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:

(showing 104, show less)
# 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
51 complement component 2 deficiency 10.0 C4B C4A
52 complement factor h deficiency 9.9 CFI CD46
53 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9
54 pneumococcal meningitis 9.9
55 progressive relapsing multiple sclerosis 9.9 MBL2 MASP1 CFHR2
56 retinal drusen 9.9 CFI CFHR2 C3
57 atypical hemolytic uremic syndrome with complement gene abnormality 9.9 CFI CD46 C3
58 enterocolitis 9.8 CFI CD46 C3
59 immunodeficiency due to a classical component pathway complement deficiency 9.8 C4B C4A C1S C1R
60 meningococcal meningitis 9.8 MBL2 CFP CFHR2 C4B C3
61 bacterial meningitis 9.8 MBL2 CR1 CFP C3
62 steroid inherited metabolic disorder 9.8 C4B C4A
63 thrombotic thrombocytopenic purpura 9.8 CFI CD46 C3
64 immune deficiency disease 9.8 MBL2 CFP CFHR2 CD46 C5AR1
65 atherosclerosis susceptibility 9.8
66 multiple sclerosis 9.8
67 otitis media 9.8
68 pulmonary hypertension, primary, 1 9.8
69 mucopolysaccharidosis-plus syndrome 9.8
70 deficiency anemia 9.8
71 pulmonary hypertension 9.8
72 exanthem 9.8
73 bone disease 9.8
74 aortic atherosclerosis 9.8
75 tonsillitis 9.8
76 pertussis 9.8
77 iron deficiency anemia 9.8
78 plica syndrome 9.8
79 crescentic glomerulonephritis 9.8
80 iron metabolism disease 9.8
81 synovitis 9.8
82 liver cirrhosis 9.8
83 pneumonia 9.8
84 kidney disease 9.8
85 haemophilus influenzae 9.8
86 raynaud phenomenon 9.8
87 complement component 8 deficiency 9.8
88 hypoxia 9.8
89 spinal cord injury 9.8
90 rapidly involuting congenital hemangioma 9.8
91 anemia, autoimmune hemolytic 9.8 CD59 CD55 C3 C1S
92 hypersensitivity reaction type iii disease 9.7 CFP CFHR2 C5AR1 C4B C4A C3
93 degeneration of macula and posterior pole 9.7 CFI CFHR2 CD46 C3
94 hellp syndrome 9.6 MBL2 CFI CD46
95 diarrhea 9.6 CFI CD55 CD46 C3
96 c3 glomerulopathy 9.5 CFP CFI CFHR2 CD46 C3
97 3mc syndrome 9.5 MBL2 MASP1 C1S C1R
98 vulvar angiokeratoma 9.4 CR1 CD59 CD55 C5AR1 C1S
99 hereditary angioedema 9.3 MBL2 MASP1 C4B C4A C1S
100 hemolytic-uremic syndrome 9.1 CFI CFHR2 CD55 CD46 C4B C3AR1
101 hemolytic anemia 8.9 CR1 CFI CD59 CD55 CD46 C3
102 afibrinogenemia, congenital 8.8 CR1 CFP CFI CFHR2 CD46 C4B
103 macular degeneration, age-related, 1 7.0 MBL2 CR1 CFP CFI CFHR2 CD59
104 hemolytic uremic syndrome, atypical 1 5.9 VSIG4 MBL2 MASP1 CR1 CFP CFI

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 (showing 1, show less)
  • recurrent bacterial infections

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

26 (showing 21, show less)
# 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 (showing 1, show less)
# 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:

(showing 160, show less)
# 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
51
Experimental models of membranoproliferative glomerulonephritis, including dense deposit disease. 61
21252520 2011
52
Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. 61
20800648 2010
53
Treatment with human complement factor H rapidly reverses renal complement deposition in factor H-deficient mice. 61
20445496 2010
54
Role of complement in innate immunity and infections. 61
20370619 2010
55
A novel, complement-mediated way to enhance the interplay between macrophages, dendritic cells and T lymphocytes. 61
19796821 2009
56
Complement-dependent inflammation and injury in a murine model of brain dead donor hearts. 61
19815824 2009
57
[An exceptional component C3 deficiency revealed by serum protein electrophoresis]. 61
19939777 2009
58
A role for complement in the enhanced susceptibility of steatotic livers to ischemia and reperfusion injury. 61
19752222 2009
59
A complement-dependent balance between hepatic ischemia/reperfusion injury and liver regeneration in mice. 61
19620784 2009
60
Complement 3 deficiency impairs early pregnancy in mice. 61
19205046 2009
61
Crry deficiency in complement sufficient mice: C3 consumption occurs without associated renal injury. 61
18947875 2009
62
Recurrent meningitis secondary to isolated C3 deficiency. 61
19391010 2009
63
Screening for C3 deficiency in newborns using microarrays. 61
19390687 2009
64
Serum bactericidal activity against Neisseria meningitidis in patients with C3 nephritic factors is dependent on IgG allotypes. 61
18667363 2008
65
Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. 61
18802120 2008
66
Complement C3 deficiency leads to accelerated amyloid beta plaque deposition and neurodegeneration and modulation of the microglia/macrophage phenotype in amyloid precursor protein transgenic mice. 61
18562603 2008
67
C3 contributes to the cross-protective immunity induced by Babesia gibsoni phosphoriboprotein P0 against a lethal B. rodhaini infection. 61
18533933 2008
68
Complement-mediated dysfunction of glomerular filtration barrier accelerates progressive renal injury. 61
18354030 2008
69
The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency. 61
18201916 2008
70
[Hypocomplementaemia in children with chronic viral hepatitis as a risk factor for invasive encapsulated bacteria infection]. 61
19418946 2008
71
The role of complement in innate, adaptive and eosinophil-dependent immunity to the nematode Nippostrongylus brasiliensis. 61
17675237 2008
72
Development of Sjogren's syndrome in nonobese diabetic-derived autoimmune-prone C57BL/6.NOD-Aec1Aec2 mice is dependent on complement component-3. 61
17675493 2007
73
Antibody-enhanced cross-presentation of self antigen breaks T cell tolerance. 61
17446931 2007
74
Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H. 61
16499568 2006
75
Recurrent meningitis in a family with C3 deficiency. 61
16585828 2006
76
Macrophages from C3-deficient mice have impaired potency to stimulate alloreactive T cells. 61
16304047 2006
77
Relative roles of complement factor 3 and mannose-binding lectin in host defense against infection. 61
16299314 2005
78
A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene. 61
16158444 2005
79
Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 61
15781264 2005
80
Apolipoprotein C3 deficiency results in diet-induced obesity and aggravated insulin resistance in mice. 61
15734841 2005
81
Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease. 61
15643297 2005
82
NFATc2 and NFATc3 transcription factors play a crucial role in suppression of CD4+ T lymphocytes by CD4+ CD25+ regulatory T cells. 61
15657288 2005
83
Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. 61
14639503 2004
84
Primary immunodeficiencies associated with pneumococcal disease. 61
14612669 2003
85
Effect of complement component C3 deficiency on experimental Lyme borreliosis in mice. 61
12874322 2003
86
Homozygous hereditary C3 deficiency due to a premature stop codon. 61
12462331 2002
87
Recurrent pneumococcal meningitis in homozygous C3 deficiency. 61
12173704 2002
88
Influence of C3 deficiency on atherosclerosis. 61
12081998 2002
89
Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters. 61
11813855 2001
90
Immune function in Swedish élite orienteers. 61
11696211 2001
91
CD19 can regulate B lymphocyte signal transduction independent of complement activation. 61
11544305 2001
92
Hereditary human complement C3 deficiency owing to reduced levels of C3 mRNA. 61
11422912 2001
93
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. 61
11139258 2001
94
Detection of two variants of complement component C3 in C3-deficient guinea pigs distinguished by the absence and presence of a thiolester. 61
11074251 2000
95
[C3 deficiency]. 61
11212688 2000
96
Distinction between processing of normal and mutant complement C3 within human skin fibroblasts. 61
10092087 1999
97
Protection against meningococcal serogroup ACYW disease in complement-deficient individuals vaccinated with the tetravalent meningococcal capsular polysaccharide vaccine. 61
9844044 1998
98
Acute nephrotoxic serum nephritis in complement knockout mice: relative roles of the classical and alternate pathways in neutrophil recruitment and proteinuria. 61
9829481 1998
99
Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. 61
9510185 1998
100
Hypocomplementaemia caused by C3 nephritic factors (C3 NeF): clinical findings and the coincidence of C3 NeF type II with anti-C1q autoantibodies. 61
9437406 1997
101
Acquired C3 deficiency in patients with alcoholic cirrhosis predisposes to infection and increased mortality. 61
9176087 1997
102
Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred. 61
8938101 1996
103
Animal models for complement deficiencies. 61
8613484 1995
104
Effect of heparin anticoagulation on neutrophil adhesion molecules and release of IL8: C3 is not essential. 61
8595612 1995
105
Compound heterozygous complement C3 deficiency. 61
7890305 1995
106
A hereditary C3 deficiency due to aberrant splicing of exon 10. 61
7923934 1994
107
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. 61
7961791 1994
108
Inherited complement C3 deficiency: a defect in C3 secretion. 61
8026514 1994
109
Hereditary complement factor I deficiency. 61
7922290 1994
110
The third component of complement protects against Escherichia coli endotoxin-induced shock and multiple organ failure. 61
8294868 1994
111
Complement C3 deficiency: human, animal, and experimental models. 61
8031472 1994
112
Hereditary deficiency of C3 in animals and humans. 61
8340676 1993
113
Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families. 61
1396929 1992
114
Homozygous hereditary C3 deficiency due to a partial gene deletion. 61
1350678 1992
115
Inherited C3 deficiency and meningococcal disease in a teenager. 61
1630861 1992
116
An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies. 61
1544226 1992
117
A covalent dimer of complement C4b serves as a subunit of a novel C5 convertase that involves no C3 derivatives. 61
1861081 1991
118
Homozygous C3 deficiency associated with IgA nephropathy. 61
1944729 1991
119
Molecular basis of hereditary C3 deficiency. 61
2212005 1990
120
Molecular basis of complement C3 deficiency in guinea pigs. 61
1973176 1990
121
Combined immunodeficiency associated with xeroderma pigmentosum. 61
2359729 1990
122
Studies of C3d,g in normal human epidermal basement membrane. 61
2191048 1990
123
Complement components and receptors: deficiencies and disease associations. 61
2091785 1990
124
Persistent low C3 levels associated with meningococcal meningitis and membranoproliferative glomerulonephritis. 61
2127874 1990
125
Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups. 61
2570284 1989
126
Membranoproliferative glomerulonephritis in a patient with congenital deficiency of the third component of complement: effect of treatment with plasma. 61
2719026 1989
127
Defective expression of basement membrane-associated C3d,g in papulonodular basal cell carcinomas. 61
2654297 1989
128
Immunopathogenesis of arterial diseases in animals and man. 61
2665030 1989
129
The regulation of IgG subclass production in man: low serum IgG4 in inherited deficiencies of the classical pathway of C3 activation. 61
3416908 1988
130
C3d,g is present in normal human epidermal basement membrane. 61
3135326 1988
131
Screening for complement deficiencies in patients surviving from epidemic meningococcal disease. 61
3172175 1988
132
[Recurrent pneumococcal meningitis associated with C3 deficiency]. 61
2966955 1988
133
Inherited C3 deficiency of the complement system. 61
3264513 1988
134
Inherited C3 deficiency with recurrent infections and glomerulonephritis. 61
2963536 1988
135
Establishment of central nervous system infection by canine distemper virus: breach of the blood-brain barrier and facilitation by antiviral antibody. 61
2963430 1987
136
Hereditary partial deficiency of the third component of complement associated with minimal change nephrotic syndrome. 61
3153340 1987
137
Bactericidal capacity against Neisseria meningitidis of normal human serum and sera with functional deficiencies of the third and eight complement factor. 61
3113967 1987
138
Clindamycin at subinhibitory concentrations enhances antibody- and complement-dependent phagocytosis by human polymorphonuclear leukocytes of Staphylococcus aureus. 61
3608624 1987
139
Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs. 61
3789016 1986
140
Impaired humoral immune response in complement C3-deficient guinea pigs: absence of secondary antibody response. 61
2945728 1986
141
C3 deficiency presenting as Raynaud's phenomenon in a 6-year-old girl with a persistent erythematous rash. 61
3742869 1986
142
An inherited deficiency of the third component of complement, C3, in guinea pigs. 61
3512275 1986
143
Selective C3 deficiency due to C3 nephritic factor in an apparently healthy girl. 61
3834579 1985
144
The clinical manifestations of a genetically determined deficiency of the third component of complement in the dog. 61
2982527 1985
145
Mixed-pattern immune deposit glomerulonephritis in a child with inherited deficiency of the third component of complement. 61
3155591 1985
146
Inherited deficiency of the third component of complement associated with recurrent pyogenic infections, circulating immune complexes, and vasculitis in a Dutch family. 61
6848983 1983
147
Structure and expression of the C3 gene. 61
6356427 1983
148
Genetically determined deficiency of the third component of complement in the dog. 61
7233211 1981
149
Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome. 61
7369233 1980
150
Complement deficiency and nephritis. A report of a family. 61
6103091 1980
151
Partial lipodystrophy and familial C3 deficiency. 61
7358404 1980
152
Studies on immunosuppression by cobra venom factor. III. On early responses to sheep erythrocytes in C5-deficient mice. 61
712078 1978
153
Homozygous C3 deficiency: detection of C3 by radioimmunoassay. 61
303161 1977
154
HLA-A3 linked C3 deficiency in multiple sclerosis. 61
901638 1977
155
Hereditary deficiency of the third component of complement in a child with fever, skin rash, and arthralgias: response to transfusion of whole blood. 61
318684 1977
156
Coagulation studies in a patient with homozygous C3 deficiency. 61
857846 1977
157
The interrelationship between hypocomplementaemia, partial lipodystrophy and mesangiocapillary glomerulonephritis. 61
995791 1976
158
Homozygous human C3 deficiency. The role of C3 in antibody production, C-1s-induced vasopermeability, and cobra venom-induced passive hemolysis. 61
1107355 1976
159
Genetics of the complement system. 61
768477 1975
160
[The complement system]. 61
1215899 1975

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:

(showing 9, show less)
# 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:

(showing 6, show less)
# 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:

(showing 24, show less)
# 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:

(showing 8, show less)
# 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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