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MCID: C1N001
MIFTS: 39

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 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, testes and small intestine.

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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 32.3 C1S SERPING1
2 hereditary angioedema 30.0 BDKRB2 C1S KLKB1 KNG1 SERPING1
3 angioedema 28.5 BDKRB2 C1S KLKB1 KNG1 SERPING1
4 complement component 4, partial deficiency of 11.6
5 angioedema induced by ace inhibitors 11.2
6 allergic urticaria 10.2 KNG1 SERPING1
7 complement deficiency 10.1 KNG1 SERPING1
8 lupus erythematosus 10.1
9 systemic lupus erythematosus 10.1
10 malignant essential hypertension 10.0 KLKB1 KNG1
11 lymphoma 10.0
12 autoimmune lymphoproliferative syndrome, type v 9.9
13 type i 9.9
14 renal hypertension 9.8 KLKB1 KNG1
15 melkersson-rosenthal syndrome 9.7
16 rheumatoid arthritis 9.7
17 sjogren syndrome 9.7
18 aging 9.7
19 arthritis 9.7
20 b-cell lymphomas 9.7
21 crohn's disease 9.7
22 marginal zone b-cell lymphoma 9.7
23 dermatomyositis 9.7
24 capillary leak syndrome 9.7
25 antiphospholipid syndrome 9.7
26 laryngitis 9.7
27 lymphosarcoma 9.7
28 neuropathy 9.7
29 systemic capillary leak syndrome 9.7
30 pleural disease 9.7 KLKB1 KNG1
31 brain edema 9.6 BDKRB2 KNG1
32 hydrops, lactic acidosis, and sideroblastic anemia 9.5 C1S KNG1 SERPING1
33 hypertension, essential 9.4 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 78)
# 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 Analgesics Phase 4,Phase 3,Phase 1
7 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
8 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
9 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1
10 Antirheumatic Agents Phase 4,Phase 3,Phase 1
11 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
12 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
13 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
15 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Kininogens Phase 4,Phase 3,Phase 1
17 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
18 Vasodilator Agents Phase 4,Phase 3,Phase 1
19 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
20 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
21 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
22 Antibodies Phase 4,Phase 1
23 Immunoglobulins Phase 4,Phase 1
24 Anti-Allergic Agents Phase 4
25 Anti-Asthmatic Agents Phase 4
26 Respiratory System Agents Phase 4
27
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
28
Tranexamic Acid Approved Phase 3 1197-18-8 5526
29 tannic acid Approved, Nutraceutical Phase 3
30 Pharmaceutical Solutions Phase 3,Phase 2
31 Antifibrinolytic Agents Phase 3
32 Coagulants Phase 3,Phase 2
33 Fibrinolytic Agents Phase 3,Not Applicable
34 Hemostatics Phase 3
35 Kallikreins Phase 3,Phase 2,Phase 1
36 Plasma Kallikrein Phase 3,Phase 2,Phase 1
37 Passionflower Nutraceutical Phase 3
38
Danazol Approved Phase 2 17230-88-5 28417
39 Estrogen Antagonists Phase 2
40 Estrogen Receptor Modulators Phase 2
41 Estrogens Phase 2
42 Hormone Antagonists Phase 2,Phase 1
43 Hormones Phase 2,Phase 1
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
45 Fertility Agents Phase 2
46
Digoxin Approved Phase 1 20830-75-5 30322 2724385
47
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
48
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
49
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
50
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594

Interventional clinical trials:

(show top 50) (show all 82)
# 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 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
12 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
13 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
14 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
15 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
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 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
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 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 Efficacy and Safety Study of BCX7353 as an Oral Treatment for the Prevention of Attacks in HAE Recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
38 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
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 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
42 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
43 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
44 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
45 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
46 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
47 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
48 EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)
49 A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor Completed NCT02247739 Phase 2
50 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00261053 Phase 2 i.v. recombinant human C1 inhibitor

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
B Cells, Testes, Small Intestine, Spleen
Sources

Publications for C1 Inhibitor Deficiency

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Articles related to C1 Inhibitor Deficiency:

(show top 50) (show all 104)
# Title Authors Year
1
Acquired C1 Inhibitor Deficiency. ( 28687105 )
2017
2
Genetic Determinants of C1 Inhibitor Deficiency Angioedema Age of Onset. ( 29130992 )
2017
3
Treatment of hereditary angioedema due to C1 inhibitor deficiency in Argentina. ( 28825570 )
2017
4
Hereditary C1 inhibitor deficiency is associated with high spontaneous amidase activity. ( 28222330 )
2017
5
Electroconvulsive Therapy in Patients with C1 Inhibitor Deficiency: A Major or Minor Procedure? ( 27326990 )
2016
6
Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27326983 )
2016
7
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
8
International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. ( 27503784 )
2016
9
Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre. ( 26796857 )
2016
10
Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27940765 )
2016
11
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study. ( 27101900 )
2016
12
Prophylaxis in hereditary angioedema (HAE) with C1 inhibitor deficiency. ( 26972189 )
2016
13
Cases of acquired C1 inhibitor deficiency treated with rituximab. ( 27130715 )
2016
14
Benefits of hydroxychloroquine in the treatment of a patient with angioedema due to acquired C1 inhibitor deficiency. ( 25457864 )
2015
15
The safety of treatments for angioedema with hereditary C1 inhibitor deficiency. ( 26429506 )
2015
16
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26270546 )
2015
17
Recombinant human C1 esterase inhibitor for the treatment of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE). ( 25669442 )
2015
18
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26154504 )
2015
19
Efficacy of on-demand treatment in reducing morbidity in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 26304015 )
2015
20
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. ( 25758562 )
2015
21
Current treatment options for hereditary angioedema due to C1 inhibitor deficiency. ( 26512744 )
2015
22
Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency. ( 26250409 )
2015
23
Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association. ( 26535898 )
2015
24
C1 inhibitor deficiency: 2014 United Kingdom Consensus Document. ( 25605519 )
2015
25
Bradykinin-mediated hereditary angioedema (non-estrogen-dependent) without C1 inhibitor deficiency. ( 25219115 )
2014
26
Acquired angioedema with C1 inhibitor deficiency secondary to splenic marginal zone B-cell lymphoma. ( 24970460 )
2014
27
A case of transient acquired C1 inhibitor deficiency. ( 24950848 )
2014
28
Improving C1 inhibitor deficiency (type 1 and type 2 hereditary angioedema) in Latin America. ( 25668899 )
2014
29
Fulminant systemic capillary leak syndrome due to C1 inhibitor deficiency complicating acute dermatomyositis: a case report. ( 24467750 )
2014
30
Acquired C1 inhibitor deficiency: should we monitor for associated antibody deficiency? ( 24565597 )
2014
31
US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. ( 24565617 )
2013
32
Recurrent angio-oedema--three cases of C1 inhibitor deficiency. ( 24968556 )
2013
33
Small bowel angioedema due to acquired C1 inhibitor deficiency: a case report and overview. ( 23255023 )
2013
34
In pursuit of excellence: an integrated care pathway for C1 inhibitor deficiency. ( 23607500 )
2013
35
Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe. ( 23937903 )
2013
36
A focused parameter update: hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. ( 23726531 )
2013
37
Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency. ( 23634741 )
2013
38
Management of dental-oral procedures in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 23653967 )
2013
39
Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients. ( 24054366 )
2013
40
Development of a disease-specific quality of life questionnaire for adult patients with hereditary angioedema due to C1 inhibitor deficiency (HAE-QoL): Spanish multi-centre research project. ( 22817696 )
2012
41
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. ( 22197274 )
2012
42
Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. ( 22126399 )
2012
43
The autoreactivity of B cells in hereditary angioedema due to C1 inhibitor deficiency. ( 22288585 )
2012
44
Angio-oedema due to hereditary C1 inhibitor deficiency in children. ( 22417938 )
2012
45
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. ( 21760740 )
2011
46
Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients. ( 21039598 )
2011
47
Acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies. ( 22230421 )
2011
48
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. ( 20804470 )
2011
49
Angioedema due to C1 inhibitor deficiency in 2010. ( 20496014 )
2010
50
Kinin formation in C1 inhibitor deficiency. ( 20381848 )
2010
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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) 66
Show member pathways
 11.63 KLKB1 KNG1 SERPING1
2
Immune response Lectin induced complement pathway 22
Show member pathways
 11.46 C1S MASP2 SERPING1
3
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 61
Show member pathways
 11.34 BDKRB2 KNG1
4
Pertussis 37
11.28 C1S SERPING1
5
Complement and coagulation cascades 1 37
11.24 BDKRB2 C1S KLKB1 KNG1 MASP2 SERPING1
6
Complement Pathway 64
Show member pathways
 11.16 C1S MASP2 SERPING1
7
Staphylococcus aureus infection 37
11.12 C1S MASP2
8
Cell adhesion_Plasmin signaling 22
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 exosome GO:0070062 9.72 C1S KLKB1 KNG1 MASP2 SERPING1
2 extracellular space GO:0005615 9.55 C1S KLKB1 KNG1 MASP2 SERPING1
3 platelet alpha granule lumen GO:0031093 9.26 KNG1 SERPING1
4 blood microparticle GO:0072562 9.13 C1S KNG1 SERPING1
5 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 16)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.71 C1S MASP2 SERPING1
2 innate immune response GO:0045087 9.7 C1S MASP2 SERPING1
3 inflammatory response GO:0006954 9.67 BDKRB2 KLKB1 KNG1
4 blood coagulation GO:0007596 9.63 KLKB1 KNG1 SERPING1
5 platelet degranulation GO:0002576 9.56 KNG1 SERPING1
6 regulation of complement activation GO:0030449 9.55 C1S SERPING1
7 complement activation, classical pathway GO:0006958 9.54 C1S MASP2 SERPING1
8 complement activation GO:0006956 9.51 C1S MASP2
9 negative regulation of endopeptidase activity GO:0010951 9.5 KNG1 SERPING1 SPINT2
10 blood circulation GO:0008015 9.48 BDKRB2 SERPING1
11 fibrinolysis GO:0042730 9.43 KLKB1 SERPING1
12 negative regulation of peptidase activity GO:0010466 9.43 KNG1 SERPING1 SPINT2
13 vasodilation GO:0042311 9.4 BDKRB2 KNG1
14 complement activation, lectin pathway GO:0001867 9.16 C1S MASP2
15 hemostasis GO:0007599 9.13 KLKB1 KNG1 SERPING1
16 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 9.54 C1S KLKB1 MASP2
2 serine-type endopeptidase activity GO:0004252 9.33 C1S KLKB1 MASP2
3 serine-type endopeptidase inhibitor activity GO:0004867 9.32 SERPING1 SPINT2
4 endopeptidase inhibitor activity GO:0004866 9.26 KNG1 SPINT2
5 serine-type peptidase activity GO:0008236 9.13 C1S KLKB1 MASP2
6 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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