MCID: CMP009
MIFTS: 47

Complement Deficiency malady

Summaries for Complement Deficiency

About this section
Sources:
8Disease Ontology, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: Complement Deficiency, also known as complement deficiency disease, is related to lupus erythematosus and systemic lupus erythematosus. An important gene associated with Complement Deficiency is CFP (complement factor properdin), and among its related pathways are Phagosome and Terminal pathway of complement. The compounds compstatin control peptide and ndt 9513727 have been mentioned in the context of this disorder. Affiliated tissues include liver, t cells and ovary, and related mouse phenotypes are immune system and homeostasis/metabolism.

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

Aliases & Classifications for Complement Deficiency

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 56SNOMED-CT
See all sources

Aliases & Descriptions:

complement deficiency 8 10 44
complement deficiency disease 8 60


External Ids:

Disease Ontology8 DOID:626
SNOMED-CT56 191014008, 24743004
NCIt39 C4691

Related Diseases for Complement Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus30.6C3, C1R, C1S, APOH, C4A, CFP
2systemic lupus erythematosus30.6C4A, CR1
3hepatitis30.3CR1
4meningitis30.3MBL2, CFI, CFP
5glomerulonephritis30.1MBL2, CR1, CFI, CFP, C5AR1, C3
6nephrotic syndrome29.8CFI
7bacterial meningitis29.8C5AR1, CFP, CR1
8arthritis29.8C3, C5AR1, LIF, CR1
9peritonitis29.8CR1, LIF, CFI, C5AR1
10complement component 5 deficiency10.0
11c3 deficiency10.0
12complement component 4, partial deficiency of10.0
13hemolytic-uremic syndrome10.0CFI
14dermatitis10.0LIF
15atypical hemolytic-uremic syndrome10.0CFI
16complement factor i deficiency10.0CFI
17endometriosis10.0LIF
18protein s deficiency10.0APOH
19afibrinogenemia10.0CFI
20infertility10.0LIF
21thrombocytopenia10.0APOH
22meningococcal meningitis10.0MBL2, CFP
23diabetes mellitus10.0C3, CFP
24age related macular degeneration10.0C3, C2
25capillary leak syndrome10.0C1S
26myocardial infarction10.0C1S
27acute poststreptococcal glomerulonephritis10.0CFP
28sarcoidosis10.0CR1
29mesangial proliferative glomerulonephritis10.0MBL2, LIF
30antiphospholipid syndrome10.0APOH
31immunoglobulin alpha deficiency10.0MBL2, C4A
32sepsis10.0CFI, CFP
33membranoproliferative glomerulonephritis10.0C3, CFP, MBL2
34c7 deficiency10.0C7
35hepatitis b10.0CR1, MBL2
36collagen disease10.0MBL2, APOH
37angioedema10.0C1R, C1S
38deficiency anemia10.0CR1, LIF
39uremia10.0CR1
40retinal artery occlusion10.0APOH
41neisseria meningitidis infection10.0MBL2, ROM1, CFP, C3
42adult respiratory distress syndrome10.0C5AR1
43stomach cancer10.0LIF, MBL2
44iga glomerulonephritis10.0C3, CFP, C4A, MBL2
45sudden infant death syndrome10.0C4A, C4B
46cystic fibrosis10.0MBL2, CR1
47malaria10.0CFP, LIF, CR1
48multiple sclerosis10.0MBL2, C4B, CR1, LIF
49neutropenia10.0MBL2, LIF, C5AR1
50proteinuria10.0APOH, CR1, CFP, C3

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



Diseases related to complement deficiency

Clinical Features for Complement Deficiency

About this section

Drugs & Therapeutics for Complement Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Complement Deficiency

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Complement Deficiency:

32
Liver, T cells, Ovary, Spleen, Colon, Kidney

Animal Models for Complement Deficiency or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Complement Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.8MBL2, C4B, LIF, LMNB2, CFP, C5AR1
2MP:00053766.9MBL2, APOH, C4B, LIF, LMNB2, CFI

Publications for Complement Deficiency

About this section
Sources:
50PubMed
See all sources

Articles related to Complement Deficiency:

(show top 50)    (show all 423)
idTitleAuthorsYear
1
Characteristics of the complement system gene expression deficiency in patients with symptomatic pulmonary embolism. (23726092)
2013
2
Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop mutation. (21057849)
2011
3
Molecular characterization of Complement Factor I deficiency in two Spanish families. (18374984)
2008
4
Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene. (18062908)
2008
5
Complement receptor CR2/CR1 deficiency protects mice from collagen-induced arthritis and associates with reduced autoantibodies to type II collagen and citrullinated antigens. (18374982)
2008
6
Complement-dependent enhancement of CD8+ T cell immunity to lymphocytic choriomeningitis virus infection in decay-accelerating factor-deficient mice. (17709533)
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
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. (15565285)
2005
10
Restricted genetic defects underlie human complement C6 deficiency. (12653841)
2003
11
trans-Complementation rescue of cyclophilin A-deficient viruses reveals that the requirement for cyclophilin A in human immunodeficiency virus type 1 replication is independent of its isomerase activity. (11836403)
2002
12
The molecular basis of complete complement C4A and C4B deficiencies in a systemic lupus erythematosus patient with homozygous C4A and C4B mutant genes. (12133986)
2002
13
Complement deficiency. (11107496)
2000
14
Systemic lupus erythematosus, complement deficiency, and apoptosis. (11079100)
2000
15
Complement sensitivity of erythrocytes in a patient with inherited complete deficiency of CD59 or with the Inab phenotype. (10050712)
1999
16
Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency. (10344366)
1999
17
Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. (10323369)
1999
18
Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene. (9856483)
1998
19
Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency. (9703418)
1998
20
The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure. (9144525)
1997
21
Heterozygous C8beta complement deficiency does not predispose to meningococcal disease. (9182898)
1997
22
Targeted complementation of MHC class II deficiency by intrathymic delivery of recombinant adenoviruses. (9252125)
1997
23
Investigation of complement C4B deficiency in schizophrenia. (9358016)
1997
24
Complementation of Ah receptor deficiency in hepatoma cells: negative feedback regulation and cell cycle control by the Ah receptor. (8660951)
1996
25
Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components. (7762578)
1995
26
Inherited complement deficiency in children surviving fulminant meningococcal septic shock. (8582425)
1995
27
Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem. (7980680)
1994
28
Complete inherited deficiency of the fourth complement component in a child with systemic lupus erythematosus and his disease-free brother in a north African family. (7814456)
1994
29
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (Asp549 to Asn) impairs C3 secretion. (7961791)
1994
30
Complement deficiency states and meningococcal disease. (8288947)
1993
31
Deficiency of mannan-binding protein--a recently discovered complement defect syndrome]. (8421844)
1993
32
Meningococcal disease in patients with late complement component deficiency: studies in the U.S.S.R. (8231787)
1993
33
Complement factor I deficiency with recurrent aseptic meningitis. (8507128)
1993
34
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). (8402893)
1993
35
Cisplatin sensitivity/resistance in UV repair-deficient Chinese hamster ovary cells of complementation groups 1 and 3. (8222071)
1993
36
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. (1577763)
1992
37
Complement activation during bypass in acquired C1 esterase inhibitor deficiency. (1898144)
1991
38
Complement and immunoglobulin studies in 15 cases of chronic meningococcemia: properdin deficiency and hypoimmunoglobulinemia. (2320962)
1990
39
Factor I deficiency, a regulator protein of complement]. (2140162)
1990
40
Complement deficiency and the pathogenesis of autoimmune immune complex disease. (2140942)
1990
41
Complement deficiency and neutrophil dysfunction as risk factors for bacterial infection in newborns and the role of granulocyte transfusion in therapy. (2194267)
1990
42
Possible association of sudden infant death with partial complement C4 deficiency revealed by post-mortem DNA typing of HLA class II and III genes. (2612504)
1989
43
Membranoproliferative glomerulonephritis in a patient with congenital deficiency of the third component of complement: effect of treatment with plasma. (2719026)
1989
44
C3 receptors, complement deficiency and SLE. (6697070)
1984
45
Partial genetic deficiency of the C4 component of complement in discoid lupus erythematosus and urticaria/angioedema. (6643787)
1983
46
Biochemical characterization of propionyl CoA carboxylase deficiency: heterogeneity within a single genetic complementation group. (7092804)
1982
47
Bactericidal activity of serum for Klebsiella rhinoscleromatis: studies on serum from a patient with rhinoscleroma and sera deficient in antibody or complement. (6754946)
1982
48
Complement receptor (CR1) deficiency in erythrocytes from patients with systemic lupus erythematosus. (6978375)
1982
49
Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts. (6777600)
1980
50
Complement deficiency and chromosomalbreaks in a case of Swiss-type agammaglobulinaemia. (4170833)
1968

Genetic Variations for Complement Deficiency

About this section

Expression for genes affiliated with Complement Deficiency

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
29KEGG, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 55SinoBiological, 12EMD Millipore
See all sources

Pathways related to Complement Deficiency according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7C1R, MBL2, C3
2
Hide members
9.2C7, C5, C3
3
Hide members
9.0C5, CFP, C4A, C3, C2
4
Hide members
8.7C7, C3, C5, CFI, CFP
5
Hide members
8.4CFP, C7, C3, C5, CFI, C2
6
Hide members
8.3CR1, MBL2, C1S, C4A, C1R
7
Hide members
8.0C1R, C1S, MBL2, CR1, C2, C4A
88.0C1S, C4A, C4B, C2, C5, C3
9
Hide members
8.0C3, C4B, C1R, C1S, C4A, C5
10
Hide members
7.1C1R, C1S, MBL2, C4A, C2, C4B
116.9C1R, C3, C5, C5AR1, CFI, C2
12
Hide members
5.5CFI, C5AR1, C5, C3, C7, C2
13
Immune response Lectin induced complement pathway
Hide members
5.3C5AR1, C5, C3, C7, CFP, CFI

Compounds for genes affiliated with Complement Deficiency

About this section
Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR
See all sources

Compounds related to Complement Deficiency according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1compstatin control peptide5910.1C5AR1, C3
2ndt 95137275910.1C5AR1, C3
3compstatin5910.1C5AR1, C3
4endotoxin4410.0LIF, C4A, APOH
5Alpha-D-Mannose119.9APOH, MBL2, C1R
6Ibritumomab119.9C1R, C1S
7Muromonab119.9C1R, C1S
8basiliximab44 1110.8C1S, C1R
9gemtuzumab ozogamicin44 1110.7C1S, C1R
10etanercept44 49 1111.7C1R, C1S, APOH
11thromboxane a244 2410.6APOH, LIF, C5AR1
12kininogen449.6C1S, APOH, CFI
13rituximab44 49 1111.6APOH, C1S, C1R
14mannan449.6CFP, CR1, MBL2
15Intravenous Immunoglobulin119.5C4A, C4B, C5, C3
16nacl449.5MBL2, LIF, CFI, C5AR1
17carbohydrates449.5MBL2, C4B, CFI
18hind iii449.4CR1, C4A
19adalimumab44 49 1111.4C1S, C1R
20cholesterol44 28 11 2412.3MBL2, APOH, LIF, ROM1, CFI, C3
21serine449.2LIF, C2, LMNB2, C5AR1, C3
22polysaccharide449.1MBL2, CR1, LIF, CFP, C3
23steroid449.1MBL2, APOH, C4A, C4B, LIF, C3
24cysteine449.1MBL2, LIF, ROM1, CFP, C5AR1, C3
25creatinine449.0MBL2, APOH, LIF, CFI, C5AR1, C3
26txb2449.0C5AR1, LIF, C4A, APOH, C1S
27prednisolone44 28 1110.9MBL2, APOH, CR1, C5AR1
28methionine448.9C5, CFI, LIF, CR1
29ethanol44 49 11 2411.8MBL2, APOH, CR1, C5AR1
30lipid448.8MBL2, APOH, LIF, CFI, C5AR1, C3
31oxygen44 249.8MBL2, C4A, CR1, C5AR1, C3
32phospholipid448.8C3, C5AR1, CR1, APOH
33latex448.7C1S, MBL2, APOH, CR1, LIF
34arginine448.7C1S, APOH, C4A, LIF, C5AR1
35agarose448.7MBL2, APOH, C4A, C4B, LIF, C5AR1
36mannose448.5C1S, MBL2, APOH, CR1, CFP, C3
37fibrinogen448.5C1S, MBL2, APOH, LIF, CFI, C5AR1
38superoxide44 249.5MBL2, APOH, CR1, LIF, CFP, C5AR1
39anaphylatoxin448.4C3, C5, C5AR1, CFP, CR1, C4A
40phosphatidylinositol448.4APOH, CR1, LIF, C5AR1, C3
41nitric oxide44 11 2410.1C1S, MBL2, APOH, CR1, LIF, C5AR1
42heparin44 28 11 2410.7C1S, APOH, CR1, LIF, CFI, CFP
43calcium44 49 11 2410.2C1R, C1S, MBL2, APOH, C4B, CR1

GO Terms for genes affiliated with Complement Deficiency

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Complement Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane attack complexGO:0055799.1C5, C7
2cell surfaceGO:0099868.6C5AR1, CR1, APOH, MBL2
3extracellular spaceGO:0056157.5C3, MBL2, APOH, C4A, C4B, LIF
4extracellular regionGO:0055766.5C1R, C1S, MBL2, C4A, C4B, C2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phagocytosisGO:05076610.0C3, MBL2
2positive regulation vascular endothelial growth factor productionGO:0105759.7C3, C5
3cytolysisGO:0198359.1C7, C5
4complement activation, alternative pathwayGO:0069579.1CFP, C5, C3, C7
5immune responseGO:0069559.0C1R, LIF, CFP, C5AR1, C3
6inflammatory responseGO:0069548.7C4A, C4B, C5AR1, C5, C3
7complement activationGO:0069567.1C4A, C4B, C2, CFP, C5, C3
8regulation of complement activationGO:0304497.1C4A, C4B, CR1, C2, CFI, CFP
9complement activation, classical pathwayGO:0069586.2C1R, C1S, MBL2, C4A, C4B, CR1
10innate immune responseGO:0450876.0C7, C4A, C4B, CR1, C2, CFI

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.4CFI, C2, C1S
2receptor bindingGO:0051029.0MBL2, LIF, C5, C3
3endopeptidase inhibitor activityGO:0048669.0C3, C5, C4B, C4A

Products for genes affiliated with Complement Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Complement Deficiency

About this section
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