MCID: CMP009
MIFTS: 41

Complement Deficiency malady

Summaries for Complement Deficiency

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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 systemic lupus erythematosus and complement factor i deficiency. 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. Related mouse phenotypes are immune system and homeostasis/metabolism.

Wikipedia:64 Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the... more...

Aliases & Classifications for Complement Deficiency

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 57SNOMED-CT
See all sources

Aliases & Descriptions:

complement deficiency 8 10 45
complement deficiency disease 8 61


External Ids:

Disease Ontology8 DOID:626
SNOMED-CT57 191014008, 24743004
NCIt40 C4691

Related Diseases for Complement Deficiency

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 90)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus30.6C4A, CR1
2complement factor i deficiency30.1CFI
3protein s deficiency30.1APOH
4meningococcal meningitis30.1MBL2, CFP
5nephritis30.0C4A, CR1, LIF, CFI, CFP, C3
6bacterial meningitis29.8C5AR1, CFP, CR1
7arthritis29.8C3, C5AR1, LIF, CR1
8septic shock29.8C1S, MBL2, CR1, LIF, CFP, C5AR1
9complement factor d deficiency10.3
10meningococcal infection10.2
11complement component 5 deficiency10.1
12protein c deficiency10.1
13complement component deficiency10.1
14meningococcemia10.1
15complement component 4, partial deficiency of10.1
16hemolytic-uremic syndrome10.0CFI
17dermatitis10.0LIF
18atypical hemolytic-uremic syndrome10.0CFI
19endometriosis10.0LIF
20afibrinogenemia10.0CFI
21infertility10.0LIF
22nephrotic syndrome10.0CFI
23thrombocytopenia10.0APOH
24diabetes mellitus10.0C3, CFP
25age related macular degeneration10.0C3, C2
26hepatitis10.0CR1
27capillary leak syndrome10.0C1S
28myocardial infarction10.0C1S
29acute poststreptococcal glomerulonephritis10.0CFP
30sarcoidosis10.0CR1
31mesangial proliferative glomerulonephritis10.0MBL2, LIF
32antiphospholipid syndrome10.0APOH
33immunoglobulin alpha deficiency10.0MBL2, C4A
34sepsis10.0CFI, CFP
35membranoproliferative glomerulonephritis10.0C3, CFP, MBL2
36c7 deficiency10.0C7
37meningitis10.0MBL2, CFI, CFP
38hepatitis b10.0CR1, MBL2
39collagen disease10.0MBL2, APOH
40angioedema10.0C1R, C1S
41deficiency anemia10.0CR1, LIF
42uremia10.0CR1
43retinal artery occlusion10.0APOH
44neisseria meningitidis infection10.0MBL2, ROM1, CFP, C3
45adult respiratory distress syndrome10.0C5AR1
46stomach cancer10.0LIF, MBL2
47iga glomerulonephritis10.0C3, CFP, C4A, MBL2
48sudden infant death syndrome10.0C4A, C4B
49cystic fibrosis10.0MBL2, CR1
50malaria10.0CFP, LIF, CR1

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



Diseases related to complement deficiency

Clinical Features for Complement Deficiency

Drugs & Therapeutics for Complement Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Complement Deficiency

Animal Models for Complement Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Complement Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.8C4B, LIF, LMNB2, CFP, C5AR1, C5
2MP:00053766.9C3, MBL2, APOH, C4B, LIF, LMNB2

Publications for Complement Deficiency

Sources:
51PubMed
See all sources

Articles related to Complement Deficiency:

(show top 50)    (show all 377)
idTitleAuthorsYear
1
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome. (23243267)
2013
2
C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review. (23371790)
2013
3
Complement factor H deficiency accelerates development of lupus nephritis. (21148254)
2011
4
Murine complement deficiency ameliorates acute cigarette smoke-induced nasal damage. (20620635)
2010
5
Genetic deficiency of complement isoforms C4A or C4B predicts improved survival of metastatic renal cell carcinoma. (19150565)
2009
6
Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene. (18062908)
2008
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
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. (15488949)
2005
10
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. (15565285)
2005
11
Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15. (15685522)
2005
12
Molecular basis for complement component 6 (C6) deficiency in rats and mice. (15568620)
2004
13
Infectious delivery of a 135-kb LDLR genomic locus leads to regulated complementation of low-density lipoprotein receptor deficiency in human cells. (12718903)
2003
14
Rheumatic syndromes associated with complement deficiency. (12496511)
2003
15
Functional homology between yeast piD261/Bud32 and human PRPK: both phosphorylate p53 and PRPK partially complements piD261/Bud32 deficiency. (12914926)
2003
16
Familial hemolytic uremic syndrome associated with complement factor H deficiency. (11241053)
2001
17
Complement factor I deficiency associated with recurrent meningitis coinciding with menstruation. (11709004)
2001
18
IgA nephropathy with complement deficiency. (11201372)
2001
19
Apoptosis and autoimmunity: complement deficiency and systemic lupus erythematosus revisited. (11123037)
2000
20
Pyoderma gangrenosum in a patient with autoimmune haemolytic anaemia and complement deficiency. (10886151)
2000
21
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. (10393702)
1999
22
C1q knock-out mice for the study of complement deficiency in autoimmune disease. (10072632)
1998
23
Molecular defects leading to human complement component C6 deficiency in an African-American family. (9472666)
1998
24
Complement factor I deficiency in a family with recurrent infections. (9476132)
1997
25
Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem. (7980680)
1994
26
Killing of meningococci by neutrophils: effect of vaccination on patients with complement deficiency. (8035035)
1994
27
Non-coordinated biosynthesis of early complement components in a deficiency of complement proteins C1r and C1s. (7939409)
1994
28
Specific thiol compounds complement deficiency in c-type cytochrome biogenesis in Escherichia coli carrying a mutation in a membrane-bound disulphide isomerase-like protein. (7957865)
1994
29
Complement C3 deficiency: human, animal, and experimental models. (8031472)
1994
30
Elevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosis. (8348751)
1993
31
Complement factor I deficiency with recurrent aseptic meningitis. (8507128)
1993
32
Killing of rat glial cells by complement: deficiency of the rat analogue of CD59 is the cause of oligodendrocyte susceptibility to lysis. (7693753)
1993
33
The Roche Rheumatology Prize Lecture. Complement deficiency and disease. (8461918)
1993
34
Prenatal diagnosis of 21-hydroxylase deficiency by RFLP analysis of the 21-hydroxylase, complement C4, and HLA class II genes. (1684434)
1991
35
Deficiency of mannan binding protein--a new complement deficiency syndrome. (1934604)
1991
36
Deficiency of complement decay-accelerating factor (DAF, CD55) in non-Hodgkin's lymphoma. (1722775)
1991
37
Complement and immunoglobulin studies in 15 cases of chronic meningococcemia: properdin deficiency and hypoimmunoglobulinemia. (2320962)
1990
38
Prevalence of homozygous C4B deficiency in patients with deficiencies of terminal complement components and meningococcemia. (2230255)
1990
39
Nephrosis, peritonitis and complement deficiency. (2242328)
1990
40
Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus. (1976809)
1990
41
Analysis of PI (phosphatidylinositol)-anchoring antigens in a patient of paroxysmal nocturnal hemoglobinuria (PNH) reveals deficiency of 1F5 antigen (CD59), a new complement-regulatory factor. (1689670)
1990
42
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. (3384945)
1988
43
Meningococcemia and acquired complement deficiency. Association in patients with hepatic failure. (3729633)
1986
44
Terminal complement component deficiencies and rheumatic disease: development of a rheumatic syndrome and anticomplementary activity in a patient with complete C6 deficiency. (3931570)
1985
45
Use of a cDNA clone for the fourth component of human complement (C4) for analysis of a genetic deficiency of C4 in guinea pig. (6577433)
1983
46
Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency. (7076257)
1982
47
Meningococcal meningitis in familial deficiency of the fifth component of complement. (6785713)
1981
48
Human deficiency of the sixth component of complement in a patient with meningococcal meningitis and no haemostasis abnormality. (6783144)
1980
49
Recurrent meningococcal infections associated with a functional deficiency of the C8 component of human complement. (6771072)
1980
50
Branched-chain aminotransferase deficiency in Chinese hamster cells complemented by two independent genes on human chromosomes 12 and 19. (6933702)
1980

Genetic Variations for Complement Deficiency

Expression for genes affiliated with Complement Deficiency

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

Sources:
30KEGG, 54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 56SinoBiological, 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

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR
See all sources

Compounds related to Complement Deficiency according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1compstatin control peptide6010.1C5AR1, C3
2ndt 95137276010.1C5AR1, C3
3compstatin6010.1C5AR1, C3
4endotoxin4510.0LIF, C4A, APOH
5Alpha-D-Mannose119.9APOH, MBL2, C1R
6Ibritumomab119.9C1R, C1S
7Muromonab119.9C1R, C1S
8basiliximab45 1110.8C1S, C1R
9gemtuzumab ozogamicin45 1110.7C1S, C1R
10etanercept45 50 1111.7C1R, C1S, APOH
11thromboxane a245 2410.6APOH, LIF, C5AR1
12kininogen459.6C1S, APOH, CFI
13rituximab45 50 1111.6APOH, C1S, C1R
14mannan459.6CFP, CR1, MBL2
15Intravenous Immunoglobulin119.5C4A, C4B, C5, C3
16nacl459.5MBL2, LIF, CFI, C5AR1
17carbohydrates459.5MBL2, C4B, CFI
18hind iii459.4CR1, C4A
19adalimumab45 50 1111.4C1S, C1R
20cholesterol45 29 11 2412.3MBL2, APOH, LIF, ROM1, CFI, C3
21serine459.2LIF, C2, LMNB2, C5AR1, C3
22polysaccharide459.1MBL2, CR1, LIF, CFP, C3
23steroid459.1MBL2, APOH, C4A, C4B, LIF, C3
24cysteine459.1MBL2, LIF, ROM1, CFP, C5AR1, C3
25creatinine459.0MBL2, APOH, LIF, CFI, C5AR1, C3
26txb2459.0C5AR1, LIF, C4A, APOH, C1S
27prednisolone45 29 1110.9MBL2, APOH, CR1, C5AR1
28methionine458.9C5, CFI, LIF, CR1
29ethanol45 50 11 2411.8MBL2, APOH, CR1, C5AR1
30lipid458.8MBL2, APOH, LIF, CFI, C5AR1, C3
31oxygen45 249.8MBL2, C4A, CR1, C5AR1, C3
32phospholipid458.8C3, C5AR1, CR1, APOH
33latex458.7C1S, MBL2, APOH, CR1, LIF
34arginine458.7C1S, APOH, C4A, LIF, C5AR1
35agarose458.7MBL2, APOH, C4A, C4B, LIF, C5AR1
36mannose458.5C1S, MBL2, APOH, CR1, CFP, C3
37fibrinogen458.5C1S, MBL2, APOH, LIF, CFI, C5AR1
38superoxide45 249.5MBL2, APOH, CR1, LIF, CFP, C5AR1
39anaphylatoxin458.4C3, C5, C5AR1, CFP, CR1, C4A
40phosphatidylinositol458.4APOH, CR1, LIF, C5AR1, C3
41nitric oxide45 11 2410.1C1S, MBL2, APOH, CR1, LIF, C5AR1
42heparin45 29 11 2410.7C1S, APOH, CR1, LIF, CFI, CFP
43calcium45 50 11 2410.2C1R, C1S, MBL2, APOH, C4B, CR1

GO Terms for genes affiliated with Complement Deficiency

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Complement Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet