Aliases & Classifications for C1 Inhibitor Deficiency

About this section

C1 Inhibitor Deficiency, Aliases & Descriptions:

Name: C1 Inhibitor Deficiency 9 11
Angioedemas, Hereditary 60
 
Quincke Edema 9
Angioedema 60


External Ids:

Disease Ontology9 DOID:0060002

Summaries for C1 Inhibitor Deficiency

About this section


Disease Ontology:9 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 capillary leak syndrome. An important gene associated with C1 Inhibitor Deficiency is SERPING1 (serpin peptidase inhibitor, clade G (C1 inhibitor), member 1), and among its related pathways are Pertussis and Cell adhesion Plasmin signaling. The drug fluoxymesterone and the compounds danazol and lys-[des-arg9]bradykinin have been mentioned in the context of this disorder. Affiliated tissues include testes, b cells and spleen.

Related Diseases for C1 Inhibitor Deficiency

About this section

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



Diseases related to c1 inhibitor deficiency

Symptoms for C1 Inhibitor Deficiency

About this section

Drugs & Therapeutics for C1 Inhibitor Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for C1 Inhibitor Deficiency

Search NIH Clinical Center for C1 Inhibitor Deficiency

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for C1 Inhibitor Deficiency

About this section

Anatomical Context for C1 Inhibitor Deficiency

About this section

MalaCards organs/tissues related to C1 Inhibitor Deficiency:

31
Testes, B cells, Spleen, Small intestine

Animal Models for C1 Inhibitor Deficiency or affiliated genes

About this section

Publications for C1 Inhibitor Deficiency

About this section

Articles related to C1 Inhibitor Deficiency:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Recombinant human C1 esterase inhibitor for the treatment of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE). (25669442)
2015
2
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. (25758562)
2015
3
A case of transient acquired C1 inhibitor deficiency. (24950848)
2014
4
Fulminant systemic capillary leak syndrome due to C1 inhibitor deficiency complicating acute dermatomyositis: a case report. (24467750)
2014
5
Acquired angioedema with C1 inhibitor deficiency secondary to splenic marginal zone B-cell lymphoma. (24970460)
2014
6
Improving C1 inhibitor deficiency (type 1 and type 2 hereditary angioedema) in Latin America. (25668899)
2014
7
Acquired C1 inhibitor deficiency: should we monitor for associated antibody deficiency? (24565597)
2014
8
Management of dental-oral procedures in patients with hereditary angioedema due to C1 inhibitor deficiency. (23653967)
2013
9
US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. (24565617)
2013
10
A focused parameter update: hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. (23726531)
2013
11
Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency. (23634741)
2013
12
Angio-oedema due to hereditary C1 inhibitor deficiency in children. (22417938)
2012
13
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. (22197274)
2012
14
Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. (22126399)
2012
15
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. (21760740)
2011
16
Acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies. (22230421)
2011
17
Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients. (21039598)
2011
18
Kinin formation in C1 inhibitor deficiency. (20381848)
2010
19
Successful use of rituximab in acquired C1 inhibitor deficiency secondary to Sjogren's syndrome. (18372365)
2008
20
Acquired angioedema associated with hereditary angioedema due to C1 inhibitor deficiency. (18447143)
2008
21
Laboratory testing for C1 inhibitor deficiency: a comparison of two approaches to C1 inhibitor function. (17270096)
2007
22
An evaluation of tests used for the diagnosis and monitoring of C1 inhibitor deficiency: normal serum C4 does not exclude hereditary angio-oedema. (17614974)
2007
23
Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. (17502473)
2007
24
Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. (16464219)
2006
25
Homozygous C1 inhibitor deficiency: The conclusion of a long search. (17157664)
2006
26
Emergency treatment of acute attacks in hereditary angioedema due to C1 inhibitor deficiency: what is the evidence? (15857357)
2005
27
C1 inhibitor deficiency: management. (16197414)
2005
28
C1 inhibitor deficiency: consensus document. (15730382)
2005
29
Malignant bladder tumor transurethral resection in a patient with acquired C1 inhibitor deficiency. (12059901)
2002
30
Is acquired C1 inhibitor deficiency associated with lupus a distinct disease entity? Comment on the article by Cacoub et al. (12384953)
2002
31
A new type of acquired C1 inhibitor deficiency associated with systemic lupus erythematosus. (11508436)
2001
32
Teaching cases from the Royal Marsden and St Mary's Hospitals. Case 20. Renal impairment in non-Hodgkin's lymphoma with C1 inhibitor deficiency. (11426543)
2001
33
C1 inhibitor deficiency and angioedema of the small intestine masquerading as Crohn's disease. (10799090)
2000
34
Cardiopulmonary by-pass in a patient with acquired C1 inhibitor deficiency. (9151154)
1997
35
Long-term treatment of C1 inhibitor deficiency with epsilon-aminocaproic acid in two patients. (8945491)
1996
36
C1 inhibitor deficiency in a patient with rheumatoid arthritis--increased risk of adverse effects of penicillamine? (8882051)
1996
37
Epitope mapping of C1 inhibitor autoantibodies from patients with acquired C1 inhibitor deficiency. (8596057)
1996
38
Acquired C1 inhibitor deficiency as a result of an autoantibody to the reactive center region of C1 inhibitor. (7512602)
1994
39
Autoimmune C1 inhibitor deficiency: report of eight patients. (8356982)
1993
40
Angioneurotic edema with acquired C1- inhibitor deficiency and autoantibody to C1- inhibitor: response to plasmapheresis and cytotoxic therapy. (1583391)
1992
41
Angioedema and C1 inhibitor deficiency. (1524272)
1992
42
Acquired C1 inhibitor deficiency associated with systemic lupus erythematosus affecting the central nervous system. (1958096)
1991
43
C1 inhibitor deficiency: molecular and immunologic basis of hereditary and acquired angioedema. (1921329)
1991
44
Acquired C1 inhibitor deficiency: postmortem diagnosis. (2340921)
1990
45
Inherited C1 inhibitor deficiency. (2656079)
1989
46
Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. (2723063)
1989
47
Acquired C1 inhibitor deficiency with angioedema symptoms in a patient infected with Echinococcus granulosus. (4085219)
1985
48
C1 inhibitor deficiency simulating systemic lupus erythematosus. (7073969)
1982
49
Acquired C1 inhibitor deficiency in a case of lymphosarcoma of the spleen. Reversal of complement abnormalities after splenectomy. (583138)
1979
50
Acquired angioedema with lymphoproliferative disorder: association of C1 inhibitor deficiency with cellular abnormality. (1085645)
1976

