MCID: C1N001
MIFTS: 38

C1 Inhibitor Deficiency malady

Immune diseases category

Summaries for C1 Inhibitor Deficiency

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9Disease Ontology, 66Wikipedia, 34MalaCards
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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: 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 compounds danazol and lys-[des-arg9]bradykinin have been mentioned in the context of this disorder. Affiliated tissues include testes, spleen and b cells.

Wikipedia:66 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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Sources:
9Disease Ontology, 11DISEASES, 63UMLS
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Classifications:

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


Aliases & Descriptions:

c1 inhibitor deficiency 9 11
angioedemas, hereditary 63
quincke edema 9


External Ids:

Disease Ontology9 DOID:0060002

Related Diseases for C1 Inhibitor Deficiency

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to C1 Inhibitor Deficiency:

34
Testes, 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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53PubMed
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Articles related to C1 Inhibitor Deficiency:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Management of dental-oral procedures in patients with hereditary angioedema due to C1 inhibitor deficiency. (23653967)
2013
2
A focused parameter update: hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. (23726531)
2013
3
Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency. (23634741)
2013
4
Angio-oedema due to hereditary C1 inhibitor deficiency in children. (22417938)
2012
5
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. (22197274)
2012
6
Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. (22126399)
2012
7
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. (21760740)
2011
8
Acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies. (22230421)
2011
9
Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients. (21039598)
2011
10
Kinin formation in C1 inhibitor deficiency. (20381848)
2010
11
Successful use of rituximab in acquired C1 inhibitor deficiency secondary to Sjogren's syndrome. (18372365)
2008
12
Acquired angioedema associated with hereditary angioedema due to C1 inhibitor deficiency. (18447143)
2008
13
Melkersson-Rosenthal syndrome and acquired C1 inhibitor deficiency. (18477847)
2008
14
Laboratory testing for C1 inhibitor deficiency: a comparison of two approaches to C1 inhibitor function. (17270096)
2007
15
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
16
Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. (17502473)
2007
17
Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. (16464219)
2006
18
Homozygous C1 inhibitor deficiency: The conclusion of a long search. (17157664)
2006
19
First case of homozygous C1 inhibitor deficiency. (17137866)
2006
20
Emergency treatment of acute attacks in hereditary angioedema due to C1 inhibitor deficiency: what is the evidence? (15857357)
2005
21
C1 inhibitor deficiency: management. (16197414)
2005
22
C1 inhibitor deficiency: consensus document. (15730382)
2005
23
C1 inhibitor deficiency: diagnosis. (15953110)
2005
24
C1 inhibitor deficiency. (16197408)
2005
25
Malignant bladder tumor transurethral resection in a patient with acquired C1 inhibitor deficiency. (12059901)
2002
26
Is acquired C1 inhibitor deficiency associated with lupus a distinct disease entity? Comment on the article by Cacoub et al. (12384953)
2002
27
A new type of acquired C1 inhibitor deficiency associated with systemic lupus erythematosus. (11508436)
2001
28
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
29
C1 inhibitor deficiency and angioedema of the small intestine masquerading as Crohn's disease. (10799090)
2000
30
Cardiopulmonary by-pass in a patient with acquired C1 inhibitor deficiency. (9151154)
1997
31
Autoimmune C1 inhibitor deficiency and angioedema. (9310729)
1997
32
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
33
Long-term treatment of C1 inhibitor deficiency with epsilon-aminocaproic acid in two patients. (8945491)
1996
34
C1 inhibitor deficiency in a patient with rheumatoid arthritis--increased risk of adverse effects of penicillamine? (8882051)
1996
35
Epitope mapping of C1 inhibitor autoantibodies from patients with acquired C1 inhibitor deficiency. (8596057)
1996
36
Acquired C1 inhibitor deficiency as a result of an autoantibody to the reactive center region of C1 inhibitor. (7512602)
1994
37
Autoimmune C1 inhibitor deficiency: report of eight patients. (8356982)
1993
38
Acquired C1 inhibitor deficiency with lymphoma causing recurrent angioedema. (8234113)
1993
39
Acquired C1 inhibitor deficiency revealing systemic lupus erythematosus. (8513191)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 31KEGG, 61Thomson Reuters, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 54QIAGEN, 55R&D Systems, 58SinoBiological
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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 pathway61
Immune response Lectin Induced complement pathway61
Immune response Classic complement pathway61
8.6CD93, MASP2, SERPING1, C1S
9
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
8.1BDKRB1, KNG1, MASP2, SERPING1, F12, C1S

Compounds for genes affiliated with C1 Inhibitor Deficiency

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB
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Compounds related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1danazol46 25 1212.0SERPING1, C1S
2lys-[des-arg9]bradykinin629.8KNG1, BDKRB1
3win 64338 hydrochloride629.8KNG1, BDKRB1
4r 715629.8KNG1, BDKRB1
5hoe 140629.8KNG1, BDKRB1
6des-arg(10)-kallidin469.8BDKRB1, KNG1
7icatibant46 30 1211.8KNG1, BDKRB1
8kallidin46 3010.7BDKRB1, KNG1
9enalaprilat469.7BDKRB1, KNG1
10aprotinin46 1210.7KNG1, C1S
11perindopril46 52 1211.7BDKRB1, KNG1
12diisopropylfluorophosphate469.6KNG1, PRCP
13aspirin46 52 30 2512.5C1S, F12, KNG1
14bradykinin62 30 2511.5F12, KNG1, BDKRB1
15captopril46 62 52 30 1213.4BDKRB1, KNG1
16fibrinogen469.4C1S, F12, MASP2
17heparin46 30 25 1212.2C1S, F12, SERPING1, KNG1
18thromboxane a246 2510.2BDKRB1, KNG1
19kininogen468.6BDKRB1, KNG1, PRCP, F12, C1S
20serine468.1SPINT2, C1S, F12, SERPING1, PRCP, MASP2

GO Terms for genes affiliated with C1 Inhibitor Deficiency

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17Gene Ontology
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Cellular components related to C1 Inhibitor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.7KNG1, 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:0109519.8SPINT2, SERPING1
3complement activationGO:0069569.6C1S, MASP2
4complement activation, classical pathwayGO:0069589.6MASP2, SERPING1, C1S
5platelet degranulationGO:0025769.4SERPING1, KNG1
6innate immune responseGO:0450879.1MASP2, SERPING1, F12, C1S
7blood coagulation, intrinsic pathwayGO:0075979.0KNG1, F12, SERPING1, PRCP
8blood coagulationGO:0075968.9F12, SERPING1, PRCP, KNG1

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:0048679.8SPINT2, SERPING1
2serine-type endopeptidase activityGO:0042529.1C1S, F12, MASP2
3protein bindingGO:0055156.6C1S, F12, SERPING1, PRCP, MASP2, KNG1

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet