MCID: CMP009
MIFTS: 45

Complement Deficiency malady

Immune diseases category
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Summaries for Complement Deficiency

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Disease Ontology:8 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:65 Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the... more...

Aliases & Classifications for Complement Deficiency

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Complement Deficiency, Aliases & Descriptions:

Name: Complement Deficiency 8 10 44
 
Complement Deficiency Disease 8 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:626
SNOMED-CT57 191014008, 24743004
NCIt39 C4691

Related Diseases for Complement Deficiency

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus31.1C4A, CR1
2meningococcal meningitis30.7CFP, MBL2
3meningitis30.7MBL2, CFP
4lupus erythematosus30.4CFP, C3, C1R, C1S, C4A
5nephritis29.9C4A, CFP, LIF, C3, CR1
6bacterial meningitis29.8CFP, C5AR1, CR1
7peritonitis29.8C5AR1, CR1, LIF
8glomerulonephritis29.8CR1, C5AR1, CFP, C3, MBL2
9arthritis29.5LIF, C3, C5AR1, CR1
10septic shock29.0MBL2, CR1, C5AR1, LIF, CFP, C1S
11rheumatic congestive heart failure10.5MBL2
12acute poststreptococcal glomerulonephritis10.5CFP
13capillary leak syndrome10.4C1S
14c1s deficiency10.4C1S
15mesangial proliferative glomerulonephritis10.3LIF, MBL2
16immunoglobulin alpha deficiency10.3C4A, MBL2
17adult respiratory distress syndrome10.3C5AR1
18membranoproliferative glomerulonephritis10.3MBL2, C3, CFP
19neisseria meningitidis infection10.2CFP, MBL2, C3
20hepatitis10.2
21meningococcal infection10.2
22pulmonary tuberculosis10.2C3, MBL2
23age related macular degeneration10.2C2, C3
24diabetes mellitus10.2CFP, C3
25multiple sclerosis10.2LIF, CR1, MBL2
26afibrinogenemia10.1CFP, C3, CR1
27malaria10.1CFP, LIF, CR1
28hepatitis b10.1MBL2, CR1
29hereditary angioedema10.1CR1, C1S
30complement component 5 deficiency10.1
31meningococcemia10.1
32complement component 4, partial deficiency of10.1
33proteinuria10.1C3, CR1, CFP
34berger disease10.1CFP, C3, MBL2, C4A
35vasculitis10.1C3, C1S, MBL2
36primary hyperoxaluria10.1MBL2, C3, CR1
37angioedema10.1C1R, C1S
38type 1 diabetes mellitus10.0CR1, C4A, C3
39neutropenia10.0LIF, MBL2, C5AR1
40pyomyositis9.9
41cutaneous lupus erythematosus9.9
42c1 inhibitor deficiency9.9
43pyoderma gangrenosum9.9
44myeloma9.9
45nephrotic syndrome9.9
46panniculitis9.9
47pyoderma9.9
48toxoplasmosis9.9
49sickle cell disease9.9
50c9 deficiency9.9

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:

32
Liver, Neutrophil

Animal Models for Complement Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Complement Deficiency:

36
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 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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Expression patterns in normal tissues for genes affiliated with Complement Deficiency

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Pathways for genes affiliated with Complement Deficiency

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Pathways related to Complement Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4C1R, MBL2, C3
2
Show member pathways
9.3C5, CFP, C3
39.3CR1, C3
47.7C3, C2, C1S, C5, C4A, C1R
5
Show member pathways
7.7C1S, C2, C5, C4A, C3, C1R
66.9C1R, C4A, MBL2, C5AR1, C3, C2
7
Show member pathways
6.6C1R, C2, C3, C5, CR1, MBL2
8
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
6.1C4A, MBL2, CR1, C5AR1, C5, C3
9
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
5.8CR1, C1R, C1S, CFP, C2, C3

Compounds for genes affiliated with Complement Deficiency

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Compounds related to Complement Deficiency according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1compstatin control peptide6110.0C3, C5AR1
2ndt 95137276110.0C3, C5AR1
3compstatin6110.0C3, C5AR1
4ibritumomab50 1110.8C1S, C1R
5basiliximab44 1110.8C1S, C1R
6gemtuzumab ozogamicin50 44 1111.7C1S, C1R
7adalimumab44 50 1111.7C1S, C1R
8nacl449.7LIF, C5AR1, MBL2
9abciximab44 1110.7C1S, C1R
10zymosan449.7CR1, MBL2
11cetuximab44 50 1111.6C1S, C1R
12rantes449.6MBL2, C5AR1, LIF
13hind iii449.6C4A, CR1
14polymyxin b449.6CR1, MBL2
15etanercept44 50 1111.5C1R, C1S
16mannan449.5CFP, CR1, MBL2
17steroid449.5LIF, C3, MBL2, C4A
18trastuzumab44 50 1111.4C1S, C1R
19creatinine449.4LIF, C3, C5AR1, MBL2
20prednisolone44 28 1111.2MBL2, CR1, C5AR1
21fmlp449.2LIF, C5AR1, CR1
22cysteine449.1CFP, LIF, C3, C5AR1, MBL2
23txb2449.1C1S, LIF, C5AR1, C4A
24agarose449.1LIF, C3, C5AR1, MBL2, C4A
25paraffin449.0LIF, CR1, MBL2
26methionine449.0LIF, C5, CR1
27n-formylmethionyl-leucylphenylalanine449.0CR1, C5AR1
28vitamin d449.0MBL2, CR1, C5AR1
29ethanol44 50 24 1112.0C5AR1, CR1, MBL2
30phospholipid448.9CR1, C5AR1, C3
31arginine448.9C1S, LIF, C5AR1, C4A
32endotoxin448.8C4A, CR1, C5AR1, LIF
33latex448.8MBL2, CR1, LIF, C1S
34polysaccharide448.8CFP, LIF, C3, CR1, MBL2
35fibrinogen448.8C1S, LIF, C3, C5AR1, MBL2
36phosphatidylinositol448.7CR1, C5AR1, C3, LIF
37superoxide44 249.6MBL2, CR1, C5AR1, LIF, CFP
38atp44 289.6MBL2, CR1, C5AR1, LIF
39mannose448.5C1S, CFP, C3, CR1, MBL2
40arachidonic acid44 28 24 1111.5CR1, C5AR1, LIF
41nitric oxide44 24 1110.3C1S, LIF, C5AR1, CR1, MBL2
42oxygen44 249.2LIF, C3, C5AR1, CR1, MBL2, C4A
43anaphylatoxin448.1C4A, CR1, C5AR1, C5, C3, CFP
44heparin44 28 24 1111.0C1S, CFP, LIF, C3, C5AR1, CR1
45calcium44 50 24 1110.8C1R, C1S, LIF, C5AR1, CR1, MBL2
46serine447.6C1R, 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/GeneDecks:

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

Sources for Complement 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet