MCID: CMP064
MIFTS: 35

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 50 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 bacterial infectious disease, 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 Viral mRNA Translation. Affiliated tissues include t cells, skin and spinal cord, and related phenotypes are Decreased viability and Decreased viability

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 114)
# Related Disease Score Top Affiliating Genes
1 complement factor i deficiency 31.3 CR1 CFP C4B C4A C3
2 bacterial infectious disease 30.3 MBL2 CFP CFHR2 C4A
3 meningitis 30.0 MBL2 CFP CD55 CD46 C3
4 neisseria meningitidis infection 29.9 MBL2 CFP CD46 C3
5 vasculitis 29.8 MBL2 C3 C1S
6 genetic atypical hemolytic-uremic syndrome 29.8 CFH CD46 C3
7 lyme disease 29.5 CFHR2 CFH C4A C3
8 membranoproliferative glomerulonephritis 29.4 CFP CFHR2 CFH CD46 C4A C3
9 hemoglobinuria 29.1 CR1 CD59 CD55 C3
10 paroxysmal nocturnal hemoglobinuria 29.1 CR1 CD59 CD55 C3
11 proliferative glomerulonephritis 29.1 CR1 CFH CD55 C3
12 lupus erythematosus 28.7 CR1 C4B C4A C3 C1S C1R
13 iga glomerulonephritis 28.6 MBL2 MASP1 CFP CFHR2 CFH C4A
14 complement deficiency 28.0 MBL2 CFP CFHR2 CFH CD55 CD46
15 glomerulonephritis 27.7 MBL2 MASP1 CR1 CFP CFH CD55
16 systemic lupus erythematosus 27.6 MBL2 CR1 CFHR2 CD55 CD46 C5AR1
17 complement component 3 deficiency, autosomal recessive 11.9
18 anti-basement membrane glomerulonephritis 10.3 CFP CFHR2
19 variola minor 10.3 CD55 CD46
20 juvenile dermatitis herpetiformis 10.3 C4B C4A
21 scarlet fever 10.3 CFP C3
22 acquired angioedema 10.2 C3 C1S
23 vulvar angiokeratoma 10.2 C5AR1 C1S
24 immune-complex glomerulonephritis 10.2 CFHR2 C4B C3
25 meningococcemia 10.2 MBL2 CFP
26 systemic lupus erythematosus 16 10.2 C4A C1R
27 pediatric systemic lupus erythematosus 10.2 C4B C4A C3
28 exudative glomerulonephritis 10.2 CFHR2 CFH
29 periodontal ehlers-danlos syndrome 10.2 C1S C1R
30 epilepsy, familial temporal lobe, 2 10.2 C4B C4A
31 psoriasis 13 10.2 C4B C4A C3
32 acute proliferative glomerulonephritis 10.2 C5AR1 C3
33 ehlers-danlos syndrome, periodontal type, 2 10.2 C1S C1R
34 ehlers-danlos syndrome, periodontal type, 1 10.2 C1S C1R
35 blood protein disease 10.1 CFHR2 C4B C4A
36 mannose-binding lectin deficiency 10.1 MBL2 CFP C5AR1
37 primary cutaneous b-cell lymphoma 10.1 CD59 CD55
38 felty syndrome 10.1 C4B C4A
39 scabies 10.1 MBL2 CFP
40 vulvar benign neoplasm 10.1 C5AR1 C1S
41 central serous chorioretinopathy 10.1 CFH C4B
42 complement factor h deficiency 10.1 CFH CD46
43 congenital intrinsic factor deficiency 10.1 C1S C1R
44 dense deposit disease 10.1 CFHR2 CFH C3
45 capillary leak syndrome 10.1 C4A C3 C1S
46 gingival recession 10.1 C1S C1R
47 retinal drusen 10.1 CFHR2 CFH C3
48 tick-borne relapsing fever 10.1 CFHR2 C4B C4A C3
49 hypersensitivity vasculitis 10.1 CFHR2 C4B C4A C3
50 atypical hemolytic uremic syndrome with complement gene abnormality 10.1 CFH CD46 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.56 MBL2
2 Decreased viability GR00240-S-1 9.56 CD59
3 Decreased viability GR00249-S 9.56 C5AR1 VSIG4
4 Decreased viability GR00381-A-1 9.56 C5AR1
5 Decreased viability GR00386-A-1 9.56 C1R C3
6 Decreased viability GR00402-S-2 9.56 C4B
7 Reduced mammosphere formation GR00396-S 9.1 C3 C4A C5AR1 C5AR2 CD59 VSIG4

MGI Mouse Phenotypes related to Complement Component 3 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.65 C3 C3AR1 C4B C5AR1 C5AR2 CD55
2 renal/urinary system MP:0005367 9.17 C3 C3AR1 C4B CD55 CD59 CFH

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, Spinal Cord, Whole Blood, B Cells, Neutrophil

