MCID: CMP009
MIFTS: 44

Complement Deficiency malady

Immune diseases category

Summaries for Complement Deficiency

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9Disease Ontology, 66Wikipedia, 34MalaCards
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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: Complement Deficiency, also known as complement deficiency disease, is related to systemic lupus erythematosus and lupus erythematosus. 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 related mouse phenotypes are skeleton and homeostasis/metabolism.

Wikipedia:66 Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the... more...

Aliases & Classifications for Complement Deficiency

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Sources:
9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 41NCIt
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Classifications:

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


Aliases & Descriptions:

complement deficiency 9 11 46
complement deficiency disease 9 63


External Ids:

Disease Ontology9 DOID:626
SNOMED-CT59 191014008, 24743004
NCIt41 C4691

Related Diseases for Complement Deficiency

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Complement Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus30.7C4A, CR1
2lupus erythematosus30.6CFP, C3, C1R, C1S, C4A
3meningitis30.4MBL2, CFP
4meningococcal meningitis30.3CFP, MBL2
5glomerulonephritis30.1CR1, C5AR1, CFP, C3, MBL2
6nephritis30.1C4A, CFP, LIF, C3, CR1
7bacterial meningitis29.9CFP, C5AR1, CR1
8peritonitis29.9C5AR1, CR1, LIF
9arthritis29.8LIF, C3, C5AR1, CR1
10septic shock29.7MBL2, CR1, C5AR1, LIF, CFP, C1S
11hepatitis10.2
12meningococcal infection10.2
13rheumatic congestive heart failure10.1MBL2
14acute poststreptococcal glomerulonephritis10.1CFP
15capillary leak syndrome10.1C1S
16c1s deficiency10.1C1S
17complement component 5 deficiency10.1
18meningococcemia10.1
19complement component 4, partial deficiency of10.1
20mesangial proliferative glomerulonephritis10.1LIF, MBL2
21immunoglobulin alpha deficiency10.1C4A, MBL2
22adult respiratory distress syndrome10.1C5AR1
23membranoproliferative glomerulonephritis10.1MBL2, C3, CFP
24neisseria meningitidis infection10.1CFP, MBL2, C3
25protein s deficiency10.1C4A, MBL2
26pulmonary tuberculosis10.1C3, MBL2
27age related macular degeneration10.0C2, C3
28diabetes mellitus10.0CFP, C3
29multiple sclerosis10.0LIF, CR1, MBL2
30afibrinogenemia10.0CFP, C3, CR1
31malaria10.0CFP, LIF, CR1
32hepatitis b10.0MBL2, CR1
33hereditary angioedema10.0CR1, C1S
34proteinuria10.0C3, CR1, CFP
35iga glomerulonephritis10.0CFP, C3, MBL2, C4A
36angioedema10.0C1R, C1S
37primary hyperoxaluria10.0MBL2, C3, CR1
38vasculitis10.0C3, C1S, MBL2
39type 1 diabetes mellitus10.0CR1, C4A, C3
40neutropenia10.0LIF, MBL2, C5AR1
41liver cirrhosis10.0LIF, CR1, C1S
42lupus nephritis10.0CR1, C5AR1, MBL2
43connective tissue disease10.0C1S, CFP, C3, C1R
44pneumonia10.0C5AR1, CR1, MBL2
45immunodeficiency with hyper igm type 210.0CR1, C5AR1, CFP
46atherosclerosis10.0C3, C5AR1, MBL2, LIF
47urticaria10.0C1S, C5AR1, C1R
48factor v leiden thrombophilia9.9LIF, C5AR1, CR1, CFP
49tuberculosis9.9MBL2, CR1, C5AR1, C3
50viral infectious disease9.9MBL2, LIF, C5AR1, CR1

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Complement Deficiency

Drug clinical trials:

Search ClinicalTrials for Complement Deficiency

Search NIH Clinical Center for Complement Deficiency

Search CenterWatch for Complement Deficiency

Genetic Tests for Complement Deficiency

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Anatomical Context for Complement Deficiency

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Sources:
34MalaCards
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MalaCards organs/tissues related to Complement Deficiency:

34
Liver

Animal Models for Complement Deficiency or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Complement Deficiency:

38
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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Sources:
53PubMed
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Articles related to Complement Deficiency:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
Complement deficiency states and associated infections. (21624663)
2011
2
Clinical significance of complement deficiencies. (19758139)
2009
3
Inherited complement deficiencies and bacterial infections. (19388157)
2008
4
Complement deficiency and disease. (18495794)
2008
5
Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. (17890276)
2007
6
Meningococcal disease associated with an acute post-streptococcal complement deficiency. (17294226)
2007
7
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
8
Complement deficiency and disease: an update. (16026838)
2006
9
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. (15488949)
2005
10
Two related cases of primary complement deficiency. (14603997)
2003
11
Investigation for complement deficiency following meningococcal disease. (11861251)
2002
12
Is acute hemorrhagic edema of infancy a complement deficiency state? (10959754)
2000
13
Screening for complement deficiency. (10857109)
2000
14
Systemic lupus erythematosus and complement deficiency: clues to a novel role for the classical complement pathway in the maintenance of immune tolerance. (10408365)
1999
15
Complement deficiency states, disease susceptibility, and infection risk in systemic lupus erythematosus. (10524672)
1999
16
C1q knock-out mice for the study of complement deficiency in autoimmune disease. (10072632)
1998
17
C1q binds directly and specifically to surface blebs of apoptotic human keratinocytes: complement deficiency and systemic lupus erythematosus revisited. (9144462)
1997
18
Heterozygous C8beta complement deficiency does not predispose to meningococcal disease. (9182898)
1997
19
Screening for complement deficiency in bacterial meningitis. (9343286)
1997
20
Complement deficiency and immune complex disease. (8153874)
1994
21
Killing of meningococci by neutrophils: effect of vaccination on patients with complement deficiency. (8035035)
1994
22
Low prevalence of complement deficiencies among patients with meningococcal disease in Norway. (8469932)
1993
23
Complement deficiency states and meningococcal disease. (8288947)
1993
24
New procedure for the detection of complement deficiency by ELISA. Analysis of activation pathways and circumvention of rheumatoid factor influence. (8288879)
1993
25
Complement deficiency and antibody profile in survivors of meningococcal meningitis due to common serogroups in Italy. (1579859)
1992
26
Deficiency of mannan binding protein--a new complement deficiency syndrome. (1934604)
1991
27
Selective C7 complement deficiency causing recurrent meningococcal infection. (2071909)
1991
28
Inherited complement deficiency states and disease. (1802551)
1991
29
Inherited complement deficiency states: implications for immunity and immunological disease. (2147105)
1990
30
Nephrosis, peritonitis and complement deficiency. (2242328)
1990
31
Complement deficiency in Sweet's syndrome. (2803964)
1989
32
Complement deficiency: predisposing factor to autoimmune syndromes. (2691164)
1989
33
Immunodeficiency and complement deficiency states. (2663359)
1989
34
Systemic lupus erythematosus with complement deficiency and IgA anti-cardiolipin antibody. (3207615)
1988
35
Meningococcal infection and complement deficiency. (3670957)
1987
36
Meningococcemia and acquired complement deficiency. Association in patients with hepatic failure. (3729633)
1986
37
Meningococcal meningitis in the first case of complement deficiency. (2866311)
1985
38
C3 receptors, complement deficiency and SLE. (6697070)
1984
39
Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. (6433145)
1984
40
Complement deficiency syndromes and bacterial infections. (6665131)
1983
41
Complement, the immune-complex lattice, and the pathophysiology of complement-deficiency syndromes. (6138514)
1983
42
Complement deficiency and disease. (6962719)
1982
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Complement Deficiency

Search GEO for disease gene expression data for Complement Deficiency.

Pathways for genes affiliated with Complement Deficiency

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Sources:
51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database, 54QIAGEN, 61Thomson Reuters, 58SinoBiological
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Pathways related to Complement Deficiency according to GeneCards/GeneDecks:

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 Pathway39
Complement and Coagulation Cascades39
6.1C1R, C1S, C2, C3, C5, C5AR1
9
Show member pathways
Immune response Alternative complement pathway61
Immune response Lectin Induced complement pathway61
Immune response Classic complement pathway61
5.8C4A, MBL2, CR1, C5AR1, C5, C3

