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MCID: C1N001
MIFTS: 42

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 74
Quincke Edema 12
Angioedema 74

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 Formation of Fibrin Clot (Clotting Cascade) and Immune response Lectin induced complement pathway. The drugs Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include b cells, myeloid and testes.

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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 33)
# Related Disease Score Top Affiliating Genes
1 acquired angioedema 32.6 C1S SERPING1
2 hereditary angioedema 30.7 BDKRB2 C1S KLKB1 KNG1 MASP2 SERPING1
3 angioedema 29.9 BDKRB2 C1S KLKB1 KNG1 SERPING1
4 hereditary angioedema with c1inh deficiency 11.8
5 complement component 4, partial deficiency of 11.8
6 acquired angioedema with c1inh deficiency 11.4
7 lupus erythematosus 10.3
8 systemic lupus erythematosus 10.2
9 lymphoma 10.2
10 angioedema, hereditary, type i 10.1
11 allergic urticaria 10.1 KNG1 SERPING1
12 marginal zone b-cell lymphoma 10.0
13 splenic marginal zone lymphoma 10.0
14 malignant essential hypertension 10.0 KLKB1 KNG1
15 urticaria 9.9 C1S SERPING1
16 melkersson-rosenthal syndrome 9.9
17 rheumatoid arthritis 9.9
18 sjogren syndrome 9.9
19 autoimmune lymphoproliferative syndrome, type v 9.9
20 arthritis 9.9
21 crohn's disease 9.9
22 lymphoproliferative syndrome 9.9
23 dermatomyositis 9.9
24 capillary leak syndrome 9.9
25 monoclonal paraproteinemia 9.9
26 antiphospholipid syndrome 9.9
27 neuropathy 9.9
28 lymphosarcoma 9.9
29 systemic capillary leak syndrome 9.9
30 renal hypertension 9.9 KLKB1 KNG1
31 brain edema 9.8 BDKRB2 KNG1
32 hydrops, lactic acidosis, and sideroblastic anemia 9.8 C1S KNG1 SERPING1
33 hypertension, essential 9.6 BDKRB2 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 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved, Investigational Phase 4,Phase 3,Phase 1 130308-48-4, 138614-30-9 71364
2
Omalizumab Approved, Investigational Phase 4 242138-07-4
3
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 4 585-88-6, 585-86-4 493591
6 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
7 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
12 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
13 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
14 Kininogens Phase 4,Phase 3,Phase 1
15 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
16 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
17 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Vasodilator Agents Phase 4,Phase 3,Phase 1
20 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
21 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
22 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
23 Antibodies Phase 4,Phase 2,Phase 1
24 Immunoglobulins Phase 4,Phase 2,Phase 1
25 Anti-Allergic Agents Phase 4
26 Respiratory System Agents Phase 4
27 Anti-Asthmatic Agents Phase 4
28 Immunoglobulins, Intravenous Phase 4
29 Rho(D) Immune Globulin Phase 4
30 gamma-Globulins Phase 4
31 Ecallantide Approved, Investigational Phase 3,Phase 2 460738-38-9
32
tannic acid Approved Phase 3 1401-55-4
33
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
34
Tranexamic Acid Approved Phase 3 1197-18-8 5526
35 Pharmaceutical Solutions Phase 3,Phase 2
36 Antifibrinolytic Agents Phase 3
37 Fibrinolytic Agents Phase 3,Not Applicable
38 Coagulants Phase 3,Phase 2
39 Hemostatics Phase 3
40 Kallikreins Phase 3,Phase 2,Phase 1
41 Plasma Kallikrein Phase 3,Phase 2,Phase 1
42 Passionflower Phase 3
43
Danazol Approved Phase 2 17230-88-5 28417
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
45 Hormones Phase 2,Phase 1
46 Hormone Antagonists Phase 2,Phase 1
47 Estrogens Phase 2
48 Estrogen Antagonists Phase 2
49 Estrogen Receptor Antagonists Phase 2
50 Estrogen Receptor Modulators Phase 2

Interventional clinical trials:

(show top 50) (show all 90)
# 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 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 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
12 A Study of Icatibant for Acute Attacks of Hereditary Angioedema in Japanese Participants Completed NCT03888755 Phase 3 Icatibant
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 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
15 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
16 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
17 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
18 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
19 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
20 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
21 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
22 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
23 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
24 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
25 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
26 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
27 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
28 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
29 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
30 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
31 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
32 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
33 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
34 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
35 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
36 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
37 A Long Term Safety Study of BCX7353 in Hereditary Angioedema Recruiting NCT03472040 Phase 2, Phase 3 BCX7353
38 Study to Evaluate the Efficacy and Safety of BCX7353 as an Oral Treatment for the Prevention of HAE Attacks in Japan Recruiting NCT03873116 Phase 3 BCX7353 capsules;BCX7353 capsules;Placebo oral capsule
39 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
40 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
41 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
42 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
43 Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary Angioedema Unknown status NCT01832896 Phase 2 Ecallantide subcutaneous dosing
44 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
45 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
46 Safety of Ruconest in 2-13 Year Old Hereditary Angioedema (HAE) Patients Completed NCT01359969 Phase 2 rhC1INH
47 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
48 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
49 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
50 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2

Search NIH Clinical Center for C1 Inhibitor Deficiency

Inferred drug relations via UMLS 74 / NDF-RT 52 :
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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:

42
B Cells, Myeloid, Testes, Colon, Spleen, Whole Blood, Small Intestine
Sources

Publications for C1 Inhibitor Deficiency

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Articles related to C1 Inhibitor Deficiency:

(show top 50) (show all 194)
# Title Authors Year
1
Delayed diagnosis of hereditary angioedema with C1-inhibitor deficiency in iranian children and adolescents. ( 30690789 )
2019
2
Cost-Effectiveness of Prophylactic Medications for the Treatment of Hereditary Angioedema Due to C1 Inhibitor Deficiency: A Real-World U.S. Perspective. ( 30698094 )
2019
3
Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate. ( 30866985 )
2019
4
Serum fetuin-A, tumor necrosis factor alpha and C-reactive protein concentrations in patients with hereditary angioedema with C1-inhibitor deficiency. ( 30885236 )
2019
5
Flow-mediated vasodilation assay indicates no endothelial dysfunction in hereditary angioedema patients with C1-inhibitor deficiency. ( 30312677 )
2019
6
Lanadelumab for the Prophylactic Treatment of Hereditary Angioedema with C1 Inhibitor Deficiency: A Review of Preclinical and Phase I Studies. ( 30539362 )
2019
7
Long-term effects upon rituximab treatment of acquired angioedema due to C1-inhibitor deficiency. ( 30488963 )
2018
8
Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study. ( 30005674 )
2018
9
Long-term prophylaxis therapy in patients with hereditary angioedema with C1 inhibitor deficiency. ( 30056152 )
2018
10
Secreted Phospholipases A2 in Hereditary Angioedema With C1-Inhibitor Deficiency. ( 30083168 )
2018
11
Comparing Pathways of Bradykinin Formation in Whole Blood From Healthy Volunteers and Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 30333824 )
2018
12
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
13
The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories. ( 30479631 )
2018
14
Genotype-phenotype correlations in Brazilian patients with Hereditary Angioedema due to C1- inhibitor deficiency. ( 30556912 )
2018
15
Pharmacological Management of Hereditary Angioedema with C1-Inhibitor Deficiency in Pediatric Patients. ( 29214395 )
2018
16
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype. ( 29513108 )
2018
17
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. ( 29753808 )
2018
18
Icatibant for the treatment of hereditary angioedema with C1-inhibitor deficiency in adolescents and in children aged over 2 years. ( 29757016 )
2018
19
Efficacy of C1 inhibitor concentrate in hereditary angioedema with C1 inhibitor deficiency: Analysis in a French cohort. ( 29964227 )
2018
20
Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight. ( 29343682 )
2018
21
Splenic marginal zone lymphomas in acquired C1-inhibitor deficiency: clinical and molecular characterization. ( 30073422 )
2018
22
Treatment of hereditary angioedema due to C1 inhibitor deficiency in Argentina. ( 28825570 )
2017
23
Genetic Determinants of C1 Inhibitor Deficiency Angioedema Age of Onset. ( 29130992 )
2017
24
Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency. ( 28069032 )
2017
25
Diagnosis, Course, and Management of Angioedema in Patients With Acquired C1-Inhibitor Deficiency. ( 28284781 )
2017
26
International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. ( 27503784 )
2017
27
Hereditary C1 inhibitor deficiency is associated with high spontaneous amidase activity. ( 28222330 )
2017
28
Acquired C1 Inhibitor Deficiency. ( 28687105 )
2017
29
Clinical and biological response to rituximab treatment in 3 patients with acquired C1-inhibitor deficiency. ( 28866304 )
2017
30
The Janus faces of acquired angioedema: C1-inhibitor deficiency, lymphoproliferation and autoimmunity. ( 26068904 )
2016
31
Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27940765 )
2016
32
Prophylaxis in hereditary angioedema (HAE) with C1 inhibitor deficiency. ( 26972189 )
2016
33
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study. ( 27101900 )
2016
34
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
35
Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27326983 )
2016
36
Thyroid hormones and complement parameters in hereditary angioedema with C1-inhibitor deficiency. ( 27364943 )
2016
37
Bacteriuria increases the risk of edematous attacks in hereditary angioedema with C1-inhibitor deficiency. ( 27548887 )
2016
38
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
39
Current treatment options for hereditary angioedema due to C1 inhibitor deficiency. ( 26512744 )
2016
40
High prevalence of splenic marginal zone lymphoma among patients with acquired C1 inhibitor deficiency. ( 26728240 )
2016
41
Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre. ( 26796857 )
2016
42
Cases of acquired C1 inhibitor deficiency treated with rituximab. ( 27130715 )
2016
43
Electroconvulsive Therapy in Patients with C1 Inhibitor Deficiency: A Major or Minor Procedure? ( 27326990 )
2016
44
A nationwide study of acquired C1-inhibitor deficiency in France: Characteristics and treatment responses in 92 patients. ( 27537564 )
2016
45
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26270546 )
2015
46
Efficacy of on-demand treatment in reducing morbidity in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 26304015 )
2015
47
The safety of treatments for angioedema with hereditary C1 inhibitor deficiency. ( 26429506 )
2015
48
Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency. ( 26452350 )
2015
49
Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association. ( 26535898 )
2015
50
Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency. ( 26654922 )
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
Formation of Fibrin Clot (Clotting Cascade) 67
Show member pathways
 11.63 KLKB1 KNG1 SERPING1
2
Immune response Lectin induced complement pathway 23
Show member pathways
 11.46 C1S MASP2 SERPING1
3
Pertussis 38
11.28 C1S SERPING1
4
Complement and coagulation cascades 1 38
11.24 BDKRB2 C1S KLKB1 KNG1 MASP2 SERPING1
5
Staphylococcus aureus infection 38
11.2 C1S MASP2
6
Complement Pathway 65
Show member pathways
 11.16 C1S MASP2 SERPING1
7
Cell adhesion_Plasmin signaling 23
11.01 KLKB1 SERPING1
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 space GO:0005615 9.55 C1S KLKB1 KNG1 MASP2 SERPING1
2 platelet alpha granule lumen GO:0031093 9.26 KNG1 SERPING1
3 blood microparticle GO:0072562 9.13 C1S KNG1 SERPING1
4 extracellular region GO:0005576 9.1 C1S KLKB1 KNG1 MASP2 SERPING1 SPINT2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.67 C1S MASP2 SERPING1
2 inflammatory response GO:0006954 9.65 BDKRB2 KLKB1 KNG1
3 blood coagulation GO:0007596 9.58 KLKB1 KNG1 SERPING1
4 platelet degranulation GO:0002576 9.54 KNG1 SERPING1
5 regulation of complement activation GO:0030449 9.52 C1S SERPING1
6 complement activation GO:0006956 9.51 C1S MASP2
7 complement activation, classical pathway GO:0006958 9.5 C1S MASP2 SERPING1
8 blood circulation GO:0008015 9.46 BDKRB2 SERPING1
9 fibrinolysis GO:0042730 9.43 KLKB1 SERPING1
10 negative regulation of endopeptidase activity GO:0010951 9.43 KNG1 SERPING1 SPINT2
11 vasodilation GO:0042311 9.37 BDKRB2 KNG1
12 negative regulation of peptidase activity GO:0010466 9.33 KNG1 SERPING1 SPINT2
13 hemostasis GO:0007599 9.13 KLKB1 KNG1 SERPING1
14 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 KLKB1 MASP2
2 serine-type endopeptidase activity GO:0004252 9.33 C1S KLKB1 MASP2
3 serine-type endopeptidase inhibitor activity GO:0004867 9.26 SERPING1 SPINT2
4 serine-type peptidase activity GO:0008236 9.13 C1S KLKB1 MASP2
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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