MCID: C1N001
MIFTS: 38

C1 Inhibitor Deficiency malady

Categories: Immune diseases

Aliases & Classifications for C1 Inhibitor Deficiency

Aliases & Descriptions for C1 Inhibitor Deficiency:

Name: C1 Inhibitor Deficiency 12 14
Angioedemas, Hereditary 69
Quincke Edema 12
Angioedema 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0060002

Summaries for C1 Inhibitor Deficiency

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

MalaCards based summary : C1 Inhibitor Deficiency, also known as angioedemas, hereditary, is related to angioedema and hereditary angioedema, and has symptoms including edema and joint swelling. 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 testes, b cells and spleen.

Related Diseases for C1 Inhibitor Deficiency

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

(show all 36)
id Related Disease Score Top Affiliating Genes
1 angioedema 30.8 C1S SERPING1
2 hereditary angioedema 11.5
3 acquired angioedema 11.4
4 complement component 4, partial deficiency of 11.1
5 angioedema induced by ace inhibitors 11.1
6 lymph node cancer 10.1 KNG1 SERPING1
7 acro coxo mesomelic dysplasia 10.1 C1S SERPING1
8 lupus erythematosus 10.1
9 chylocele of tunica vaginalis 10.0 KLKB1 KNG1
10 systemic lupus erythematosus 10.0
11 petrositis 10.0 KLKB1 KNG1
12 meesmann corneal dystrophy 10.0 C1S MASP2
13 urticaria 10.0 KLKB1 KNG1
14 malignant acth producing neoplasm of pituitary gland 9.9 C1S KNG1 SERPING1
15 charcot-marie-tooth disease 2a2b 9.9 C1S KNG1 SERPING1
16 lymphoma 9.9
17 histiocytoid hemangioma 9.9 BDKRB2 KNG1
18 hypertension, essential 9.8 BDKRB2 KLKB1 KNG1
19 capillary leak syndrome 9.7
20 antiphospholipid syndrome 9.7
21 rheumatoid arthritis 9.7
22 laryngitis 9.7
23 lymphosarcoma 9.7
24 melkersson-rosenthal syndrome 9.7
25 neuropathy 9.7
26 arthritis 9.7
27 systemic capillary leak syndrome 9.7
28 b-cell lymphomas 9.7
29 crohn's disease 9.7
30 marginal zone b-cell lymphoma 9.7
31 dermatomyositis 9.7
32 sjogren's syndrome 9.7
33 leukocyte adhesion deficiency, type iii 9.6 BDKRB2 C1S KLKB1 KNG1 SERPING1
34 mechanical ectropion 9.6 BDKRB2 C1S KLKB1 KNG1 SERPING1
35 lymphangioma 9.3 BDKRB2 C1S KLKB1 KNG1 MASP2 SERPING1
36 artemis deficiency 9.0 BDKRB2 C1S KLKB1 KNG1 MASP2 SERPING1

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



Diseases related to C1 Inhibitor Deficiency

Symptoms & Phenotypes for C1 Inhibitor Deficiency

UMLS symptoms related to C1 Inhibitor Deficiency:


edema, joint swelling

Drugs & Therapeutics for C1 Inhibitor Deficiency

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

(show top 50) (show all 112)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved Phase 4,Phase 3,Phase 1 138614-30-9, 130308-48-4 71364
2
Omalizumab Approved, Investigational Phase 4 242138-07-4
3 Analgesics Phase 4,Phase 3,Phase 1
4 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
5 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
6 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1
7 Antirheumatic Agents Phase 4,Phase 3,Phase 1
8
Bradykinin Phase 4,Phase 3,Phase 1 58-82-2 439201
9 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
10 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
11 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
13 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Kininogens Phase 4,Phase 3,Phase 1
15 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
16 Vasodilator Agents Phase 4,Phase 3,Phase 1
17 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
18 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
19 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
20 Antibodies Phase 4,Phase 2,Phase 1
21 Immunoglobulins Phase 4,Phase 2,Phase 1
22 Anti-Allergic Agents Phase 4
23 Anti-Asthmatic Agents Phase 4
24
Lactitol Phase 4 585-86-4 3871
25 Respiratory System Agents Phase 4
26 histidine Nutraceutical Phase 4
27
Tranexamic Acid Approved Phase 3 1197-18-8 5526
28
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
29 tannic acid Approved, Nutraceutical Phase 3
30 Pharmaceutical Solutions Phase 3,Phase 2
31 Antifibrinolytic Agents Phase 3
32 Coagulants Phase 3
33 Fibrinolytic Agents Phase 3
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
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
40
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
41
Dabrafenib Approved Phase 2 44462760 44516822
42
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
43
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
44
nivolumab Approved Phase 2 946414-94-4
45
Osimertinib Approved Phase 2 1421373-65-0 71496458
46
Palbociclib Approved Phase 2 571190-30-2 11431660 5005498 5330286
47
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
48
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
49
Trametinib Approved Phase 2 871700-17-3 11707110
50
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903

Interventional clinical trials:

(show top 50) (show all 80)
id Name Status NCT ID Phase
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
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 Not yet recruiting NCT02966314 Phase 4
6 C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation Withdrawn NCT01151735 Phase 4
7 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
8 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00438815 Phase 3
9 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3
10 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3
11 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
12 Efficacy Study of DX-88 (Ecallantide) to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00457015 Phase 3
13 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
14 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
15 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00225147 Phase 2, Phase 3
16 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3
17 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3
18 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3
19 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3
20 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3
21 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3
22 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3
23 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3
24 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262288 Phase 2, Phase 3
25 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3
26 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
27 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3
28 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3
29 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3
30 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3
31 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Active, not recruiting NCT01386658 Phase 3
32 A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Active, not recruiting NCT02316353 Phase 3
33 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 Active, not recruiting NCT02584959 Phase 3
34 Study of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE) Active, not recruiting NCT02865720 Phase 3
35 Long-term Safety and Efficacy Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Active, not recruiting NCT02741596 Phase 3
36 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3
37 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
38 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
39 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2
40 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2
41 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
42 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
43 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
44 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00261053 Phase 2
45 EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema Completed NCT01826916 Phase 2
46 A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor Completed NCT02247739 Phase 2
47 Kinetics, Efficacy and Safety of C1-Esteraseremmer-N Completed NCT00119431 Phase 2
48 Subcutaneous CINRYZE With Recombinant Human Hyaluronidase for Prevention of Angioedema Attacks Completed NCT01756157 Phase 2
49 Efficacy and Safety Study to Evaluate Two Doses of Oral DMI-5207 in Adult Subjects With Diabetic Macular Edema Completed NCT02002403 Phase 2
50 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2

Search NIH Clinical Center for C1 Inhibitor Deficiency

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for C1 Inhibitor Deficiency

Anatomical Context for C1 Inhibitor Deficiency

MalaCards organs/tissues related to C1 Inhibitor Deficiency:

39
Testes, B Cells, Spleen, Small Intestine

Publications for C1 Inhibitor Deficiency

Articles related to C1 Inhibitor Deficiency:

(show top 50) (show all 99)
id Title Authors Year
1
Cases of acquired C1 inhibitor deficiency treated with rituximab. ( 27130715 )
2016
2
Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27940765 )
2016
3
Electroconvulsive Therapy in Patients with C1 Inhibitor Deficiency: A Major or Minor Procedure? ( 27326990 )
2016
4
International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. ( 27503784 )
2016
5
Prophylaxis in hereditary angioedema (HAE) with C1 inhibitor deficiency. ( 26972189 )
2016
6
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
7
Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre. ( 26796857 )
2016
8
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study. ( 27101900 )
2016
9
Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27326983 )
2016
10
Current treatment options for hereditary angioedema due to C1 inhibitor deficiency. ( 26512744 )
2015
11
Recombinant human C1 esterase inhibitor for the treatment of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE). ( 25669442 )
2015
12
The safety of treatments for angioedema with hereditary C1 inhibitor deficiency. ( 26429506 )
2015
13
Efficacy of on-demand treatment in reducing morbidity in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 26304015 )
2015
14
C1 inhibitor deficiency: 2014 United Kingdom Consensus Document. ( 25605519 )
2015
15
Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency. ( 26250409 )
2015
16
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. ( 25758562 )
2015
17
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26154504 )
2015
18
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26270546 )
2015
19
Benefits of hydroxychloroquine in the treatment of a patient with angioedema due to acquired C1 inhibitor deficiency. ( 25457864 )
2015
20
Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association. ( 26535898 )
2015
21
Fulminant systemic capillary leak syndrome due to C1 inhibitor deficiency complicating acute dermatomyositis: a case report. ( 24467750 )
2014
22
Improving C1 inhibitor deficiency (type 1 and type 2 hereditary angioedema) in Latin America. ( 25668899 )
2014
23
A case of transient acquired C1 inhibitor deficiency. ( 24950848 )
2014
24
Bradykinin-mediated hereditary angioedema (non-estrogen-dependent) without C1 inhibitor deficiency. ( 25219115 )
2014
25
Acquired angioedema with C1 inhibitor deficiency secondary to splenic marginal zone B-cell lymphoma. ( 24970460 )
2014
26
Acquired C1 inhibitor deficiency: should we monitor for associated antibody deficiency? ( 24565597 )
2014
27
Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe. ( 23937903 )
2013
28
Management of dental-oral procedures in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 23653967 )
2013
29
A focused parameter update: hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. ( 23726531 )
2013
30
Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients. ( 24054366 )
2013
31
US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. ( 24565617 )
2013
32
Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency. ( 23634741 )
2013
33
Recurrent angio-oedema--three cases of C1 inhibitor deficiency. ( 24968556 )
2013
34
Small bowel angioedema due to acquired C1 inhibitor deficiency: a case report and overview. ( 23255023 )
2013
35
In pursuit of excellence: an integrated care pathway for C1 inhibitor deficiency. ( 23607500 )
2013
36
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
37
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. ( 22197274 )
2012
38
Angio-oedema due to hereditary C1 inhibitor deficiency in children. ( 22417938 )
2012
39
Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. ( 22126399 )
2012
40
The autoreactivity of B cells in hereditary angioedema due to C1 inhibitor deficiency. ( 22288585 )
2012
41
Acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies. ( 22230421 )
2011
42
Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients. ( 21039598 )
2011
43
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. ( 20804470 )
2011
44
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. ( 21760740 )
2011
45
Angioedema due to C1 inhibitor deficiency in 2010. ( 20496014 )
2010
46
Kinin formation in C1 inhibitor deficiency. ( 20381848 )
2010
47
Successful treatment of acquired C1 inhibitor deficiency with icatibant. ( 20337653 )
2010
48
Novel pathogenic mechanism and therapeutic approaches to angioedema associated with C1 inhibitor deficiency. ( 19796797 )
2009
49
Successful use of rituximab in acquired C1 inhibitor deficiency secondary to Sjogren's syndrome. ( 18372365 )
2008
50
Melkersson-Rosenthal syndrome and acquired C1 inhibitor deficiency. ( 18477847 )
2008

Variations for C1 Inhibitor Deficiency

Expression for C1 Inhibitor Deficiency

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

Pathways for C1 Inhibitor Deficiency

GO Terms for C1 Inhibitor Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 C1S KLKB1 KNG1 MASP2 SERPING1
2 extracellular space GO:0005615 9.62 KLKB1 KNG1 MASP2 SERPING1
3 platelet alpha granule lumen GO:0031093 9.16 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)
id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.7 C1S MASP2 SERPING1
2 immune system process GO:0002376 9.69 C1S MASP2 SERPING1
3 inflammatory response GO:0006954 9.67 BDKRB2 KLKB1 KNG1
4 blood coagulation GO:0007596 9.61 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 GO:0006956 9.54 C1S MASP2
8 complement activation, classical pathway GO:0006958 9.54 C1S MASP2 SERPING1
9 negative regulation of endopeptidase activity GO:0010951 9.5 KNG1 SERPING1 SPINT2
10 blood circulation GO:0008015 9.48 BDKRB2 SERPING1
11 vasodilation GO:0042311 9.46 BDKRB2 KNG1
12 negative regulation of peptidase activity GO:0010466 9.43 KNG1 SERPING1 SPINT2
13 fibrinolysis GO:0042730 9.4 KLKB1 SERPING1
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:

id 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 for C1 Inhibitor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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