Compounds for genes affiliated with Complement Deficiency

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

(show all 46)
idCompoundScoreTop Affiliating Genes
1compstatin control peptide6210.0C3, C5AR1
2ndt 95137276210.0C3, C5AR1
3compstatin6210.0C3, C5AR1
4ibritumomab52 1210.8C1S, C1R
5basiliximab46 1210.8C1S, C1R
6gemtuzumab ozogamicin52 46 1211.7C1S, C1R
7adalimumab46 52 1211.7C1S, C1R
8nacl469.7LIF, C5AR1, MBL2
9abciximab46 1210.7C1S, C1R
10zymosan469.7CR1, MBL2
11cetuximab46 52 1211.6C1S, C1R
12rantes469.6MBL2, C5AR1, LIF
13hind iii469.6C4A, CR1
14polymyxin b469.6CR1, MBL2
15etanercept46 52 1211.5C1R, C1S
16mannan469.5CFP, CR1, MBL2
17steroid469.5LIF, C3, MBL2, C4A
18trastuzumab46 52 1211.4C1S, C1R
19creatinine469.4LIF, C3, C5AR1, MBL2
20prednisolone46 30 1211.2MBL2, CR1, C5AR1
21fmlp469.2LIF, C5AR1, CR1
22cysteine469.1CFP, LIF, C3, C5AR1, MBL2
23txb2469.1C1S, LIF, C5AR1, C4A
24agarose469.1LIF, C3, C5AR1, MBL2, C4A
25paraffin469.0LIF, CR1, MBL2
26methionine469.0LIF, C5, CR1
27n-formylmethionyl-leucylphenylalanine469.0CR1, C5AR1
28vitamin d469.0MBL2, CR1, C5AR1
29ethanol46 52 25 1212.0C5AR1, CR1, MBL2
30phospholipid468.9CR1, C5AR1, C3
31arginine468.9C1S, LIF, C5AR1, C4A
32endotoxin468.8C4A, CR1, C5AR1, LIF
33latex468.8MBL2, CR1, LIF, C1S
34polysaccharide468.8CFP, LIF, C3, CR1, MBL2
35fibrinogen468.8C1S, LIF, C3, C5AR1, MBL2
36phosphatidylinositol468.7CR1, C5AR1, C3, LIF
37superoxide46 259.6MBL2, CR1, C5AR1, LIF, CFP
38atp46 309.6MBL2, CR1, C5AR1, LIF
39mannose468.5C1S, CFP, C3, CR1, MBL2
40arachidonic acid46 30 25 1211.5CR1, C5AR1, LIF
41nitric oxide46 25 1210.3C1S, LIF, C5AR1, CR1, MBL2
42oxygen46 259.2LIF, C3, C5AR1, CR1, MBL2, C4A
43anaphylatoxin468.1C4A, CR1, C5AR1, C5, C3, CFP
44heparin46 30 25 1211.0C1S, CFP, LIF, C3, C5AR1, CR1
45calcium46 52 25 1210.8C1R, C1S, LIF, C5AR1, CR1, MBL2
46serine467.6C1R, C1S, C2, LIF, C3, C5AR1

GO Terms for genes affiliated with Complement Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099868.8MBL2, CR1, C5AR1
2blood microparticleGO:0725628.6C1R, C1S, C3, C4A
3extracellular spaceGO:0056158.0CFP, C2, LIF, C3, C5, MBL2
4extracellular regionGO:0055767.2C4A, C1R, C1S, CFP, C2, C3

Biological processes related to Complement Deficiency according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1defense response to Gram-positive bacteriumGO:0508309.7MBL2, C5AR1
2positive regulation of phagocytosisGO:0507669.5MBL2, C3
3positive regulation vascular endothelial growth factor productionGO:0105759.5C3, C5
4complement activation, alternative pathwayGO:0069579.4C5, C3, CFP
5inflammatory responseGO:0069548.7C4A, C5AR1, C5, C3
6immune responseGO:0069558.6C1R, CFP, LIF, C3, C5AR1
7regulation of complement activationGO:0304497.9C4A, CR1, C5, C3, C2, CFP
8complement activationGO:0069567.4C4A, MBL2, C5, C3, C2, CFP
9complement activation, classical pathwayGO:0069586.8C2, C1S, C1R, C3, C5, CR1
10innate immune responseGO:0450876.5C1R, C1S, CFP, C2, C3, C5

Molecular functions related to Complement Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051029.0MBL2, C5, C3, LIF
2endopeptidase inhibitor activityGO:0048668.9C4A, C5, C3

Products for genes affiliated with Complement Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Complement 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