioedema with C1 Inhibitor Deficiency: A Review of Preclinical and Phase I Studies. 61
30539362 2019
41
Cost-Effectiveness of Prophylactic Medications for the Treatment of Hereditary Angioedema Due to C1 Inhibitor Deficiency: A Real-World U.S. Perspective. 61
30698094 2019
42
Hereditary angioedema: Linking complement regulation to the coagulation system. 61
30656274 2019
43
Lanadelumab Injection Treatment For The Prevention Of Hereditary Angioedema (HAE): Design, Development And Place In Therapy. 61
31695331 2019
44
Flow-mediated vasodilation assay indicates no endothelial dysfunction in hereditary angioedema patients with C1-inhibitor deficiency. 61
30312677 2019
45
Systematic Review of Safety and Efficacy of Rituximab in Treating Immune-Mediated Disorders. 61
31555262 2019
46
Management of patients with hereditary angioedema in Germany: comparison with other countries in the Icatibant Outcome Survey. 61
30176179 2019
47
Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity. 61
30278448 2019
48
Elderly versus younger patients with hereditary angioedema type I/II: patient characteristics and safety analysis from the Icatibant Outcome Survey. 61
31360439 2019
49
Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause. 61
31131012 2019
50
Long-term prophylaxis therapy in patients with hereditary angioedema with C1 inhibitor deficiency. 61
30056152 2018

Variations for C1 Inhibitor Deficiency

Expression for C1 Inhibitor Deficiency

Search GEO for disease gene expression data for C1 Inhibitor Deficiency.

Pathways for C1 Inhibitor Deficiency

Pathways related to C1 Inhibitor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 SERPING1 SERPINA3 KNG1 KLKB1 F12
2
Show member pathways
12.46 KNG1 KLKB1 KLK4 F12
3
Show member pathways
11.78 SERPING1 C1S C1R
4
Show member pathways
11.66 SERPING1 KNG1 KLKB1 F12
5 11.43 SERPING1 C1S C1R
6 11.39 SERPING1 KNG1 KLKB1 F12 C1S C1R
7 11.19 SERPING1 KLKB1 F12
8
Show member pathways
11.16 KNG1 BDKRB2 BDKRB1 ACE
9 11.11 KLKB1 KLK4 F12

GO Terms for C1 Inhibitor Deficiency

Cellular components related to C1 Inhibitor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.87 SERPING1 SERPINA3 KNG1 KLKB1 F12 C1R
2 extracellular space GO:0005615 9.76 SERPING1 SERPINA3 KNG1 KLKB1 F12 C1S
3 collagen-containing extracellular matrix GO:0062023 9.67 SERPING1 SERPINA3 KNG1 F12
4 extracellular region GO:0005576 9.61 SERPING1 SERPINA3 KNG1 KLKB1 KLK4 F12
5 platelet alpha granule lumen GO:0031093 9.43 SERPING1 SERPINA3 KNG1
6 blood microparticle GO:0072562 9.02 SERPING1 SERPINA3 KNG1 C1S C1R

Biological processes related to C1 Inhibitor Deficiency according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.89 SERPING1 F12 C1S C1R
2 inflammatory response GO:0006954 9.8 SERPINA3 KNG1 KLKB1 BDKRB2 BDKRB1
3 proteolysis GO:0006508 9.8 KLKB1 KLK4 F12 C1S C1R ACE
4 blood coagulation GO:0007596 9.76 SERPING1 KNG1 KLKB1 F12
5 complement activation, classical pathway GO:0006958 9.73 SERPING1 C1S C1R
6 positive regulation of cytosolic calcium ion concentration GO:0007204 9.72 KNG1 BDKRB2 BDKRB1
7 negative regulation of endopeptidase activity GO:0010951 9.71 SERPING1 SERPINA3 KNG1
8 platelet degranulation GO:0002576 9.69 SERPING1 SERPINA3 KNG1
9 negative regulation of peptidase activity GO:0010466 9.67 SERPING1 SERPINA3 KNG1
10 regulation of complement activation GO:0030449 9.65 SERPING1 C1S C1R
11 blood circulation GO:0008015 9.58 SERPING1 BDKRB2
12 arachidonic acid secretion GO:0050482 9.58 BDKRB2 ACE
13 regulation of vasoconstriction GO:0019229 9.57 BDKRB2 ACE
14 vasodilation GO:0042311 9.52 KNG1 BDKRB2
15 positive regulation of fibrinolysis GO:0051919 9.43 KLKB1 F12
16 fibrinolysis GO:0042730 9.43 SERPING1 KLKB1 F12
17 Factor XII activation GO:0002542 9.37 KLKB1 F12
18 zymogen activation GO:0031638 9.33 KLKB1 F12 C1R
19 hemostasis GO:0007599 9.26 SERPING1 KNG1 KLKB1 F12
20 blood coagulation, intrinsic pathway GO:0007597 8.92 SERPING1 KNG1 KLKB1 F12

Molecular functions related to C1 Inhibitor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.85 KLKB1 KLK4 F12 C1S C1R ACE
2 peptidase activity GO:0008233 9.63 KLKB1 KLK4 F12 C1S C1R ACE
3 peptidase inhibitor activity GO:0030414 9.5 SERPING1 SERPINA3 KNG1
4 serine-type endopeptidase activity GO:0004252 9.35 KLKB1 KLK4 F12 C1S C1R
5 bradykinin receptor activity GO:0004947 9.26 BDKRB2 BDKRB1
6 serine-type peptidase activity GO:0008236 9.02 KLKB1 KLK4 F12 C1S C1R

Sources for C1 Inhibitor Deficiency

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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