MCID: C1N001
MIFTS: 37

C1 Inhibitor Deficiency malady

Summaries for C1 Inhibitor Deficiency

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8Disease Ontology, 63Wikipedia, 32MalaCards
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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: 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 Cell adhesion Plasmin signaling and Staphylococcus aureus infection. The compounds danazol and lys-[des-arg9]bradykinin have been mentioned in the context of this disorder. Affiliated tissues include testes, t cells and tongue.

Wikipedia:63 Hereditary angioedema (types I and II) (also known as \"HAE\") is a rare, autosomal dominantly inherited... more...

Aliases & Classifications for C1 Inhibitor Deficiency

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8Disease Ontology, 10DISEASES, 60UMLS
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Aliases & Descriptions:

c1 inhibitor deficiency 8 10
angioedemas, hereditary 60
quincke edema 8


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Disease Ontology8 DOID:0060002

Related Diseases for C1 Inhibitor Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to C1 Inhibitor Deficiency:



Diseases related to c1 inhibitor deficiency

Clinical Features for C1 Inhibitor Deficiency

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Drugs & Therapeutics for C1 Inhibitor Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for C1 Inhibitor Deficiency

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Anatomical Context for C1 Inhibitor Deficiency

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32MalaCards
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MalaCards organs/tissues related to C1 Inhibitor Deficiency:

32
Testes, T cells, Tongue, Spleen, B cells, Small intestine

Animal Models for C1 Inhibitor Deficiency or affiliated genes

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Publications for C1 Inhibitor Deficiency

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50PubMed
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Articles related to C1 Inhibitor Deficiency:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
A focused parameter update: hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. (23726531)
2013
2
Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients. (24054366)
2013
3
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. (22197274)
2012
4
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. (21760740)
2011
5
Isolated angioedema of the bowel due to C1 esterase inhibitor deficiency: a case report and review of literature. (21933405)
2011
6
Successful treatment of acquired C1 inhibitor deficiency with icatibant. (20337653)
2010
7
Drug rash with eosinophilia and systemic symptoms after penicillin V administration in a patient with acquired C1 inhibitor acquired deficiency. (19639734)
2009
8
Acquired angioedema associated with hereditary angioedema due to C1 inhibitor deficiency. (18447143)
2008
9
Melkersson-Rosenthal syndrome and acquired C1 inhibitor deficiency. (18477847)
2008
10
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
11
Falsely normal C4 in a case of acquired C1 esterase inhibitor deficiency. (17513516)
2007
12
Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. (17502473)
2007
13
Acquired C1 esterase inhibitor deficiency: An atypical first presentation intra-operatively. (17042852)
2006
14
Pregnancy and C1 esterase inhibitor deficiency: a successful outcome. (16783582)
2006
15
Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. (16464219)
2006
16
Caesarean section in a parturient with C1 esterase inhibitor deficiency (angioneurotic oedema)]. (16310338)
2006
17
Angioedema in a patient with C1 esterase inhibitor deficiency. (17301438)
2005
18
Emergency treatment of acute attacks in hereditary angioedema due to C1 inhibitor deficiency: what is the evidence? (15857357)
2005
19
C1 inhibitor deficiency: management. (16197414)
2005
20
C1 inhibitor deficiency: diagnosis. (15953110)
2005
21
Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain. (15875532)
2005
22
Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency. (12767961)
2003
23
Acute upper airway angioedema secondary to acquired C1 esterase inhibitor deficiency: a case report. (14617586)
2003
24
Malignant bladder tumor transurethral resection in a patient with acquired C1 inhibitor deficiency. (12059901)
2002
25
Is acquired C1 inhibitor deficiency associated with lupus a distinct disease entity? Comment on the article by Cacoub et al. (12384953)
2002
26
Acquired C1 esterase inhibitor deficiency in two patients presenting with a lupus-like syndrome and anticardiolipin antibodies. (11954019)
2002
27
Lupus erythematosus associated with C1 inhibitor deficiency. (12227484)
2002
28
Increased vascular permeability in C1 inhibitor-deficient mice mediated by the bradykinin type 2 receptor. (11956243)
2002
29
Off-pump coronary artery bypass surgery in a patient with C1 esterase inhibitor deficiency. (11575557)
2001
30
C1 inhibitor deficiency: hereditary and acquired forms. (11908809)
2001
31
C1 inhibitor deficiency and angioedema of the small intestine masquerading as Crohn's disease. (10799090)
2000
32
Acquired C1 esterase inhibitor deficiency. (11085851)
2000
33
Acquired C1 esterase inhibitor deficiency. (10644276)
2000
34
Acquired C1 esterase inhibitor deficiency. (11085852)
2000
35
Hereditary or acquired angioedema caused by functional deficiency of C1 inhibitor--a still unfamiliar disease picture]. (10093876)
1999
36
Acquired angioedema with C1 inhibitor deficiency: is the distinction between type I and type II still relevant? (10592402)
1999
37
C1 esterase inhibitor deficiency, airway compromise, and anesthesia. (9706955)
1998
38
Pathogenetic and clinical aspects of C1 inhibitor deficiency. (9777420)
1998
39
An adverse reaction to angiotensin-converting enzyme inhibitors in a patient with neglected C1 esterase inhibitor deficiency. (9058701)
1997
40
Cardiopulmonary by-pass in a patient with acquired C1 inhibitor deficiency. (9151154)
1997
41
Autoimmune C1 inhibitor deficiency and angioedema. (9310729)
1997
42
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
43
Long-term treatment of C1 inhibitor deficiency with epsilon-aminocaproic acid in two patients. (8945491)
1996
44
Autoimmune C1 inhibitor deficiency: report of eight patients. (8356982)
1993
45
Angioedema and C1 inhibitor deficiency. (1524272)
1992
46
Antiepileptic drug-induced lymphoproliferative disorder associated with acquired C1 esterase inhibitor deficiency and angioedema. (1644161)
1992
47
Acute consumption of C1 inhibitor in a patient with acquired C1-inhibitor deficiency syndrome. (1744362)
1991
48
Complement activation during bypass in acquired C1 esterase inhibitor deficiency. (1898144)
1991
49
Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. (2723063)
1989
50
C1 inhibitor deficiency simulating systemic lupus erythematosus. (7073969)
1982

Genetic Variations for C1 Inhibitor Deficiency

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Expression for genes affiliated with C1 Inhibitor Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with C1 Inhibitor Deficiency

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Pathways for genes affiliated with C1 Inhibitor Deficiency

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12EMD Millipore, 29KEGG, 49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 55SinoBiological, 53Reactome, 52R&D Systems
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Compounds for genes affiliated with C1 Inhibitor Deficiency

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44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB
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Compounds related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1danazol44 11 2411.9SERPING1, C1S
2lys-[des-arg9]bradykinin599.8BDKRB1, KNG1
3win 64338 hydrochloride599.8KNG1, BDKRB1
4hoe 140599.8KNG1, BDKRB1
5r 715599.8BDKRB1, KNG1
6des-arg(10)-kallidin449.8KNG1, BDKRB1
7icatibant44 28 1111.8BDKRB1, KNG1
8kallidin44 2810.7BDKRB1, KNG1
9enalaprilat449.7BDKRB1, KNG1
10perindopril44 49 1111.7BDKRB1, KNG1
11captopril44 28 49 59 1113.5BDKRB1, KNG1
12bradykinin59 28 2411.5BDKRB1, F12, KNG1
13diisopropylfluorophosphate449.4KNG1, PRCP
14aspirin44 49 28 2412.4C1S, KNG1, F12
15heparin44 28 11 2412.2F12, SERPING1, C1S, KNG1
16fibrinogen449.0C1S, F12, MASP2
17kininogen448.6F12, PRCP, KNG1, BDKRB1, C1S
18serine448.0SPINT2, KNG1, SERPING1, MASP2, C1S, PRCP

GO Terms for genes affiliated with C1 Inhibitor Deficiency

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16Gene Ontology
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Cellular components related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.8SERPING1, KNG1
2extracellular regionGO:0055768.0SPINT2, SERPING1, MASP2, F12, KNG1, C1S

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endopeptidase activityGO:0109519.8SPINT2, SERPING1
2fibrinolysisGO:0427309.8SERPING1, F12
3complement activation, classical pathwayGO:0069589.5SERPING1, MASP2, C1S
4complement activationGO:0069569.4C1S, MASP2
5blood coagulation, intrinsic pathwayGO:0075979.0KNG1, F12, PRCP, SERPING1
6blood coagulationGO:0075969.0PRCP, SERPING1, KNG1, F12
7innate immune responseGO:0450878.9C1S, F12, MASP2, SERPING1
8proteolysisGO:0065088.9MASP2, C1S, F12, PRCP

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.0MASP2, F12, C1S
2protein bindingGO:0055156.7BDKRB1, KNG1, F12, PRCP, MASP2, CD93

Products for genes affiliated with C1 Inhibitor Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet