MCID: C1N001
MIFTS: 40

C1 Inhibitor Deficiency malady

Immune diseases category
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Summaries for C1 Inhibitor Deficiency

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Disease Ontology:8 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. 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.

Wikipedia:65 Hereditary angioedema (types I, II and III) (also known as \"HAE\") is a rare, autosomal dominantly... more...

Aliases & Classifications for C1 Inhibitor Deficiency

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C1 Inhibitor Deficiency, Aliases & Descriptions:

Name: C1 Inhibitor Deficiency 8 10
Angioedemas, Hereditary 62
 
Quincke's Edema 62
Quincke Edema 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases


External Ids:

Disease Ontology8 DOID:0060002

Related Diseases for C1 Inhibitor Deficiency

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



Diseases related to c1 inhibitor deficiency

Symptoms for C1 Inhibitor Deficiency

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Drugs & Therapeutics for C1 Inhibitor Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for C1 Inhibitor Deficiency

Inferred drug relations via UMLS62/NDF-RT40:

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:

32
Testes, B cells, Spleen, Small intestine

Animal Models for C1 Inhibitor Deficiency or affiliated genes

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Publications for C1 Inhibitor Deficiency

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Articles related to C1 Inhibitor Deficiency:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
A case of transient acquired C1 inhibitor deficiency. (24950848)
2014
2
Fulminant systemic capillary leak syndrome due to C1 inhibitor deficiency complicating acute dermatomyositis: a case report. (24467750)
2014
3
Acquired angioedema with C1 inhibitor deficiency secondary to splenic marginal zone B-cell lymphoma. (24970460)
2014
4
Acquired C1 inhibitor deficiency: should we monitor for associated antibody deficiency? (24565597)
2014
5
Management of dental-oral procedures in patients with hereditary angioedema due to C1 inhibitor deficiency. (23653967)
2013
6
US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. (24565617)
2013
7
A focused parameter update: hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. (23726531)
2013
8
Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency. (23634741)
2013
9
Angio-oedema due to hereditary C1 inhibitor deficiency in children. (22417938)
2012
10
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. (22197274)
2012
11
Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. (22126399)
2012
12
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. (21760740)
2011
13
Acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies. (22230421)
2011
14
Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients. (21039598)
2011
15
Kinin formation in C1 inhibitor deficiency. (20381848)
2010
16
Successful use of rituximab in acquired C1 inhibitor deficiency secondary to Sjogren's syndrome. (18372365)
2008
17
Acquired angioedema associated with hereditary angioedema due to C1 inhibitor deficiency. (18447143)
2008
18
Melkersson-Rosenthal syndrome and acquired C1 inhibitor deficiency. (18477847)
2008
19
Laboratory testing for C1 inhibitor deficiency: a comparison of two approaches to C1 inhibitor function. (17270096)
2007
20
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
21
Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. (17502473)
2007
22
Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. (16464219)
2006
23
Homozygous C1 inhibitor deficiency: The conclusion of a long search. (17157664)
2006
24
Emergency treatment of acute attacks in hereditary angioedema due to C1 inhibitor deficiency: what is the evidence? (15857357)
2005
25
C1 inhibitor deficiency: management. (16197414)
2005
26
C1 inhibitor deficiency: consensus document. (15730382)
2005
27
C1 inhibitor deficiency: diagnosis. (15953110)
2005
28
Malignant bladder tumor transurethral resection in a patient with acquired C1 inhibitor deficiency. (12059901)
2002
29
Is acquired C1 inhibitor deficiency associated with lupus a distinct disease entity? Comment on the article by Cacoub et al. (12384953)
2002
30
A new type of acquired C1 inhibitor deficiency associated with systemic lupus erythematosus. (11508436)
2001
31
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
32
C1 inhibitor deficiency and angioedema of the small intestine masquerading as Crohn's disease. (10799090)
2000
33
Cardiopulmonary by-pass in a patient with acquired C1 inhibitor deficiency. (9151154)
1997
34
Analysis of an exon 1 polymorphism of the B2 bradykinin receptor gene and its transcript in normal subjects and patients with C1 inhibitor deficiency. (9003221)
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

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Expression for genes affiliated with C1 Inhibitor Deficiency

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Expression patterns in normal tissues for genes affiliated with C1 Inhibitor Deficiency

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

Pathways for genes affiliated with C1 Inhibitor Deficiency

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Pathways related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

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 pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
8.6CD93, MASP2, SERPING1, C1S
9
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
8.1BDKRB1, KNG1, MASP2, SERPING1, F12, C1S

Compounds for genes affiliated with C1 Inhibitor Deficiency

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Compounds related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1danazol44 24 1112.0SERPING1, C1S
2lys-[des-arg9]bradykinin619.8KNG1, BDKRB1
3win 64338 hydrochloride619.8KNG1, BDKRB1
4r 715619.8KNG1, BDKRB1
5hoe 140619.8KNG1, BDKRB1
6des-arg(10)-kallidin449.8BDKRB1, KNG1
7icatibant44 28 1111.8KNG1, BDKRB1
8kallidin44 2810.7BDKRB1, KNG1
9enalaprilat449.7BDKRB1, KNG1
10aprotinin44 1110.7KNG1, C1S
11perindopril44 50 1111.7BDKRB1, KNG1
12diisopropylfluorophosphate449.6KNG1, PRCP
13aspirin44 50 28 2412.5C1S, F12, KNG1
14bradykinin61 28 2411.5F12, KNG1, BDKRB1
15captopril44 61 50 28 1113.4BDKRB1, KNG1
16fibrinogen449.4C1S, F12, MASP2
17heparin44 28 24 1112.2C1S, F12, SERPING1, KNG1
18thromboxane a244 2410.2BDKRB1, KNG1
19kininogen448.6BDKRB1, KNG1, PRCP, F12, C1S
20serine448.1SPINT2, C1S, F12, SERPING1, PRCP, MASP2

GO Terms for genes affiliated with C1 Inhibitor Deficiency

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Cellular components related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.7KNG1, SERPING1
2blood microparticleGO:0725629.1KNG1, SERPING1, C1S
3extracellular regionGO:0055768.2KNG1, SPINT2, C1S, F12, SERPING1, MASP2

Biological processes related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1fibrinolysisGO:0427309.9F12, SERPING1
2negative regulation of endopeptidase activityGO:0109519.8SERPING1, SPINT2
3complement activationGO:0069569.6C1S, MASP2
4complement activation, classical pathwayGO:0069589.6C1S, SERPING1, MASP2
5platelet degranulationGO:0025769.4KNG1, SERPING1
6innate immune responseGO:0450879.1MASP2, SERPING1, F12, C1S
7blood coagulation, intrinsic pathwayGO:0075979.0KNG1, PRCP, SERPING1, F12
8blood coagulationGO:0075968.9KNG1, PRCP, SERPING1, F12

Molecular functions related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:0048679.8SERPING1, SPINT2
2serine-type endopeptidase activityGO:0042529.1MASP2, F12, C1S
3protein bindingGO:0055156.6BDKRB1, C1S, F12, SERPING1, PRCP, MASP2

Products for genes affiliated with C1 Inhibitor Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for C1 Inhibitor Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet