MCID: CMP064
MIFTS: 30

Complement Component 3 Deficiency

Categories: Immune diseases

Aliases & Classifications for Complement Component 3 Deficiency

MalaCards integrated aliases for Complement Component 3 Deficiency:

Name: Complement Component 3 Deficiency 12 15
C3 Deficiency 12 72

Classifications:



External Ids:

Disease Ontology 12 DOID:8354
NCIt 50 C9468
UMLS 72 C1332655

Summaries for Complement Component 3 Deficiency

Disease Ontology : 12 A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has material basis in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has symptom recurrent bacterial infections.

MalaCards based summary : Complement Component 3 Deficiency, also known as c3 deficiency, is related to complement factor i deficiency and neisseria meningitidis infection, and has symptoms including recurrent bacterial infections An important gene associated with Complement Component 3 Deficiency is C3 (Complement C3), and among its related pathways/superpathways are Innate Immune System and Complement and coagulation cascades. Affiliated tissues include t cells, skin and brain.

Wikipedia : 75 Complement component 3, often simply called C3, is a protein of the immune system. It plays a central... more...

Related Diseases for Complement Component 3 Deficiency

Diseases related to Complement Component 3 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 complement factor i deficiency 31.1 CFP CFI C3
2 neisseria meningitidis infection 29.9 CFP C3
3 membranoproliferative glomerulonephritis 29.7 CFP C3
4 complement deficiency 29.6 CFP C3 C2
5 glomerulonephritis 29.2 CFP CFI C3
6 complement component 3 deficiency, autosomal recessive 12.9
7 bacterial infectious disease 10.2
8 meningitis 10.1
9 c3 glomerulopathy 10.1 CFP C3
10 mollaret meningitis 10.1
11 retinal drusen 10.1 C3 C2
12 pneumococcal meningitis 9.9
13 atherosclerosis susceptibility 9.8
14 multiple sclerosis 9.8
15 systemic lupus erythematosus 9.8
16 otitis media 9.8
17 pulmonary hypertension, primary, 1 9.8
18 complement component 5 deficiency 9.8
19 mucopolysaccharidosis-plus syndrome 9.8
20 deficiency anemia 9.8
21 pulmonary hypertension 9.8
22 exanthem 9.8
23 paroxysmal nocturnal hemoglobinuria 9.8
24 bone disease 9.8
25 aortic atherosclerosis 9.8
26 tonsillitis 9.8
27 pertussis 9.8
28 lyme disease 9.8
29 iron deficiency anemia 9.8
30 iron metabolism disease 9.8
31 synovitis 9.8
32 iga glomerulonephritis 9.8
33 immune-complex glomerulonephritis 9.8
34 liver cirrhosis 9.8
35 pneumonia 9.8
36 hemoglobinuria 9.8
37 vasculitis 9.8
38 lupus erythematosus 9.8
39 genetic atypical hemolytic-uremic syndrome 9.8
40 haemophilus influenzae 9.8
41 raynaud phenomenon 9.8
42 complement component 8 deficiency 9.8
43 hypoxia 9.8
44 spinal cord injury 9.8
45 rapidly involuting congenital hemangioma 9.8
46 enterocolitis 9.7 CFI C3
47 degeneration of macula and posterior pole 9.7 CFI C3
48 afibrinogenemia, congenital 9.5 CFI C3
49 afibrinogenemia 9.4 CFP CFI C3
50 hemolytic uremic syndrome, atypical 1 9.3 CFP CFI C3

Graphical network of the top 20 diseases related to Complement Component 3 Deficiency:



Diseases related to Complement Component 3 Deficiency

Symptoms & Phenotypes for Complement Component 3 Deficiency

Symptoms:

12
  • recurrent bacterial infections

Drugs & Therapeutics for Complement Component 3 Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Component 3 Deficiency

Genetic Tests for Complement Component 3 Deficiency

Anatomical Context for Complement Component 3 Deficiency

MalaCards organs/tissues related to Complement Component 3 Deficiency:

41
T Cells, Skin, Brain, Liver, Spinal Cord, Neutrophil, Bone

Publications for Complement Component 3 Deficiency

Articles related to Complement Component 3 Deficiency:

(show top 50) (show all 157)
# Title Authors PMID Year
1
Complement C3 activation regulates the production of tRNA-derived fragments Gly-tRFs and promotes alcohol-induced liver injury and steatosis. 38
31076642 2019
2
Safety profile after prolonged C3 inhibition. 38
30217791 2018
3
Complement Component C3 Promotes Cerebral Ischemia/Reperfusion Injury Mediated by TLR2/NFκB Activation in Diabetic Mice. 38
29948726 2018
4
C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism. 38
29724957 2018
5
IgG is elevated in obese white adipose tissue but does not induce glucose intolerance via Fcγ-receptor or complement. 38
28852207 2018
6
Reduced bone loss in a murine model of postmenopausal osteoporosis lacking complement component 3. 38
28667799 2018
7
Complement C3 Affects Rac1 Activity in the Developing Brain. 38
29867343 2018
8
Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3. 38
30443255 2018
9
Complement Dependence of Murine Costimulatory Blockade-Resistant Cellular Cardiac Allograft Rejection. 38
28444847 2017
10
Interaction of extremophilic archaeal viruses with human and mouse complement system and viral biodistribution in mice. 38
28846925 2017
11
Hereditary Homozygous C3 Deficiency. 38
28435995 2017
12
Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. 38
28566429 2017
13
Early immune responses are independent of RGC dysfunction in glaucoma with complement component C3 being protective. 38
28446616 2017
14
Distinct contributions of complement factors to platelet activation and fibrin formation in venous thrombus development. 38
28223279 2017
15
NLRP3 is Required for Complement-Mediated Caspase-1 and IL-1beta Activation in ICH. 38
27933491 2017
16
Complement component 3 deficiency prolongs MHC-II disparate skin allograft survival by increasing the CD4(+) CD25(+) regulatory T cells population. 38
27641978 2016
17
Complement and Antibody-mediated Enhancement of Red Blood Cell Invasion and Growth of Malaria Parasites. 38
27333049 2016
18
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency. 38
26847111 2016
19
C3 deficiency ameliorates the negative effects of irradiation of the young brain on hippocampal development and learning. 38
27029069 2016
20
Deficiency of the Complement Component 3 but Not Factor B Aggravates Staphylococcus aureus Septic Arthritis in Mice. 38
26787717 2016
21
Efficacy of Targeted Complement Inhibition in Experimental C3 Glomerulopathy. 38
26047789 2016
22
Clinical characteristics and genotype-phenotype correlations in C3 deficiency. 38
26435005 2016
23
Modulation of post-stroke degenerative and regenerative processes and subacute protection by site-targeted inhibition of the alternative pathway of complement. 38
26714866 2015
24
Dysregulation of adaptive immune responses in complement C3-deficient patients. 38
25446578 2015
25
Complement deficiency promotes cutaneous wound healing in mice. 38
25548229 2015
26
rs2230201 polymorphism may dictate complement C3 levels and response to treatment in chronic hepatitis C patients. 38
24995942 2015
27
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. 38
25559179 2015
28
Association of anti-acidic ribosomal protein P0 and anti-galectin 3 antibodies with the development of skin lesions in systemic lupus erythematosus. 38
25307291 2015
29
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. 38
23963626 2014
30
Complement component 3 is necessary to preserve myocardium and myocardial function in chronic myocardial infarction. 38
24806427 2014
31
Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. 38
24321396 2014
32
C3 opsonization regulates endocytic handling of apoptotic cells resulting in enhanced T-cell responses to cargo-derived antigens. 38
24474777 2014
33
Early onset and enhanced growth of autochthonous mammary carcinomas in C3-deficient Her2/neu transgenic mice. 38
24228231 2013
34
Expressions of C5a and its receptor CD88 after spinal cord injury in C3-deficient mice. 38
23033813 2013
35
Impaired intestinal tolerance in the absence of a functional complement system. 38
23098807 2013
36
Complement mediated signaling on pulmonary CD103(+) dendritic cells is critical for their migratory function in response to influenza infection. 38
23326231 2013
37
Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. 38
23117396 2012
38
Rheumatoid factor-positive synovitis in a patient with C3 deficiency. 38
23043374 2012
39
Kidney injury accelerates cystogenesis via pathways modulated by heme oxygenase and complement. 38
22518005 2012
40
The effect of anti-Anisakis simplex antibody levels on C3 and C4 complement components in human sera. 38
21729389 2012
41
Genetic Deficiency of Complement Component 3 Does Not Alter Disease Progression in a Mouse Model of Huntington's Disease. 38
23097680 2012
42
The protective role of CD59 and pathogenic role of complement in hepatic ischemia and reperfusion injury. 38
22019898 2011
43
A protective role of complement component 3 in T cell-mediated skin inflammation. 38
21569105 2011
44
A novel mutation in the C3 gene and recurrent invasive pneumococcal infection: a clue for vaccine development. 38
21676463 2011
45
Complement C3 deficiency prevent against the onset of streptozotocin-induced autoimmune diabetes involving expansion of regulatory T cells. 38
21767994 2011
46
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. 38
21501302 2011
47
Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. 38
22194859 2011
48
Experimental models of membranoproliferative glomerulonephritis, including dense deposit disease. 38
21252520 2011
49
Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. 38
20800648 2010
50
Treatment with human complement factor H rapidly reverses renal complement deposition in factor H-deficient mice. 38
20445496 2010

Variations for Complement Component 3 Deficiency

Expression for Complement Component 3 Deficiency

Search GEO for disease gene expression data for Complement Component 3 Deficiency.

Pathways for Complement Component 3 Deficiency

GO Terms for Complement Component 3 Deficiency

Biological processes related to Complement Component 3 Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.69 CFP C3AR1 C3
2 inflammatory response GO:0006954 9.67 C5AR2 C3AR1 C3
3 innate immune response GO:0045087 9.67 CFP CFI C3 C2
4 complement activation, classical pathway GO:0006958 9.58 CFI C3 C2
5 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.48 C5AR2 C3AR1
6 positive regulation of vascular endothelial growth factor production GO:0010575 9.46 C3AR1 C3
7 proteolysis GO:0006508 9.43 CFI C2
8 complement activation GO:0006956 9.33 CFP C3 C2
9 complement receptor mediated signaling pathway GO:0002430 9.32 C5AR2 C3AR1
10 complement activation, alternative pathway GO:0006957 9.26 CFP C3
11 regulation of complement activation GO:0030449 9.1 CFP CFI C5AR2 C3AR1 C3 C2
12 positive regulation of apoptotic cell clearance GO:2000427 8.96 C3 C2

Molecular functions related to Complement Component 3 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.62 CFI C2

Sources for Complement Component 3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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