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MCID: C1N001
MIFTS: 40

C1 Inhibitor Deficiency

Categories: Immune diseases
Genes 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
Angioedemas, Hereditary 73
Quincke Edema 12
Angioedema 73

Classifications:

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


External Ids:

Disease Ontology 12 DOID:0060002
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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 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 Collagen chain trimerization and Immune response Lectin induced complement pathway. The drugs Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include testes, b cells and colon.

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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 all 30)
# Related Disease Score Top Affiliating Genes
1 acquired angioedema 32.5 C1S SERPING1
2 hereditary angioedema 31.8 BDKRB2 C1S KLKB1 KNG1 SERPING1
3 angioedema 30.4 BDKRB2 C1S KLKB1 KNG1 SERPING1
4 complement component 4, partial deficiency of 11.8
5 angioedema induced by ace inhibitors 11.3
6 lupus erythematosus 10.3
7 systemic lupus erythematosus 10.2
8 lymphoma 10.1
9 allergic urticaria 10.0 KNG1 SERPING1
10 renal hypertension 9.9 KLKB1 KNG1
11 urticaria 9.9 C1S SERPING1
12 brain edema 9.9 BDKRB2 KNG1
13 melkersson-rosenthal syndrome 9.9
14 rheumatoid arthritis 9.9
15 sjogren syndrome 9.9
16 autoimmune lymphoproliferative syndrome, type v 9.9
17 arthritis 9.9
18 b-cell lymphomas 9.9
19 crohn's disease 9.9
20 marginal zone b-cell lymphoma 9.9
21 dermatomyositis 9.9
22 capillary leak syndrome 9.9
23 antiphospholipid syndrome 9.9
24 lymphosarcoma 9.9
25 neuropathy 9.9
26 systemic capillary leak syndrome 9.9
27 hydrops, lactic acidosis, and sideroblastic anemia 9.8 C1S KNG1 SERPING1
28 arteries, anomalies of 9.8 KLK4 KNG1
29 malignant essential hypertension 9.8 KLK4 KLKB1 KNG1
30 hypertension, essential 9.6 BDKRB2 KLK4 KLKB1 KNG1

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



Diseases related to C1 Inhibitor Deficiency
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Symptoms & Phenotypes for C1 Inhibitor Deficiency

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UMLS symptoms related to C1 Inhibitor Deficiency:


edema, peau d'orange
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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 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved, Investigational Phase 4,Phase 3,Phase 1 138614-30-9, 130308-48-4 71364
2
Omalizumab Approved, Investigational Phase 4 242138-07-4
3
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
4
Bradykinin Investigational Phase 4,Phase 3,Phase 1 58-82-2 439201
5
Lactitol Investigational Phase 4 585-86-4 3871
6 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
7 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Vasodilator Agents Phase 4,Phase 3,Phase 1
9 Analgesics Phase 4,Phase 3,Phase 1
10 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
11 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
12 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
14 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1
15 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
16 Antirheumatic Agents Phase 4,Phase 3,Phase 1
17 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
19 Kininogens Phase 4,Phase 3,Phase 1
20 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
21 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
22 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
23 Immunoglobulins Phase 4,Phase 2,Phase 1
24 Antibodies Phase 4,Phase 2,Phase 1
25 Anti-Allergic Agents Phase 4
26 Anti-Asthmatic Agents Phase 4
27 Respiratory System Agents Phase 4
28 Immunoglobulins, Intravenous Phase 4
29 gamma-Globulins Phase 4
30 Rho(D) Immune Globulin Phase 4
31 tannic acid Approved Phase 3
32
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
33
Tranexamic Acid Approved Phase 3 1197-18-8 5526
34 Pharmaceutical Solutions Phase 3,Phase 2
35 Antifibrinolytic Agents Phase 3
36 Coagulants Phase 3,Phase 2
37 Fibrinolytic Agents Phase 3,Not Applicable
38 Hemostatics Phase 3
39 Plasma Kallikrein Phase 3,Phase 2,Phase 1
40 Kallikreins Phase 3,Phase 2,Phase 1
41 Passionflower Phase 3
42
Danazol Approved Phase 2 17230-88-5 28417
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
44 Hormones Phase 2,Phase 1
45 Hormone Antagonists Phase 2,Phase 1
46 Estrogen Antagonists Phase 2
47 Estrogens Phase 2
48 Estrogen Receptor Antagonists Phase 2
49 Estrogen Receptor Modulators Phase 2
50 Antibodies, Monoclonal Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 84)
# 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 A Study to Evaluate the Benefit of RUCONEST® in Subjects With CVID Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
7 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
8 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
9 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00438815 Phase 3
10 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
11 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
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 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
14 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
15 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
16 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
17 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
18 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
19 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
20 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
21 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
22 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
23 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
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 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
26 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
27 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
28 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
29 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
30 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
31 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
32 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
33 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
34 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
35 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
36 A Long Term Safety Study of BCX7353 in Hereditary Angioedema Recruiting NCT03472040 Phase 2, Phase 3 BCX7353
37 Long-term Safety and Efficacy Study of DX-2930 (SHP643) to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Active, not recruiting NCT02741596 Phase 3 DX-2930;DX-2930
38 Efficacy and Safety Study of BCX7353 as an Oral Treatment for the Prevention of Attacks in HAE Active, not recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
39 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
40 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
41 Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary Angioedema Unknown status NCT01832896 Phase 2 Ecallantide subcutaneous dosing
42 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
43 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
44 Safety of Ruconest in 2-13 Year Old Hereditary Angioedema (HAE) Patients Completed NCT01359969 Phase 2 rhC1INH
45 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
46 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
47 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
48 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
49 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
50 EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)

Search NIH Clinical Center for C1 Inhibitor Deficiency

Inferred drug relations via UMLS 73 / NDF-RT 51 :
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Genetic Tests for C1 Inhibitor Deficiency

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Anatomical Context for C1 Inhibitor Deficiency

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MalaCards organs/tissues related to C1 Inhibitor Deficiency:

41
Testes, B Cells, Colon, Spleen, Whole Blood, Small Intestine, Brain
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Publications for C1 Inhibitor Deficiency

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Articles related to C1 Inhibitor Deficiency:

(show top 50) (show all 189)
# Title Authors Year
1
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype. ( 29513108 )
2018
2
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. ( 29753808 )
2018
3
Icatibant for the treatment of hereditary angioedema with C1-inhibitor deficiency in adolescents and in children aged over 2 years. ( 29757016 )
2018
4
Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight. ( 29343682 )
2018
5
Flow-mediated vasodilation assay indicates no endothelial dysfunction in hereditary angioedema patients with C1-inhibitor deficiency. ( 30312677 )
2018
6
Comparing Pathways of Bradykinin Formation in Whole Blood From Healthy Volunteers and Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 30333824 )
2018
7
Nine year follow-up of a rare case of angioedema due to acquired C1-inhibitor deficiency with late onset and good response to attenuated androgen. ( 30386386 )
2018
8
The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories. ( 30479631 )
2018
9
Lanadelumab for the Prophylactic Treatment of Hereditary Angioedema with C1 Inhibitor Deficiency: A Review of Preclinical and Phase I Studies. ( 30539362 )
2018
10
Genotype-phenotype correlations in Brazilian patients with Hereditary Angioedema due to C1- inhibitor deficiency. ( 30556912 )
2018
11
Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study. ( 30005674 )
2018
12
Long-term prophylaxis therapy in patients with hereditary angioedema with C1 inhibitor deficiency. ( 30056152 )
2018
13
Secreted Phospholipases A2 in Hereditary Angioedema With C1-Inhibitor Deficiency. ( 30083168 )
2018
14
Splenic marginal zone lymphomas in acquired C1-inhibitor deficiency: clinical and molecular characterization. ( 30073422 )
2018
15
Long term effects upon rituximab treatment of acquired angio-edema due to c1-inhibitor deficiency. ( 30488963 )
2018
16
Clinical and biological response to rituximab treatment in 3 patients with acquired C1-inhibitor deficiency. ( 28866304 )
2017
17
Acquired C1 Inhibitor Deficiency. ( 28687105 )
2017
18
Diagnosis, Course, and Management of Angioedema in Patients With Acquired C1-Inhibitor Deficiency. ( 28284781 )
2017
19
Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency. ( 28069032 )
2017
20
Pharmacological Management of Hereditary Angioedema with C1-Inhibitor Deficiency in Pediatric Patients. ( 29214395 )
2017
21
Genetic Determinants of C1 Inhibitor Deficiency Angioedema Age of Onset. ( 29130992 )
2017
22
Treatment of hereditary angioedema due to C1 inhibitor deficiency in Argentina. ( 28825570 )
2017
23
Hereditary C1 inhibitor deficiency is associated with high spontaneous amidase activity. ( 28222330 )
2017
24
Electroconvulsive Therapy in Patients with C1 Inhibitor Deficiency: A Major or Minor Procedure? ( 27326990 )
2016
25
Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27326983 )
2016
26
Bacteriuria increases the risk of edematous attacks in hereditary angioedema with C1-inhibitor deficiency. ( 27548887 )
2016
27
Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1. ( 27187751 )
2016
28
International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. ( 27503784 )
2016
29
Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre. ( 26796857 )
2016
30
Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27940765 )
2016
31
Thyroid hormones and complement parameters in hereditary angioedema with C1-inhibitor deficiency. ( 27364943 )
2016
32
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study. ( 27101900 )
2016
33
Prophylaxis in hereditary angioedema (HAE) with C1 inhibitor deficiency. ( 26972189 )
2016
34
Cases of acquired C1 inhibitor deficiency treated with rituximab. ( 27130715 )
2016
35
High attack frequency in patients with angioedema due to C1-inhibitor deficiency is a major determinant in switching to home therapy: a real-life observational study. ( 27686124 )
2016
36
Delayed diagnosis of C1-inhibitor deficiency associated with significant morbidity and mortality. ( 27727922 )
2016
37
A nationwide study of acquired C1-inhibitor deficiency in France: Characteristics and treatment responses in 92 patients. ( 27537564 )
2016
38
Diagnostic and therapeutic management of hereditary angioedema due to C1-inhibitor deficiency: the Italian experience. ( 26106828 )
2015
39
Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency. ( 26452350 )
2015
40
Benefits of hydroxychloroquine in the treatment of a patient with angioedema due to acquired C1 inhibitor deficiency. ( 25457864 )
2015
41
The safety of treatments for angioedema with hereditary C1 inhibitor deficiency. ( 26429506 )
2015
42
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26270546 )
2015
43
Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency. ( 26654922 )
2015
44
Recombinant human C1 esterase inhibitor for the treatment of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE). ( 25669442 )
2015
45
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26154504 )
2015
46
Efficacy of on-demand treatment in reducing morbidity in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 26304015 )
2015
47
The Janus faces of acquired angioedema: C1-inhibitor deficiency, lymphoproliferation and autoimmunity. ( 26068904 )
2015
48
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. ( 25758562 )
2015
49
Current treatment options for hereditary angioedema due to C1 inhibitor deficiency. ( 26512744 )
2015
50
Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency. ( 26250409 )
2015
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Variations for C1 Inhibitor Deficiency

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Expression for C1 Inhibitor Deficiency

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Search GEO for disease gene expression data for C1 Inhibitor Deficiency.
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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
Collagen chain trimerization 66
Show member pathways
 12.3 KLK4 KLKB1 KNG1
2
Immune response Lectin induced complement pathway 22
Show member pathways
 11.58 C1S SERPING1
3
Complement Pathway 64
Show member pathways
 11.46 C1S SERPING1
4
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.33 KLKB1 KNG1 SERPING1
5
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 61
Show member pathways
 11.27 BDKRB2 KNG1
6
Pertussis 37
11.2 C1S SERPING1
7
Complement and coagulation cascades 1 37
11.16 BDKRB2 C1S KLKB1 KNG1 SERPING1
8
Cell adhesion_Plasmin signaling 22
10.95 KLKB1 SERPING1
9
MSP-RON Signaling 64
10.84 KLK4 KLKB1
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 platelet alpha granule lumen GO:0031093 9.16 KNG1 SERPING1
2 blood microparticle GO:0072562 9.13 C1S KNG1 SERPING1
3 extracellular region GO:0005576 9.1 C1S KLK4 KLKB1 KNG1 SERPING1 SPINT2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.63 BDKRB2 KLKB1 KNG1
2 blood coagulation GO:0007596 9.54 KLKB1 KNG1 SERPING1
3 platelet degranulation GO:0002576 9.51 KNG1 SERPING1
4 regulation of complement activation GO:0030449 9.49 C1S SERPING1
5 extracellular matrix disassembly GO:0022617 9.48 KLK4 KLKB1
6 blood circulation GO:0008015 9.43 BDKRB2 SERPING1
7 negative regulation of endopeptidase activity GO:0010951 9.43 KNG1 SERPING1 SPINT2
8 fibrinolysis GO:0042730 9.4 KLKB1 SERPING1
9 negative regulation of peptidase activity GO:0010466 9.33 KNG1 SERPING1 SPINT2
10 vasodilation GO:0042311 9.32 BDKRB2 KNG1
11 hemostasis GO:0007599 9.13 KLKB1 KNG1 SERPING1
12 blood coagulation, intrinsic pathway GO:0007597 8.8 KLKB1 KNG1 SERPING1

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.5 C1S KLK4 KLKB1
2 serine-type endopeptidase activity GO:0004252 9.33 C1S KLK4 KLKB1
3 serine-type endopeptidase inhibitor activity GO:0004867 9.26 SERPING1 SPINT2
4 serine-type peptidase activity GO:0008236 9.13 C1S KLK4 KLKB1
5 peptidase inhibitor activity GO:0030414 8.8 KNG1 SERPING1 SPINT2
Sources

Sources for C1 Inhibitor Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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