Publications for Complement Component 3 Deficiency

Articles related to Complement Component 3 Deficiency:

(show top 50) (show all 167)
# Title Authors PMID Year
1
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome. 61
33563058 2021
2
C3 Drives Inflammatory Skin Carcinogenesis Independently of C5. 61
32682912 2021
3
Deficiency of complement component 3 may be linked to the development of constipation in FVB/N-C3em1Hlee /Korl mice. 61
33337564 2021
4
Complement C3 deficiency ameliorates aging related changes in the kidney. 61
32882264 2020
5
Combined liver-kidney transplantation for rare diseases. 61
33200012 2020
6
Loss of decay-accelerating factor triggers podocyte injury and glomerulosclerosis. 61
32717081 2020
7
Complement component 3 prevents imiquimod-induced psoriatic skin inflammation by inhibiting apoptosis in mice. 61
32535539 2020
8
Successful simultaneous liver-kidney transplantation for renal failure associated with hereditary complement C3 deficiency. 61
31970896 2020
9
The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan. 61
32793328 2020
10
IgE Contributes to Atherosclerosis and Obesity by Affecting Macrophage Polarization, Macrophage Protein Network, and Foam Cell Formation. 61
31996021 2020
11
Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration. 61
32922859 2020
12
Complement C3 activation regulates the production of tRNA-derived fragments Gly-tRFs and promotes alcohol-induced liver injury and steatosis. 61
31076642 2019
13
Safety profile after prolonged C3 inhibition. 61
30217791 2018
14
Complement Component C3 Promotes Cerebral Ischemia/Reperfusion Injury Mediated by TLR2/NFκB Activation in Diabetic Mice. 61
29948726 2018
15
C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism. 61
29724957 2018
16
IgG is elevated in obese white adipose tissue but does not induce glucose intolerance via Fcγ-receptor or complement. 61
28852207 2018
17
Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3. 61
30443255 2018
18
Complement C3 Affects Rac1 Activity in the Developing Brain. 61
29867343 2018
19
Reduced bone loss in a murine model of postmenopausal osteoporosis lacking complement component 3. 61
28667799 2018
20
Complement Dependence of Murine Costimulatory Blockade-Resistant Cellular Cardiac Allograft Rejection. 61
28444847 2017
21
Interaction of extremophilic archaeal viruses with human and mouse complement system and viral biodistribution in mice. 61
28846925 2017
22
Hereditary Homozygous C3 Deficiency. 61
28435995 2017
23
Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. 61
28566429 2017
24
Early immune responses are independent of RGC dysfunction in glaucoma with complement component C3 being protective. 61
28446616 2017
25
Distinct contributions of complement factors to platelet activation and fibrin formation in venous thrombus development. 61
28223279 2017
26
NLRP3 is Required for Complement-Mediated Caspase-1 and IL-1beta Activation in ICH. 61
27933491 2017
27
Complement component 3 deficiency prolongs MHC-II disparate skin allograft survival by increasing the CD4(+) CD25(+) regulatory T cells population. 61
27641978 2016
28
Complement and Antibody-mediated Enhancement of Red Blood Cell Invasion and Growth of Malaria Parasites. 61
27333049 2016
29
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency. 61
26847111 2016
30
C3 deficiency ameliorates the negative effects of irradiation of the young brain on hippocampal development and learning. 61
27029069 2016
31
Deficiency of the Complement Component 3 but Not Factor B Aggravates Staphylococcus aureus Septic Arthritis in Mice. 61
26787717 2016
32
Efficacy of Targeted Complement Inhibition in Experimental C3 Glomerulopathy. 61
26047789 2016
33
Clinical characteristics and genotype-phenotype correlations in C3 deficiency. 61
26435005 2016
34
Modulation of post-stroke degenerative and regenerative processes and subacute protection by site-targeted inhibition of the alternative pathway of complement. 61
26714866 2015
35
Dysregulation of adaptive immune responses in complement C3-deficient patients. 61
25446578 2015
36
rs2230201 polymorphism may dictate complement C3 levels and response to treatment in chronic hepatitis C patients. 61
24995942 2015
37
Complement deficiency promotes cutaneous wound healing in mice. 61
25548229 2015
38
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. 61
25559179 2015
39
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
40
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. 61
23963626 2014
41
Complement component 3 is necessary to preserve myocardium and myocardial function in chronic myocardial infarction. 61
24806427 2014
42
Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. 61
24321396 2014
43
C3 opsonization regulates endocytic handling of apoptotic cells resulting in enhanced T-cell responses to cargo-derived antigens. 61
24474777 2014
44
Early onset and enhanced growth of autochthonous mammary carcinomas in C3-deficient Her2/neu transgenic mice. 61
24228231 2013
45
Expressions of C5a and its receptor CD88 after spinal cord injury in C3-deficient mice. 61
23033813 2013
46
Impaired intestinal tolerance in the absence of a functional complement system. 61
23098807 2013
47
Complement mediated signaling on pulmonary CD103(+) dendritic cells is critical for their migratory function in response to influenza infection. 61
23326231 2013
48
Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. 61
23117396 2012
49
Rheumatoid factor-positive synovitis in a patient with C3 deficiency. 61
23043374 2012
50
Kidney injury accelerates cystogenesis via pathways modulated by heme oxygenase and complement. 61
22518005 2012

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 CFH CD59
2
Show member pathways
13.53 MBL2 MASP1 C5AR1 C4B C4A C3AR1
3
Show member pathways
12.19 MBL2 MASP1 CR1 CFH CD59 CD55
4
Show member pathways
12.06 MBL2 MASP1 CR1 CFP CFH CD59
5 11.94 MBL2 MASP1 CFH C5AR1 C4B C4A
6
Show member pathways
11.88 MBL2 MASP1 CFP CD55 C4B C4A
7 11.84 MBL2 C3 C1R
8 11.69 VSIG4 MBL2 MASP1 CR1 CFHR2 CFH
9 11.68 C4B C4A C3 C1S C1R
10 11.63 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 CFH CD59 CD55 CD46 C4B
2 extracellular space GO:0005615 9.96 MBL2 MASP1 CFP CFH CD59 C4B
3 extracellular region GO:0005576 9.73 MBL2 MASP1 CFP CFHR2 CFH CD59
4 cell surface GO:0009986 9.7 MBL2 CR1 CD59 CD55 CD46 C5AR1
5 secretory granule membrane GO:0030667 9.54 CR1 CD55 C5AR1
6 blood microparticle GO:0072562 9.1 CFH C4B C4A C3 C1S C1R

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.07 VSIG4 MBL2 MASP1 CR1 CFP CFH
2 neutrophil degranulation GO:0043312 10.04 CR1 CFP CD59 CD55 C5AR1 C3AR1
3 inflammatory response GO:0006954 9.99 C5AR2 C5AR1 C4B C4A C3AR1 C3
4 complement activation, classical pathway GO:0006958 9.97 MBL2 CR1 CD55 CD46 C4B C4A
5 positive regulation of cytosolic calcium ion concentration GO:0007204 9.88 CD55 C5AR2 C5AR1 C3AR1
6 positive regulation of angiogenesis GO:0045766 9.81 C5AR1 C3AR1 C3
7 negative regulation of endopeptidase activity GO:0010951 9.81 C4B C4A C3
8 complement activation GO:0006956 9.81 MBL2 MASP1 CFP CFH C4B C4A
9 viral entry into host cell GO:0046718 9.78 CR1 CD55 CD46
10 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.77 C5AR2 C5AR1 C3AR1
11 complement activation, alternative pathway GO:0006957 9.77 VSIG4 CR1 CFP CFH C3
12 innate immune response GO:0045087 9.77 VSIG4 MBL2 MASP1 CR1 CFP CFH
13 positive regulation of vascular endothelial growth factor production GO:0010575 9.72 C5AR1 C3AR1 C3
14 complement receptor mediated signaling pathway GO:0002430 9.71 CR1 C5AR2 C5AR1 C3AR1
15 regulation of complement-dependent cytotoxicity GO:1903659 9.65 CFH CD59 CD55
16 positive regulation of neutrophil chemotaxis GO:0090023 9.63 C5AR1 C3AR1
17 positive regulation of apoptotic cell clearance GO:2000427 9.63 C4B C4A C3
18 positive regulation of macrophage chemotaxis GO:0010759 9.62 C5AR1 C3AR1
19 amyloid-beta clearance GO:0097242 9.62 C5AR1 C3
20 positive regulation of regulatory T cell differentiation GO:0045591 9.61 CR1 CD46
21 negative regulation of complement activation GO:0045916 9.61 MASP1 CR1 CD55
22 complement activation, lectin pathway GO:0001867 9.6 MBL2 MASP1
23 opsonization GO:0008228 9.58 MBL2 C4B
24 negative regulation of complement activation, alternative pathway GO:0045957 9.57 VSIG4 CR1
25 negative regulation of activation of membrane attack complex GO:0001971 9.56 CR1 CD59
26 complement component C5a signaling pathway GO:0038178 9.54 C5AR2 C5AR1
27 positive regulation of activation of membrane attack complex GO:0001970 9.52 CR1 C3
28 regulation of complement activation GO:0030449 9.5 CR1 CFP CFHR2 CFH CD59 CD55

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

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 9.58 MASP1 C1S C1R
2 virus receptor activity GO:0001618 9.54 CR1 CD55 CD46
3 endopeptidase inhibitor activity GO:0004866 9.33 C4B C4A C3
4 complement binding GO:0001848 9.32 CD59 C4B
5 complement component C3b binding GO:0001851 9.26 VSIG4 CR1
6 complement component C5a receptor activity GO:0004878 8.96 C5AR2 C5AR1
7 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....