Variations for C1 Inhibitor Deficiency

About this section

Expression for genes affiliated with C1 Inhibitor Deficiency

About this section
Search GEO for disease gene expression data for C1 Inhibitor Deficiency.

Pathways for genes affiliated with C1 Inhibitor Deficiency

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9SERPING1, C1S
29.8SERPING1, F12
39.7C1S, MASP2
4
Show member pathways
9.7KNG1, SERPING1
5
Show member pathways
9.5BDKRB1, KNG1
6
Show member pathways
8.8F12, SERPING1, PRCP, KNG1
7
Show member pathways
8.8F12, SERPING1, PRCP, KNG1
8
Show member pathways
Immune response Alternative complement pathway58
Immune response Lectin Induced complement pathway58
Immune response Classic complement pathway58
8.6CD93, MASP2, SERPING1, C1S
9
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
8.1BDKRB1, KNG1, MASP2, SERPING1, F12, C1S

Compounds for genes affiliated with C1 Inhibitor Deficiency

About this section

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

(show all 20)
idCompoundScoreTop Affiliating Genes
1danazol43 24 1212.0SERPING1, C1S
2lys-[des-arg9]bradykinin599.8KNG1, BDKRB1
3win 64338 hydrochloride599.8KNG1, BDKRB1
4r 715599.8KNG1, BDKRB1
5hoe 140599.8KNG1, BDKRB1
6des-arg(10)-kallidin439.8BDKRB1, KNG1
7icatibant43 28 1211.8KNG1, BDKRB1
8kallidin43 2810.7BDKRB1, KNG1
9enalaprilat439.7BDKRB1, KNG1
10aprotinin43 1210.7KNG1, C1S
11perindopril43 49 1211.7BDKRB1, KNG1
12diisopropylfluorophosphate439.6KNG1, PRCP
13aspirin43 49 28 2412.5C1S, F12, KNG1
14bradykinin59 28 2411.5F12, KNG1, BDKRB1
15captopril43 59 49 28 1213.4BDKRB1, KNG1
16fibrinogen439.4C1S, F12, MASP2
17heparin43 28 24 1212.2C1S, F12, SERPING1, KNG1
18thromboxane a243 2410.2BDKRB1, KNG1
19kininogen438.6BDKRB1, KNG1, PRCP, F12, C1S
20serine438.1SPINT2, C1S, F12, SERPING1, PRCP, MASP2

GO Terms for genes affiliated with C1 Inhibitor Deficiency

About this section

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.7KNG1, SERPING1
2blood microparticleGO:00725629.1KNG1, SERPING1, C1S
3extracellular regionGO:00055768.2KNG1, SPINT2, C1S, F12, SERPING1, MASP2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1fibrinolysisGO:00427309.9F12, SERPING1
2negative regulation of endopeptidase activityGO:00109519.8SERPING1, SPINT2
3complement activationGO:00069569.6C1S, MASP2
4complement activation, classical pathwayGO:00069589.6C1S, SERPING1, MASP2
5platelet degranulationGO:00025769.4KNG1, SERPING1
6innate immune responseGO:00450879.1MASP2, SERPING1, F12, C1S
7blood coagulation, intrinsic pathwayGO:00075979.0KNG1, PRCP, SERPING1, F12
8blood coagulationGO:00075968.9KNG1, PRCP, SERPING1, F12

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:00048679.8SERPING1, SPINT2
2serine-type endopeptidase activityGO:00042529.1MASP2, F12, C1S
3protein bindingGO:00055156.6BDKRB1, C1S, F12, SERPING1, PRCP, MASP2

Products for genes affiliated with C1 Inhibitor Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for C1 Inhibitor Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet