MCID: CMP064
MIFTS: 34

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 71

Classifications:



External Ids:

Disease Ontology 12 DOID:8354
NCIt 49 C9468
SNOMED-CT 67 771443008
UMLS 71 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 Creation of C4 and C2 activators. Affiliated tissues include t cells, skin and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 74 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 104)
# Related Disease Score Top Affiliating Genes
1 complement factor i deficiency 30.7 CR1 CFP CFI C4B C4A C3
2 neisseria meningitidis infection 29.9 MBL2 CFP CD46 C3
3 membranoproliferative glomerulonephritis 29.7 CFP CFHR2 CD46 C4A C3
4 proliferative glomerulonephritis 29.6 CR1 CFHR2 CD55 C3
5 genetic atypical hemolytic-uremic syndrome 29.4 CFI CD46 C3
6 vasculitis 29.4 MBL2 C3 C1S
7 immune-complex glomerulonephritis 29.3 CFI CFHR2 C4B
8 end stage renal disease 29.2 CFI CD46 C3
9 lyme disease 29.1 CFI CFHR2 C4A C3
10 iga glomerulonephritis 29.0 MBL2 MASP1 CFP CFHR2 C3
11 meningitis 29.0 MBL2 CFP CFI CD55 CD46 C3
12 lupus erythematosus 28.7 CR1 C4B C4A C3 C1S C1R
13 hemoglobinuria 28.3 CR1 CFI CD59 CD55 C3
14 paroxysmal nocturnal hemoglobinuria 28.3 CR1 CFI CD59 CD55 C3
15 glomerulonephritis 26.8 MBL2 MASP1 CR1 CFP CFI CD55
16 complement deficiency 26.7 MBL2 CFP CFI CFHR2 CD59 CD55
17 complement component 5 deficiency 26.7 CR1 CFP CFHR2 CD55 CD46 C5AR2
18 systemic lupus erythematosus 26.2 MBL2 CR1 CFI CFHR2 CD55 CD46
19 complement component 3 deficiency, autosomal recessive 13.0
20 dense deposit disease 10.4 CFHR2 C3
21 louse-borne relapsing fever 10.4 C4B C3
22 anti-basement membrane glomerulonephritis 10.3 CFP CFHR2
23 juvenile dermatitis herpetiformis 10.3 C4B C4A
24 relapsing fever 10.3 CFHR2 C4B C3
25 acquired angioedema 10.3 C3 C1S
26 acute poststreptococcal glomerulonephritis 10.3 CFP CFHR2 C3
27 systemic lupus erythematosus 16 10.3 C4A C1R
28 meningococcemia 10.2 MBL2 CFP
29 periodontal ehlers-danlos syndrome 10.2 C1S C1R
30 bacterial infectious disease 10.2
31 pediatric systemic lupus erythematosus 10.2 C4B C4A C3
32 ehlers-danlos syndrome, periodontal type, 2 10.2 C1S C1R
33 ehlers-danlos syndrome, periodontal type, 1 10.2 C1S C1R
34 monkeypox 10.2 CD55 C4B
35 blood protein disease 10.2 CFHR2 C4B C4A
36 mannose-binding lectin deficiency 10.2 MBL2 CFP C5AR1
37 acute proliferative glomerulonephritis 10.2 C5AR1 C3
38 congenital intrinsic factor deficiency 10.1 C1S C1R
39 c1 inhibitor deficiency 10.1 C1S C1R
40 capillary leak syndrome 10.1 C4A C3 C1S
41 arthus reaction 10.1 CR1 CD46 C5AR1
42 primary cutaneous b-cell lymphoma 10.1 CD59 CD55
43 tick-borne relapsing fever 10.1 CFHR2 C4B C4A C3
44 mollaret meningitis 10.1
45 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.1 CD59 CD55
46 gingival recession 10.1 C1S C1R
47 scabies 10.1 MBL2 CFP
48 angioedema 10.0 C4A C1S C1R
49 t-cell/histiocyte rich large b cell lymphoma 10.0 VSIG4 CR1
50 diffuse glomerulonephritis 10.0 MASP1 CFP 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

GenomeRNAi Phenotypes related to Complement Component 3 Deficiency according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.05 CD59
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.05 C4A C4B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.05 CD59
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.05 CD59
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.05 CD59
6 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.05 CD59
7 Increased shRNA abundance (Z-score > 2) GR00366-A-150 10.05 CD59
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.05 CD59
9 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.05 CD59
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.05 C4A C4B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.05 CD59
12 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.05 CD59
13 Increased shRNA abundance (Z-score > 2) GR00366-A-191 10.05 CD59
14 Increased shRNA abundance (Z-score > 2) GR00366-A-28 10.05 CD59
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.05 CD59
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.05 C4A C4B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.05 C4A C4B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.05 CD59
19 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.05 C4A C4B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.05 CD59
21 Reduced mammosphere formation GR00396-S 9.1 C3 C4A C5AR1 C5AR2 CD59 VSIG4

MGI Mouse Phenotypes related to Complement Component 3 Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 C3 C3AR1 C4B CD55 CD59 CFI

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:

40
T Cells, Skin, Brain, Liver, Spinal Cord, Kidney, Neutrophil

Publications for Complement Component 3 Deficiency

Articles related to Complement Component 3 Deficiency:

(show top 50) (show all 160)
# Title Authors PMID Year
1
Complement component 3 prevents imiquimod-induced psoriatic skin inflammation by inhibiting apoptosis in mice. 61
32535539 2020
2
IgE Contributes to Atherosclerosis and Obesity by Affecting Macrophage Polarization, Macrophage Protein Network, and Foam Cell Formation. 61
31996021 2020
3
Successful simultaneous liver-kidney transplantation for renal failure associated with hereditary complement C3 deficiency. 61
31970896 2020
4
Complement C3 activation regulates the production of tRNA-derived fragments Gly-tRFs and promotes alcohol-induced liver injury and steatosis. 61
31076642 2019
5
Safety profile after prolonged C3 inhibition. 61
30217791 2018
6
Complement Component C3 Promotes Cerebral Ischemia/Reperfusion Injury Mediated by TLR2/NFκB Activation in Diabetic Mice. 61
29948726 2018
7
C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism. 61
29724957 2018
8
IgG is elevated in obese white adipose tissue but does not induce glucose intolerance via Fcγ-receptor or complement. 61
28852207 2018
9
Reduced bone loss in a murine model of postmenopausal osteoporosis lacking complement component 3. 61
28667799 2018
10
Complement C3 Affects Rac1 Activity in the Developing Brain. 61
29867343 2018
11
Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3. 61
30443255 2018
12
Complement Dependence of Murine Costimulatory Blockade-Resistant Cellular Cardiac Allograft Rejection. 61
28444847 2017
13
Interaction of extremophilic archaeal viruses with human and mouse complement system and viral biodistribution in mice. 61
28846925 2017
14
Hereditary Homozygous C3 Deficiency. 61
28435995 2017
15
Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. 61
28566429 2017
16
Early immune responses are independent of RGC dysfunction in glaucoma with complement component C3 being protective. 61
28446616 2017
17
Distinct contributions of complement factors to platelet activation and fibrin formation in venous thrombus development. 61
28223279 2017
18
NLRP3 is Required for Complement-Mediated Caspase-1 and IL-1beta Activation in ICH. 61
27933491 2017
19
Complement component 3 deficiency prolongs MHC-II disparate skin allograft survival by increasing the CD4(+) CD25(+) regulatory T cells population. 61
27641978 2016
20
Complement and Antibody-mediated Enhancement of Red Blood Cell Invasion and Growth of Malaria Parasites. 61
27333049 2016
21
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency. 61
26847111 2016
22
C3 deficiency ameliorates the negative effects of irradiation of the young brain on hippocampal development and learning. 61
27029069 2016
23
Deficiency of the Complement Component 3 but Not Factor B Aggravates Staphylococcus aureus Septic Arthritis in Mice. 61
26787717 2016
24
Efficacy of Targeted Complement Inhibition in Experimental C3 Glomerulopathy. 61
26047789 2016
25
Clinical characteristics and genotype-phenotype correlations in C3 deficiency. 61
26435005 2016
26
Modulation of post-stroke degenerative and regenerative processes and subacute protection by site-targeted inhibition of the alternative pathway of complement. 61
26714866 2015
27
Dysregulation of adaptive immune responses in complement C3-deficient patients. 61
25446578 2015
28
Complement deficiency promotes cutaneous wound healing in mice. 61
25548229 2015
29
rs2230201 polymorphism may dictate complement C3 levels and response to treatment in chronic hepatitis C patients. 61
24995942 2015
30
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. 61
25559179 2015
31
Association of anti-acidic ribosomal protein P0 and anti-galectin 3 antibodies with the development of skin lesions in systemic lupus erythematosus. 61
25307291 2015
32
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. 61
23963626 2014
33
Complement component 3 is necessary to preserve myocardium and myocardial function in chronic myocardial infarction. 61
24806427 2014
34
Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. 61
24321396 2014
35
C3 opsonization regulates endocytic handling of apoptotic cells resulting in enhanced T-cell responses to cargo-derived antigens. 61
24474777 2014
36
Early onset and enhanced growth of autochthonous mammary carcinomas in C3-deficient Her2/neu transgenic mice. 61
24228231 2013
37
Impaired intestinal tolerance in the absence of a functional complement system. 61
23098807 2013
38
Expressions of C5a and its receptor CD88 after spinal cord injury in C3-deficient mice. 61
23033813 2013
39
Complement mediated signaling on pulmonary CD103(+) dendritic cells is critical for their migratory function in response to influenza infection. 61
23326231 2013
40
Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. 61
23117396 2012
41
Rheumatoid factor-positive synovitis in a patient with C3 deficiency. 61
23043374 2012
42
Kidney injury accelerates cystogenesis via pathways modulated by heme oxygenase and complement. 61
22518005 2012
43
The effect of anti-Anisakis simplex antibody levels on C3 and C4 complement components in human sera. 61
21729389 2012
44
Genetic Deficiency of Complement Component 3 Does Not Alter Disease Progression in a Mouse Model of Huntington's Disease. 61
23097680 2012
45
The protective role of CD59 and pathogenic role of complement in hepatic ischemia and reperfusion injury. 61
22019898 2011
46
A protective role of complement component 3 in T cell-mediated skin inflammation. 61
21569105 2011
47
A novel mutation in the C3 gene and recurrent invasive pneumococcal infection: a clue for vaccine development. 61
21676463 2011
48
Complement C3 deficiency prevent against the onset of streptozotocin-induced autoimmune diabetes involving expansion of regulatory T cells. 61
21767994 2011
49
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. 61
21501302 2011
50
Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. 61
22194859 2011

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 MBL2 MASP1 CR1 CFP CFI CD59
2
Show member pathways
12.19 MBL2 MASP1 CR1 CFI CD59 CD55
3
Show member pathways
12.06 MBL2 MASP1 CR1 CFP CFI CD59
4 11.94 MBL2 MASP1 CFI C5AR1 C4B C4A
5
Show member pathways
11.88 MBL2 MASP1 CFP CD55 C4B C4A
6 11.81 MBL2 C3 C1R
7 11.69 VSIG4 MBL2 MASP1 CR1 CFI CFHR2
8 11.68 C4B C4A C3 C1S C1R
9 11.6 CR1 CD59 CD55

GO Terms for Complement Component 3 Deficiency

Cellular components related to Complement Component 3 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 CR1 CFI CD59 CD55 CD46 C4B
2 extracellular space GO:0005615 9.85 MBL2 MASP1 CFP CFI CD59 C4B
3 cell surface GO:0009986 9.8 MBL2 CR1 CD59 CD55 CD46 C5AR1
4 secretory granule membrane GO:0030667 9.54 CR1 CD55 C5AR1
5 extracellular region GO:0005576 9.4 MBL2 MASP1 CFP CFI CFHR2 CD59
6 blood microparticle GO:0072562 9.35 C4B C4A C3 C1S C1R

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.1 VSIG4 MBL2 MASP1 CR1 CFP CFI
2 neutrophil degranulation GO:0043312 9.98 CR1 CFP CD59 CD55 C5AR1 C3AR1
3 inflammatory response GO:0006954 9.95 C5AR2 C5AR1 C4B C4A C3AR1 C3
4 complement activation GO:0006956 9.86 MBL2 MASP1 CFP C4B C4A C3
5 complement activation, classical pathway GO:0006958 9.85 MBL2 CR1 CFI CD55 CD46 C4B
6 positive regulation of cytosolic calcium ion concentration GO:0007204 9.84 CD55 C5AR2 C5AR1 C3AR1
7 negative regulation of endopeptidase activity GO:0010951 9.79 C4B C4A C3
8 positive regulation of angiogenesis GO:0045766 9.79 C5AR1 C3AR1 C3
9 innate immune response GO:0045087 9.77 VSIG4 MBL2 MASP1 CR1 CFP CFI
10 viral entry into host cell GO:0046718 9.76 CR1 CD55 CD46
11 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.73 C5AR2 C5AR1 C3AR1
12 positive regulation of vascular endothelial growth factor production GO:0010575 9.69 C5AR1 C3AR1 C3
13 complement receptor mediated signaling pathway GO:0002430 9.67 CR1 C5AR2 C5AR1 C3AR1
14 complement activation, alternative pathway GO:0006957 9.63 VSIG4 CFP C3
15 positive regulation of neutrophil chemotaxis GO:0090023 9.61 C5AR1 C3AR1
16 positive regulation of macrophage chemotaxis GO:0010759 9.6 C5AR1 C3AR1
17 amyloid-beta clearance GO:0097242 9.59 C5AR1 C3
18 complement activation, lectin pathway GO:0001867 9.58 MBL2 MASP1
19 positive regulation of apoptotic cell clearance GO:2000427 9.58 C4B C4A C3
20 opsonization GO:0008228 9.57 MBL2 C4B
21 regulation of complement-dependent cytotoxicity GO:1903659 9.55 CD59 CD55
22 negative regulation of complement activation, alternative pathway GO:0045957 9.52 VSIG4 CR1
23 regulation of complement activation GO:0030449 9.5 CR1 CFP CFI CFHR2 CD59 CD55
24 complement component C5a signaling pathway GO:0038178 9.49 C5AR2 C5AR1

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 9.62 MASP1 CFI C1S C1R
2 virus receptor activity GO:0001618 9.61 CR1 CD55 CD46
3 serine-type peptidase activity GO:0008236 9.46 MASP1 CFI C1S C1R
4 endopeptidase inhibitor activity GO:0004866 9.43 C4B C4A C3
5 complement binding GO:0001848 9.4 CD59 C4B
6 complement component C3b binding GO:0001851 9.37 VSIG4 CR1
7 complement component C5a receptor activity GO:0004878 8.96 C5AR2 C5AR1
8 complement receptor activity GO:0004875 8.8 C5AR2 C5AR1 C3AR1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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