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MCID: C1N001
MIFTS: 43

C1 Inhibitor Deficiency

Categories: Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for C1 Inhibitor Deficiency

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MalaCards integrated aliases for C1 Inhibitor Deficiency:

Name: C1 Inhibitor Deficiency 12 15
Quincke Edema 12 6
Angioedemas, Hereditary 70
Angioedema 70

Classifications:

MalaCards categories:
Anatomical: Immune diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060002
UMLS 70 C0002994 C0019243
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Summaries for C1 Inhibitor Deficiency

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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 quincke edema, 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 F12 (Coagulation Factor XII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Omalizumab and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and endothelial, and related phenotype is shRNA abundance <= 50%.

Sources

Related Diseases for C1 Inhibitor Deficiency

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

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 acquired angioedema 32.6 SERPING1 C1S
2 hereditary angioedema 31.1 SLC34A1 SERPING1 KNG1 KLKB1 F12 C1S
3 angioedema, hereditary, type i 30.7 SLC34A1 SERPING1 F12
4 hydrops, lactic acidosis, and sideroblastic anemia 30.2 SERPING1 KNG1 C1S
5 melkersson-rosenthal syndrome 30.2 SERPING1 ACE
6 capillary leak syndrome 30.1 SERPING1 C1S
7 hypersensitivity vasculitis 29.8 SERPINA3 ACE
8 angioedema 29.6 SLC34A1 SERPING1 KNG1 KLKB1 F12 C1S
9 urticaria 29.6 SLC34A1 SERPING1 F12 C1S ACE
10 complement component 4, partial deficiency of 11.5
11 hereditary angioedema with c1inh deficiency 11.4
12 angioedema induced by ace inhibitors 11.3
13 acquired angioedema with c1inh deficiency 11.3
14 lupus erythematosus 10.4
15 systemic lupus erythematosus 10.4
16 allergic urticaria 10.3 SERPING1 KNG1
17 lymphoma, hodgkin, classic 10.3
18 lymphoma, non-hodgkin, familial 10.3
19 marginal zone b-cell lymphoma 10.3
20 splenic marginal zone lymphoma 10.3
21 louse-borne relapsing fever 10.3 SERPING1 C1S
22 lymphoproliferative syndrome 10.3
23 b-cell lymphoma 10.3
24 monoclonal gammopathy of uncertain significance 10.3
25 lymphoma 10.2
26 cholinergic urticaria 10.2 SERPING1 SERPINA3
27 hypophosphatemic nephrolithiasis/osteoporosis 10.2 SLC34A1 F12
28 akinetopsia 10.2 KNG1 KLK4
29 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.2 SLC34A1 F12
30 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
31 angioedema, hereditary, type iii 10.2 SLC34A1 F12
32 intracranial vasospasm 10.2 KNG1 ACE
33 acute apical periodontitis 10.2 KNG1 ACE
34 uveoparotid fever 10.1 SERPING1 ACE
35 chronic urticaria 10.1
36 diffuse scleroderma 10.1 KNG1 ACE
37 physical urticaria 10.1 SERPING1 SERPINA3 KNG1
38 acute mountain sickness 10.1 BDKRB2 ACE
39 coronary artery vasospasm 10.1 KNG1 ACE
40 autoimmune disease 10.1
41 leukemia, chronic lymphocytic 10.1
42 sjogren syndrome 10.1
43 covid-19 10.1
44 diarrhea 10.1
45 facial paralysis 10.1
46 echinococcosis 10.1
47 cryoglobulinemia 10.1
48 lymphoid hemopathy 10.1
49 myocardial stunning 10.1 KNG1 ACE
50 chronic pyelonephritis 10.0 SERPINA3 ACE

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



Diseases related to C1 Inhibitor Deficiency
Sources

Symptoms & Phenotypes for C1 Inhibitor Deficiency

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UMLS symptoms related to C1 Inhibitor Deficiency:


edema; peau d'orange

GenomeRNAi Phenotypes related to C1 Inhibitor Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.23 BDKRB1 CD93 F12 KLK4 KLKB1 PRCP
Sources

Drugs & Therapeutics for C1 Inhibitor Deficiency

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

(show top 50) (show all 156)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omalizumab Approved, Investigational Phase 4 242138-07-4
2
Lactitol Approved, Investigational Phase 4 585-86-4 157355
3
Icatibant Approved, Investigational Phase 4 130308-48-4, 138614-30-9 71364
4
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
5
Metronidazole Approved Phase 4 443-48-1 4173
6
Vancomycin Approved Phase 4 1404-90-6 441141 14969
7
Bradykinin Investigational Phase 4 58-82-2 439201
8 Immunoglobulins, Intravenous Phase 4
9 Rho(D) Immune Globulin Phase 4
10 gamma-Globulins Phase 4
11 Respiratory System Agents Phase 4
12 Anti-Asthmatic Agents Phase 4
13 Anti-Allergic Agents Phase 4
14 Kininogens Phase 4
15 Immunosuppressive Agents Phase 4
16 Antirheumatic Agents Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Analgesics Phase 4
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4
20 Analgesics, Non-Narcotic Phase 4
21 Bradykinin Receptor Antagonists Phase 4
22 Anti-Infective Agents Phase 4
23 Anti-Bacterial Agents Phase 4
24 Antiparasitic Agents Phase 4
25 Antibiotics, Antitubercular Phase 4
26 Antiprotozoal Agents Phase 4
27 Cytochrome P-450 Enzyme Inhibitors Phase 4
28 Angiotensin-Converting Enzyme Inhibitors Phase 4
29
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
30
Tranexamic Acid Approved Phase 3 1197-18-8 5526
31
tannic acid Approved Phase 3 1401-55-4
32
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
33
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
34
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
35
Levocetirizine Approved Phase 3 130018-77-8 1549000
36
Cortisone Experimental Phase 3 53-06-5 222786
37 Pharmaceutical Solutions Phase 2, Phase 3
38 Antifibrinolytic Agents Phase 3
39 Coagulants Phase 3
40 Hemostatics Phase 3
41 Passionflower Phase 3
42 Hormones Phase 3
43 Antibodies, Monoclonal Phase 3
44 Immunoglobulin G Phase 3
45 Neurotransmitter Agents Phase 3
46
Histamine Phosphate Phase 3 51-74-1 65513
47 Histamine Antagonists Phase 3
48 Histamine H1 Antagonists Phase 3
49 Hormone Antagonists Phase 3
50 glucocorticoids Phase 3

Interventional clinical trials:

(show top 50) (show all 141)
# Name Status NCT ID Phase Drugs
1 Prospective Open-label Uncontrolled Multi-center Post-marketing Study to Assess Inhibitory Antibody Formation in Subjects With Congenital C1-INH Deficiency and Acute Hereditary Angioedema (HAE) Attacks Treated With Berinert® , a C1-esterase Inhibitor Completed NCT01467947 Phase 4
2 Open Label, Multicenter Study to Evaluate Efficacy, Safety and Tolerability of a Self-Administered Subcutaneous Formulation of Icatibant for the Treatment of Acute Attacks of Hereditary Angioedema (IHA) Completed NCT01457430 Phase 4 Icatibant
3 A Phase 4 Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE® (C1 Inhibitor [Human]) as Prophylactic Therapy in Subjects With Inadequately Controlled Hereditary Angioedema Attacks Completed NCT00914966 Phase 4
4 Hereditary Angioedema : Interest From the Use of a Call Center During the Attacks. Completed NCT01679912 Phase 4
5 A Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Completed NCT03576469 Phase 4
6 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
7 Effect of Intravenous Administration of C1-inhibitor on Inflammation and Coagulation After Bronchial Instillation of House Dust Mite Allergen and Lipopolysaccharide in Allergic Asthma Patients Terminated NCT03051698 Phase 4 C1-inhibitor;Antibiotics
8 Effect of Bradykinin Receptor Antagonism on ACE Inhibitor-associated Angioedema - a Mulitcenter Trial Terminated NCT01574248 Phase 4 icatibant
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 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)
20 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
21 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
22 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
23 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
24 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
25 Open-label Patient Continuation of DX-88 (Ecallantide) for Acute Hereditary Angioedema Attacks Completed NCT00456508 Phase 3 ecallantide
26 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
27 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
28 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),
29 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
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 An Open-Label Study of Icatibant in Japanese Subjects With Acute Attacks of Hereditary Angioedema. Completed NCT03888755 Phase 3 Icatibant
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 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 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)
35 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
36 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)
37 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
38 Phase III, Randomized, Double-Blind, Placebo-Controlled, Multicenter Clinical Study Evaluating the Safety & Efficacy of Icatibant as a Treatment for Angiotensin-Converting Enzyme Inhibitor (ACE-I)-Induced Angioedema in Adults Completed NCT01919801 Phase 3 Icatibant;Placebo
39 A Randomized, Double-blind, Placebo-controlled, 28-week Treatment With a 8 Week Follow-up to Investigate the Impact of Omalizumab on Quality of Life Measures and the Incidence and Severity of Angioedema Despite H1-antihistamine Therapy. Completed NCT01723072 Phase 3 Placebo
40 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)
41 Randomized, Double-blind, Two Arms, Multicenter, Phase III Study of Berinert for Treatment of ACE Induced Angioedema Completed NCT01843530 Phase 3 Berinert;Clemastin;Cortisone acetate;NaCl
42 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)
43 A Phase 3 Multi-center, Open-label Study to Evaluate the Efficacy and Safety of Lanadelumab (SHP643) in Japanese Subjects With Hereditary Angioedema Recruiting NCT04180163 Phase 3 Lanadelumab
44 A Phase 3, Multicenter, Randomized, Placebo-controlled, Double-blind Study to Evaluate the Efficacy and Safety of Lanadelumab for Prevention Against Acute Attacks of Non-histaminergic Angioedema With Normal C1-Inhibitor (C1-INH) Recruiting NCT04206605 Phase 3 Lanadelumab
45 An Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Lanadelumab for Prevention Against Acute Attacks of Non-histaminergic Angioedema With Normal C1-Inhibitor (C1-INH) Recruiting NCT04444895 Phase 3 Lanadelumab
46 A Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel-arm Study to Investigate the Efficacy and Safety of Subcutaneous Administration of CSL312 (Garadacimab) in the Prophylactic Treatment of Hereditary Angioedema Recruiting NCT04656418 Phase 3 Placebo
47 An Open-label Study to Evaluate the Long-term Safety and Efficacy of CSL312 (Garadacimab) in the Prophylactic Treatment of Hereditary Angioedema Recruiting NCT04739059 Phase 3
48 A Multicenter, Open-Label, Non-randomized Phase 3 Study to Assess the Safety, Efficacy and Pharmacokinetics of Subcutaneous Administration of Icatibant (TAK-667) in Japanese Children and Adolescents With Acute Attacks of Hereditary Angioedema Recruiting NCT04654351 Phase 3 TAK-667
49 Open-arm, Japan Expanded Access Program With Lanadelumab (TAK-743) for Japanese Patients With Hereditary Angioedema Recruiting NCT04687137 Phase 3 TAK-743 300 mg
50 COrticosteroids in acUte uRticAria in emerGency dEpartment Recruiting NCT03545464 Phase 3 Placebo Oral Tablet;Cortancyl Oral Tablet;Levocetirizine Oral Tablet

Search NIH Clinical Center for C1 Inhibitor Deficiency

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


C1 esterase inhibitor (human)
carbinoxamine
Carbinoxamine maleate
Fluoxymesterone
Sources

Genetic Tests for C1 Inhibitor Deficiency

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Sources

Anatomical Context for C1 Inhibitor Deficiency

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MalaCards organs/tissues related to C1 Inhibitor Deficiency:

40
Brain, Liver, Endothelial, Whole Blood, Small Intestine, Neutrophil, Spleen
Sources

Publications for C1 Inhibitor Deficiency

About this section

Articles related to C1 Inhibitor Deficiency:

(show top 50) (show all 510)
# Title Authors PMID Year
1
A follow-up survey of patients with acquired angioedema due to C1-inhibitor deficiency. 61
33215769 2021
2
How Angioedema Quality of Life Questionnaire Can Help Physicians in Treating C1-Inhibitor Deficiency Patients? 61
33660212 2021
3
Correction to: A case of hereditary angioedema due to C1-inhibitor deficiency with recurrent abdominal pain diagnosed 40 years after the occurrence of the initial symptom. 61
33755875 2021
4
The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency. 61
33791951 2021
5
Impact of anxiety, stress and depression related to COVID-19 pandemic on the course of hereditary angioedema with C1 inhibitor deficiency. 61
33650198 2021
6
Analysis of Heart-Rate Variability during Angioedema Attacks in Patients with Hereditary C1-Inhibitor Deficiency. 61
33809031 2021
7
Angioedema without wheals: a clinical update. 61
33593719 2021
8
COVID-19 as a trigger of acute attacks in people with hereditary angioedema. 61
33772888 2021
9
COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience. 61
33338534 2021
10
Decreasing Attacks and Improving Quality of Life through a Systematic Management Program for Patients with Hereditary Angioedema. 61
33657571 2021
11
Therapeutic management of hereditary angioedema: past, present, and future. 61
33724190 2021
12
Pathophysiology and underlying mechanisms in hereditary angioedema. 61
33233873 2021
13
The Importance of Complement Testing in Acquired Angioedema Related to Angiotensin-Converting Enzyme Inhibitors. 61
32916322 2021
14
Pathways of Neutrophil Granulocyte Activation in Hereditary Angioedema with C1 Inhibitor Deficiency. 61
33606193 2021
15
Efficacy of lanadelumab in acquired angioedema with C1-inhibitor deficiency. 61
33556593 2021
16
A case of hereditary angioedema due to C1-inhibitor deficiency with recurrent abdominal pain diagnosed 40 years after the occurrence of the initial symptom. 61
33544288 2021
17
Cut-off value of C1-inhibitor function for the diagnosis of hereditary angioedema due to C1-inhibitor deficiency. 61
33614375 2021
18
COVID-19 affecting hereditary angioedema patients with and without C1 inhibitor deficiency. 61
33271349 2021
19
Hereditary Angioedema with and Without C1-Inhibitor Deficiency in Postmenopausal Women. 61
33130967 2021
20
Acquired Angioedema with C1 Inhibitor Deficiency: Occurrence, Clinical Features, and Management: A Nationwide Retrospective Study in the Czech Republic Patients. 61
33472202 2021
21
In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency. 61
33469833 2021
22
US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema. 61
32898710 2021
23
Psychological processes in the experience of hereditary angioedema in adult patients: an observational study. 61
33422102 2021
24
[Acquired angioedema due to C1-inhibitor deficiency: CREAK recommendations for diagnosis and treatment]. 61
32753245 2020
25
Epigenetic alterations on C1-inhibitor expression may influence hereditary angioedema attack frequency and C4 levels: Comment on: Karagianni P, Goules AV, Tzioufas AG. Epigenetic alterations in Sjogren's syndrome patient saliva. 61
32940350 2020
26
Pharmacokinetics, Pharmacodynamics, and Exposure-Response of Lanadelumab for Hereditary Angioedema. 61
32407574 2020
27
Hereditary angioedema in children and adolescents - A consensus update on therapeutic strategies for German-speaking countries. 61
32524650 2020
28
Oral once-daily berotralstat for the prevention of hereditary angioedema attacks: A randomized, double-blind, placebo-controlled phase 3 trial. 61
33098856 2020
29
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor. 61
33114181 2020
30
Hereditary C1 inhibitor deficiency associated with systemic lupus erythematosus. 61
32659156 2020
31
Hereditary Angioedema Due to C1-Inhibitor Deficiency in Romania: First National Study, Diagnostic and Treatment Challenges. 61
32996899 2020
32
C1-inhibitor Deficiency Induces Myositis-like Symptoms Via the Deposition of the Membrane Attack Complex in the Muscle. 61
32461528 2020
33
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency. 61
31959500 2020
34
Successful Use of Recombinant Human C1-INH in a Patient with Acquired Angioedema due to C1 Inhibitor Deficiency and an Unusually High Titer of Anti-C1-Inhibitor Autoantibodies. 61
32732186 2020
35
Clinical Characteristics and Safety of Plasma-Derived C1-Inhibitor Therapy in Children and Adolescents with Hereditary Angioedema-A Long-Term Survey. 61
32198128 2020
36
Patient-reported burden of hereditary angioedema: findings from a patient survey in the United States. 61
32169514 2020
37
Impaired control of the contact system in hereditary angioedema with normal C1-inhibitor. 61
31860755 2020
38
Ultrasound findings in an abdominal crisis of a patient with hereditary angioedema. 61
32338026 2020
39
Biological therapy in hereditary angioedema: transformation of a rare disease. 61
31994957 2020
40
Life expectancy in Italian patients with hereditary angioedema due to C1-inhibitor deficiency. 61
31954853 2020
41
Changes of coagulation parameters during erythema marginatum in patients with hereditary angioedema. 61
32078942 2020
42
Nailfold Videocapillaroscopic Findings in Bradykinin-Mediated Angioedema. 61
32301440 2020
43
Contact activation-induced complex formation between complement factor H and coagulation factor XIIa. 61
31984663 2020
44
sgp120 and the contact system in hereditary angioedema: A diagnostic tool in HAE with normal C1 inhibitor. 61
31955064 2020
45
Hereditary angioedema: a prospective study of a Brazilian single-center cohort. 61
31631315 2020
46
Life-threatening laryngeal attacks in hereditary angioedema patients. 61
32308206 2020
47
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
48
Acquired C1-inhibitor deficiency due to splenic marginal zone lymhoma: Case Report. 61
32228367 2020
49
Oxidative stress in hereditary angioedema caused by C1 inhibitor deficiency: an interesting finding that deserves further studies. 61
32105244 2020
50
The central role of endothelium in hereditary angioedema due to C1 inhibitor deficiency. 61
32114411 2020
Sources

Variations for C1 Inhibitor Deficiency

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ClinVar genetic disease variations for C1 Inhibitor Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F12 , SLC34A1 NM_000505.3(F12):c.983C>G (p.Thr328Arg) SNV Pathogenic 1170 rs118204456 GRCh37: 5:176831232-176831232
GRCh38: 5:177404231-177404231
2 SERPING1 NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr) SNV Likely pathogenic 427759 rs978962357 GRCh37: 11:57382026-57382026
GRCh38: 11:57614553-57614553
3 SERPING1 NM_000062.3(SERPING1):c.51+1del Deletion Likely pathogenic 689535 rs1590821401 GRCh37: 11:57365792-57365792
GRCh38: 11:57598319-57598319
4 SERPING1 NM_000062.3(SERPING1):c.369C>G (p.Cys123Trp) SNV Uncertain significance 689536 rs1465637711 GRCh37: 11:57367669-57367669
GRCh38: 11:57600196-57600196
5 SERPING1 NM_000062.3(SERPING1):c.1249+5G>C SNV Uncertain significance 689537 rs1590829846 GRCh37: 11:57379414-57379414
GRCh38: 11:57611941-57611941
6 SYTL2 NM_032943.4(SYTL2):c.890del (p.Ser297fs) Deletion Uncertain significance 375385 rs1057519445 GRCh37: 11:85445479-85445479
GRCh38: 11:85734436-85734436
Sources

Expression for C1 Inhibitor Deficiency

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

Pathways for C1 Inhibitor Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.01 SERPING1 SERPINA3 PRCP KNG1 KLKB1 F12
2
Collagen chain trimerization 65
Show member pathways
 12.53 PRCP KNG1 KLKB1 KLK4 F12
3
Immune response Lectin induced complement pathway 23
Show member pathways
 11.76 SERPING1 CD93 C1S C1R
4
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.76 SERPING1 PRCP KNG1 KLKB1 F12
5
Pertussis 36
11.49 SERPING1 C1S C1R
6
Complement and coagulation cascades 36 1
11.39 SERPING1 KNG1 KLKB1 F12 C1S C1R
7
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 60
Show member pathways
 11.26 PRCP KNG1 BDKRB2 BDKRB1 ACE
8
Cell adhesion_Plasmin signaling 23
11.23 SERPING1 KLKB1 F12
9
MSP-RON Signaling 63
11.18 KLKB1 KLK4 F12
Sources

GO Terms for C1 Inhibitor Deficiency

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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 9.92 SERPING1 SERPINA3 PRCP KNG1 KLKB1 F12
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 9.65 SPINT2 SERPING1 SERPINA3 KNG1 KLKB1 KLK4
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 19)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.89 SERPINA3 KNG1 KLKB1 BDKRB2 BDKRB1
2 blood coagulation GO:0007596 9.81 SERPING1 KNG1 KLKB1 F12
3 complement activation, classical pathway GO:0006958 9.76 SERPING1 C1S C1R
4 negative regulation of endopeptidase activity GO:0010951 9.76 SPINT2 SERPING1 SERPINA3 KNG1
5 positive regulation of cytosolic calcium ion concentration GO:0007204 9.75 KNG1 BDKRB2 BDKRB1
6 negative regulation of peptidase activity GO:0010466 9.73 SPINT2 SERPING1 SERPINA3 KNG1
7 platelet degranulation GO:0002576 9.71 SERPING1 SERPINA3 KNG1
8 regulation of complement activation GO:0030449 9.7 SERPING1 C1S C1R
9 proteolysis GO:0006508 9.7 PRCP KLKB1 KLK4 F12 C1S C1R
10 vasodilation GO:0042311 9.57 KNG1 BDKRB2
11 arachidonic acid secretion GO:0050482 9.56 BDKRB2 ACE
12 regulation of vasoconstriction GO:0019229 9.55 BDKRB2 ACE
13 zymogen activation GO:0031638 9.5 KLKB1 F12 C1R
14 positive regulation of fibrinolysis GO:0051919 9.48 KLKB1 F12
15 fibrinolysis GO:0042730 9.43 SERPING1 KLKB1 F12
16 Factor XII activation GO:0002542 9.4 KLKB1 F12
17 plasma kallikrein-kinin cascade GO:0002353 9.37 PRCP F12
18 hemostasis GO:0007599 9.26 SERPING1 KNG1 KLKB1 F12
19 blood coagulation, intrinsic pathway GO:0007597 9.02 SERPING1 PRCP 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 9.95 PRCP KLKB1 KLK4 F12 C1S C1R
2 peptidase inhibitor activity GO:0030414 9.62 SPINT2 SERPING1 SERPINA3 KNG1
3 serine-type endopeptidase activity GO:0004252 9.55 KLKB1 KLK4 F12 C1S C1R
4 serine-type endopeptidase inhibitor activity GO:0004867 9.54 SPINT2 SERPING1 SERPINA3
5 peptidase activity GO:0008233 9.5 PRCP KLKB1 KLK4 F12 C1S C1R
6 bradykinin receptor activity GO:0004947 9.26 BDKRB2 BDKRB1
7 serine-type peptidase activity GO:0008236 9.1 PRCP KLKB1 KLK4 F12 C1S C1R
Sources

Sources for C1 Inhibitor Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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