Aliases & Classifications for Complement Deficiency

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Complement Deficiency, Aliases & Descriptions:

Name: Complement Deficiency 9 11 43
 
Complement Deficiency Disease 9 60


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Disease Ontology9 DOID:626
SNOMED-CT55 24743004, 191014008
NCIt38 C4691

Summaries for Complement Deficiency

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Disease Ontology:9 A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.

MalaCards based summary: Complement Deficiency, also known as complement deficiency disease, is related to systemic lupus erythematosus and meningococcal meningitis. An important gene associated with Complement Deficiency is CFP (complement factor properdin), and among its related pathways are Phagosome and Influenza A. The compounds compstatin control peptide and ndt 9513727 have been mentioned in the context of this disorder. Affiliated tissues include liver and neutrophil, and related mouse phenotypes are skeleton and homeostasis/metabolism.

Wikipedia:63 Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the... more...

Related Diseases for Complement Deficiency

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Diseases related to Complement Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus31.0C4A, CR1
2meningococcal meningitis30.7MBL2, CFP
3meningitis30.7MBL2, CFP
4lupus erythematosus30.4C1R, C1S, CFP, C3, C4A
5nephritis29.9CFP, LIF, C3, CR1, C4A
6bacterial meningitis29.8CFP, C5AR1, CR1
7peritonitis29.8CR1, C5AR1, LIF
8glomerulonephritis29.8CFP, C3, C5AR1, CR1, MBL2
9arthritis29.5CR1, C5AR1, C3, LIF
10rheumatic heart disease10.5MBL2
11acute poststreptococcal glomerulonephritis10.5CFP
12capillary leak syndrome10.4C1S
13c1s deficiency10.4C1S
14mesangial proliferative glomerulonephritis10.3MBL2, LIF
15immunoglobulin alpha deficiency10.3MBL2, C4A
16c2 deficiency10.3
17pregnancy loss, recurrent 110.3MBL2, LIF
18adult respiratory distress syndrome10.3C5AR1
19hepatitis10.2
20meningococcal infection10.2
21immunodeficiency due to a late component of complements deficiency10.2
22membranoproliferative glomerulonephritis10.2CFP, C3, MBL2
23neisseria meningitidis infection10.2CFP, C3, MBL2
24pulmonary tuberculosis10.2C3, MBL2
25macular degeneration, age-related, 110.2C3, C2
26diabetes mellitus, insulin-dependent10.2CFP, C3
27multiple sclerosis, disease progression, modifier of10.1LIF, CR1, MBL2
28afibrinogenemia10.1CR1, C3, CFP
29malaria10.1CFP, LIF, CR1
30hepatitis b10.1MBL2, CR1
31angioedema, hereditary, types i and ii10.1CR1, C1S
32meningococcemia10.1
33proteinuria10.1CFP, C3, CR1
34iga glomerulonephritis10.1CFP, C3, MBL2, C4A
35angioedema10.1C1S, C1R
36primary hyperoxaluria10.1C3, CR1, MBL2
37vasculitis10.1C1S, C3, MBL2
38neutropenia10.0LIF, C5AR1, MBL2
39complement factor d deficiency9.9
40c6 deficiency9.9
41c7 deficiency9.9
42c9 deficiency9.9
43c4a deficiency9.9
44c5 deficiency9.9
45c1r/c1s deficiency, combined9.9
46c1 inhibitor deficiency9.9
47pyoderma gangrenosum9.9
48pyomyositis9.9
49cutaneous lupus erythematosus9.9
50myeloma9.9

Graphical network of the top 20 diseases related to Complement Deficiency:



Diseases related to complement deficiency

Symptoms for Complement Deficiency

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Drugs & Therapeutics for Complement Deficiency

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Drug clinical trials:

Search ClinicalTrials for Complement Deficiency

Search NIH Clinical Center for Complement Deficiency

Genetic Tests for Complement Deficiency

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Anatomical Context for Complement Deficiency

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MalaCards organs/tissues related to Complement Deficiency:

31
Liver, Neutrophil

Animal Models for Complement Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Complement Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4C5AR1, C5, C3, LIF, CFP
2MP:00053768.2MBL2, C5AR1, C5, C3, LIF, CFP
3MP:00053877.9CFP, LIF, C3, C5, C5AR1, MBL2

Publications for Complement Deficiency

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Articles related to Complement Deficiency:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
Complement deficiency promotes cutaneous wound healing in mice. (25548229)
2015
2
Complement deficiency states and associated infections. (21624663)
2011
3
Clinical significance of complement deficiencies. (19758139)
2009
4
Inherited complement deficiencies and bacterial infections. (19388157)
2008
5
Complement deficiency and disease. (18495794)
2008
6
Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. (17890276)
2007
7
Meningococcal disease associated with an acute post-streptococcal complement deficiency. (17294226)
2007
8
Which complement assays and typings are necessary for the diagnosis of complement deficiency in patients with lupus erythematosus? A study of 25 patients. (16987709)
2006
9
Complement deficiency and disease: an update. (16026838)
2006
10
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. (15488949)
2005
11
Two related cases of primary complement deficiency. (14603997)
2003
12
Investigation for complement deficiency following meningococcal disease. (11861251)
2002
13
Is acute hemorrhagic edema of infancy a complement deficiency state? (10959754)
2000
14
Screening for complement deficiency. (10857109)
2000
15
Systemic lupus erythematosus and complement deficiency: clues to a novel role for the classical complement pathway in the maintenance of immune tolerance. (10408365)
1999
16
Complement deficiency states, disease susceptibility, and infection risk in systemic lupus erythematosus. (10524672)
1999
17
C1q knock-out mice for the study of complement deficiency in autoimmune disease. (10072632)
1998
18
C1q binds directly and specifically to surface blebs of apoptotic human keratinocytes: complement deficiency and systemic lupus erythematosus revisited. (9144462)
1997
19
Heterozygous C8beta complement deficiency does not predispose to meningococcal disease. (9182898)
1997
20
Screening for complement deficiency in bacterial meningitis. (9343286)
1997
21
Complement deficiency and immune complex disease. (8153874)
1994
22
Killing of meningococci by neutrophils: effect of vaccination on patients with complement deficiency. (8035035)
1994
23
Low prevalence of complement deficiencies among patients with meningococcal disease in Norway. (8469932)
1993
24
Complement deficiency states and meningococcal disease. (8288947)
1993
25
New procedure for the detection of complement deficiency by ELISA. Analysis of activation pathways and circumvention of rheumatoid factor influence. (8288879)
1993
26
Complement deficiency and antibody profile in survivors of meningococcal meningitis due to common serogroups in Italy. (1579859)
1992
27
Deficiency of mannan binding protein--a new complement deficiency syndrome. (1934604)
1991
28
Selective C7 complement deficiency causing recurrent meningococcal infection. (2071909)
1991
29
Inherited complement deficiency states and disease. (1802551)
1991
30
Inherited complement deficiency states: implications for immunity and immunological disease. (2147105)
1990
31
Nephrosis, peritonitis and complement deficiency. (2242328)
1990
32
Complement deficiency in Sweet's syndrome. (2803964)
1989
33
Complement deficiency: predisposing factor to autoimmune syndromes. (2691164)
1989
34
Immunodeficiency and complement deficiency states. (2663359)
1989
35
Systemic lupus erythematosus with complement deficiency and IgA anti-cardiolipin antibody. (3207615)
1988
36
Meningococcal infection and complement deficiency. (3670957)
1987
37
Meningococcemia and acquired complement deficiency. Association in patients with hepatic failure. (3729633)
1986
38
Meningococcal meningitis in the first case of complement deficiency. (2866311)
1985
39
C3 receptors, complement deficiency and SLE. (6697070)
1984
40
Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. (6433145)
1984
41
Complement deficiency syndromes and bacterial infections. (6665131)
1983
42
Complement, the immune-complex lattice, and the pathophysiology of complement-deficiency syndromes. (6138514)
1983
43
Defective opsonisation and complement deficiency in serum from patients with fulminant hepatic failure. (7000632)
1980
44
Toxoplasmosis dangerous in complement deficiency. (927459)
1977
45
Effect of selective complement deficiency on the rate of neutralization of enveloped viruses by human sera. (187701)
1977
46
Congenital and experimentally induced complement deficiency in rabbits. (125122)
1975
47
Complement and mesangiocapillary glomerulonephritis role of complement deficiency in the pathogenesis of nephritis. (4278792)
1974
48
Complement and mesangiocapillary glomerulonephritis: the role of complement deficiency in glomerulonephritis. (4220000)
1974
49
Nephrotic syndrome associated with complement deficiency and Staphylococcus albus bacteraemia. (5779330)
1969
50
Complement deficiency and chromosomalbreaks in a case of Swiss-type agammaglobulinaemia. (4170833)
1968

Variations for Complement Deficiency

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Expression for genes affiliated with Complement Deficiency

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Search GEO for disease gene expression data for Complement Deficiency.

Pathways for genes affiliated with Complement Deficiency

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Pathways related to Complement Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4C1R, C3, MBL2
2
Show member pathways
9.3C5, C3, CFP
39.3CR1, C3
4
Show member pathways
7.7C1R, C1S, C2, C3, C5, C4A
57.7C1R, C1S, C2, C3, C5, C4A
66.9C1R, C4A, MBL2, C5AR1, C5, C3
7
Show member pathways
6.6C4A, MBL2, CR1, C5, C3, C2
8
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
6.1C1R, C1S, C2, C3, C5, C5AR1
9
Show member pathways
Immune response Alternative complement pathway58
Immune response Lectin Induced complement pathway58
Immune response Classic complement pathway58
5.8C4A, MBL2, CR1, C5AR1, C5, C3

Compounds for genes affiliated with Complement Deficiency

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Compounds related to Complement Deficiency according to GeneCards Suite gene sharing:

(show all 46)
idCompoundScoreTop Affiliating Genes
1compstatin control peptide5910.0C3, C5AR1
2ndt 95137275910.0C3, C5AR1
3compstatin5910.0C3, C5AR1
4ibritumomab49 1210.8C1S, C1R
5basiliximab43 1210.8C1S, C1R
6gemtuzumab ozogamicin49 43 1211.7C1S, C1R
7adalimumab43 49 1211.7C1S, C1R
8nacl439.7LIF, C5AR1, MBL2
9abciximab43 1210.7C1S, C1R
10zymosan439.7CR1, MBL2
11cetuximab43 49 1211.6C1S, C1R
12rantes439.6MBL2, C5AR1, LIF
13hind iii439.6C4A, CR1
14polymyxin b439.6CR1, MBL2
15etanercept43 49 1211.5C1R, C1S
16mannan439.5CFP, CR1, MBL2
17steroid439.5LIF, C3, MBL2, C4A
18trastuzumab43 49 1211.4C1S, C1R
19creatinine439.4LIF, C3, C5AR1, MBL2
20prednisolone43 28 1211.2MBL2, CR1, C5AR1
21fmlp439.2LIF, C5AR1, CR1
22cysteine439.1CFP, LIF, C3, C5AR1, MBL2
23txb2439.1C1S, LIF, C5AR1, C4A
24agarose439.1LIF, C3, C5AR1, MBL2, C4A
25paraffin439.0LIF, CR1, MBL2
26methionine439.0LIF, C5, CR1
27n-formylmethionyl-leucylphenylalanine439.0CR1, C5AR1
28vitamin d439.0MBL2, CR1, C5AR1
29ethanol43 49 24 1212.0C5AR1, CR1, MBL2
30phospholipid438.9CR1, C5AR1, C3
31arginine438.9C1S, LIF, C5AR1, C4A
32endotoxin438.8C4A, CR1, C5AR1, LIF
33latex438.8MBL2, CR1, LIF, C1S
34polysaccharide438.8CFP, LIF, C3, CR1, MBL2
35fibrinogen438.8C1S, LIF, C3, C5AR1, MBL2
36phosphatidylinositol438.7CR1, C5AR1, C3, LIF
37superoxide43 249.6MBL2, CR1, C5AR1, LIF, CFP
38atp43 289.6MBL2, CR1, C5AR1, LIF
39mannose438.5C1S, CFP, C3, CR1, MBL2
40arachidonic acid43 28 24 1211.5CR1, C5AR1, LIF
41nitric oxide43 24 1210.3C1S, LIF, C5AR1, CR1, MBL2
42oxygen43 249.2LIF, C3, C5AR1, CR1, MBL2, C4A
43anaphylatoxin438.1C4A, CR1, C5AR1, C5, C3, CFP
44heparin43 28 24 1211.0C1S, CFP, LIF, C3, C5AR1, CR1
45calcium43 49 24 1210.8C1R, C1S, LIF, C5AR1, CR1, MBL2
46serine437.6C1R, C1S, C2, LIF, C3, C5AR1

GO Terms for genes affiliated with Complement Deficiency

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Cellular components related to Complement Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099868.8MBL2, CR1, C5AR1
2blood microparticleGO:00725628.6C1R, C1S, C3, C4A
3extracellular spaceGO:00056158.0CFP, C2, LIF, C3, C5, MBL2
4extracellular regionGO:00055767.2C4A, C1R, C1S, CFP, C2, C3

Biological processes related to Complement Deficiency according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1defense response to Gram-positive bacteriumGO:00508309.7MBL2, C5AR1
2positive regulation of phagocytosisGO:00507669.5MBL2, C3
3positive regulation vascular endothelial growth factor productionGO:00105759.5C3, C5
4complement activation, alternative pathwayGO:00069579.4C5, C3, CFP
5inflammatory responseGO:00069548.7C4A, C5AR1, C5, C3
6immune responseGO:00069558.6C1R, CFP, LIF, C3, C5AR1
7regulation of complement activationGO:00304497.9C4A, CR1, C5, C3, C2, CFP
8complement activationGO:00069567.4C4A, MBL2, C5, C3, C2, CFP
9complement activation, classical pathwayGO:00069586.8C2, C1S, C1R, C3, C5, CR1
10innate immune responseGO:00450876.5C1R, C1S, CFP, C2, C3, C5

Molecular functions related to Complement Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00051029.0MBL2, C5, C3, LIF
2endopeptidase inhibitor activityGO:00048668.9C4A, C5, C3

Products for genes affiliated with Complement Deficiency

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Sources for Complement Deficiency

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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