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 spleen.

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, Spleen, Small intestine, B cells, Tongue

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
Management of dental-oral procedures in patients with hereditary angioedema due to C1 inhibitor deficiency. (23653967)
2013
2
Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency. (23634741)
2013
3
Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe. (23937903)
2013
4
Angio-oedema due to hereditary C1 inhibitor deficiency in children. (22417938)
2012
5
The autoreactivity of B cells in hereditary angioedema due to C1 inhibitor deficiency. (22288585)
2012
6
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
7
Isolated angioedema of the bowel due to C1 esterase inhibitor deficiency: a case report and review of literature. (21320328)
2011
8
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. (21760740)
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
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. (20804470)
2011
11
Kinin formation in C1 inhibitor deficiency. (20381848)
2010
12
Drug rash with eosinophilia and systemic symptoms after penicillin V administration in a patient with acquired C1 inhibitor acquired deficiency. (19639734)
2009
13
Novel pathogenic mechanism and therapeutic approaches to angioedema associated with C1 inhibitor deficiency. (19796797)
2009
14
Laboratory testing for C1 inhibitor deficiency: a comparison of two approaches to C1 inhibitor function. (17270096)
2007
15
Lymphoproliferative disease and acquired C1 inhibitor deficiency. (17488706)
2007
16
Homozygous C1 inhibitor deficiency: The conclusion of a long search. (17157664)
2006
17
First case of homozygous C1 inhibitor deficiency. (17137866)
2006
18
Episodes of angioedema in children with C1 esterase inhibitor deficiency]. (16875273)
2006
19
Correction of recurrent angioedema related to C1 esterase inhibitor deficiency as a secondary event following nonmyeloablative allogeneic stem cell transplantation in a patient with myelofibrosis. (15531899)
2005
20
C1 inhibitor deficiency: consensus document. (15730382)
2005
21
C1 inhibitor deficiency. (16197408)
2005
22
Acquired C1 esterase inhibitor deficiency or serendipity? The chance finding of a paraprotein after an apparently low C1 esterase inhibitor concentration. (15047756)
2004
23
Angioedema of the tongue due to acquired C1 esterase inhibitor deficiency. (12635405)
2003
24
Spontaneous regression of acquired C1 esterase inhibitor deficiency associated with splenic marginal zone lymphoma presenting with recurrent angio-oedema. (12354812)
2002
25
A new type of acquired C1 inhibitor deficiency associated with systemic lupus erythematosus. (11508436)
2001
26
Hereditary C1 esterase inhibitor deficiency type I. Divergence of clinical symptoms and laboratory chemical findings]. (11405163)
2001
27
Acquired C1 esterase inhibitor deficiency. (11085850)
2000
28
Acquired C1 esterase inhibitor deficiency. (11085854)
2000
29
Acquired C1 inhibitor deficiency associated with systemic lupus erythematosus, secondary antiphospholipid syndrome and IgM monoclonal paraproteinaemia. (10088953)
1999
30
Angioedema caused by C1 esterase inhibitor deficiency]. (9651572)
1998
31
An adverse reaction to angiotensin-converting enzyme inhibitors in a patient with neglected C1 esterase inhibitor deficiency. (9058701)
1997
32
Cardiopulmonary by-pass in a patient with acquired C1 inhibitor deficiency. (9151154)
1997
33
Human parvovirus infection: rheumatic manifestations, angioedema, C1 esterase inhibitor deficiency, ANA positivity, and possible onset of systemic lupus erythematosus. (8823689)
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
Acquired C1 inhibitor deficiency with lymphoma causing recurrent angioedema. (8234113)
1993
38
Acquired C1 inhibitor deficiency revealing systemic lupus erythematosus. (8513191)
1993
39
Acquired C1 esterase inhibitor deficiency causing intestinal angioedema: CT appearance. (8249728)
1993
40
Angioneurotic edema with acquired C1- inhibitor deficiency and autoantibody to C1- inhibitor: response to plasmapheresis and cytotoxic therapy. (1583391)
1992
41
Antiepileptic drug-induced lymphoproliferative disorder associated with acquired C1 esterase inhibitor deficiency and angioedema. (1644161)
1992
42
The C1 inhibitor deficiency. A review. (1489854)
1992
43
Acquired C1 inhibitor deficiency associated with systemic lupus erythematosus affecting the central nervous system. (1958096)
1991
44
C1 esterase inhibitor deficiency as a rare cause of recurrent acute abdominal pain]. (2044893)
1991
45
Acquired C1 inhibitor deficiency: postmortem diagnosis. (2340921)
1990
46
Inherited C1 inhibitor deficiency. (2656079)
1989
47
The metabolism of C1 inhibitor and C1q in patients with acquired C1-inhibitor deficiency. (3484761)
1986
48
Acquired C1 inhibitor deficiency with angioedema symptoms in a patient infected with Echinococcus granulosus. (4085219)
1985
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

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 hydrochloride599.8BDKRB1, KNG1
4r 715599.8BDKRB1, KNG1
5hoe 140599.8BDKRB1, KNG1
6des-arg(10)-kallidin449.8BDKRB1, KNG1
7icatibant44 28 1111.8KNG1, BDKRB1
8kallidin44 2810.7KNG1, BDKRB1
9enalaprilat449.7BDKRB1, KNG1
10perindopril44 49 1111.7BDKRB1, KNG1
11captopril44 28 49 59 1113.5KNG1, BDKRB1
12bradykinin59 28 2411.5BDKRB1, KNG1, F12
13diisopropylfluorophosphate449.4KNG1, PRCP
14aspirin44 49 28 2412.4F12, KNG1, C1S
15heparin44 28 11 2412.2SERPING1, F12, KNG1, C1S
16fibrinogen449.0MASP2, F12, C1S
17kininogen448.6PRCP, F12, KNG1, BDKRB1, C1S
18serine448.0C1S, KNG1, F12, PRCP, MASP2, SERPING1

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:0069589.5C1S, MASP2, SERPING1
4complement activationGO:0069569.4MASP2, C1S
5blood coagulation, intrinsic pathwayGO:0075979.0SERPING1, PRCP, F12, KNG1
6blood coagulationGO:0075969.0SERPING1, PRCP, F12, KNG1
7innate immune responseGO:0450878.9C1S, F12, MASP2, SERPING1
8proteolysisGO:0065088.9C1S, F12, PRCP, MASP2

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