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 74
Complement Component-3 13

Classifications:



External Ids:

Disease Ontology 12 DOID:8354
NCIt 51 C9468
UMLS 74 C1332655

Summaries for Complement Component 3 Deficiency

MalaCards based summary : Complement Component 3 Deficiency, also known as c3 deficiency, is related to complement factor i deficiency and neisseria meningitidis infection. 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 spinal cord, t cells and skin, and related phenotype is homeostasis/metabolism.

Wikipedia : 77 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

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

MGI Mouse Phenotypes related to Complement Component 3 Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 C3 C3AR1 C5AR2 CFI CFP S100B

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:

42
Spinal Cord, T Cells, Skin, Brain, B Cells, Liver

Publications for Complement Component 3 Deficiency

Articles related to Complement Component 3 Deficiency:

(show top 50) (show all 54)
# Title Authors Year
1
Hereditary Homozygous C3 Deficiency. ( 28435995 )
2017
2
Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. ( 28566429 )
2017
3
Complement component 3 deficiency prolongs MHC-II disparate skin allograft survival by increasing the CD4(+) CD25(+) regulatory T cells population. ( 27641978 )
2016
4
Clinical characteristics and genotype-phenotype correlations in C3 deficiency. ( 26435005 )
2016
5
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency. ( 26847111 )
2016
6
C3 deficiency ameliorates the negative effects of irradiation of the young brain on hippocampal development and learning. ( 27029069 )
2016
7
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. ( 25559179 )
2015
8
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. ( 23963626 )
2014
9
Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. ( 24321396 )
2014
10
Rheumatoid factor-positive synovitis in a patient with C3 deficiency. ( 23043374 )
2012
11
Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. ( 23117396 )
2012
12
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. ( 21501302 )
2011
13
Complement C3 deficiency prevent against the onset of streptozotocin-induced autoimmune diabetes involving expansion of regulatory T cells. ( 21767994 )
2011
14
Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. ( 22194859 )
2011
15
Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. ( 20800648 )
2010
16
Screening for C3 deficiency in newborns using microarrays. ( 19390687 )
2009
17
Recurrent meningitis secondary to isolated C3 deficiency. ( 19391010 )
2009
18
The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency. ( 18201916 )
2008
19
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. ( 18562603 )
2008
20
Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. ( 18802120 )
2008
21
Recurrent meningitis in a family with C3 deficiency. ( 16585828 )
2006
22
Apolipoprotein C3 deficiency results in diet-induced obesity and aggravated insulin resistance in mice. ( 15734841 )
2005
23
Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. ( 15781264 )
2005
24
A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene. ( 16158444 )
2005
25
Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. ( 14639503 )
2004
26
Effect of complement component C3 deficiency on experimental Lyme borreliosis in mice. ( 12874322 )
2003
27
Recurrent pneumococcal meningitis in homozygous C3 deficiency. ( 12173704 )
2002
28
Influence of C3 deficiency on atherosclerosis. ( 12081998 )
2002
29
Homozygous hereditary C3 deficiency due to a premature stop codon. ( 12462331 )
2002
30
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. ( 11139258 )
2001
31
Hereditary human complement C3 deficiency owing to reduced levels of C3 mRNA. ( 11422912 )
2001
32
Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. ( 9510185 )
1998
33
Acquired C3 deficiency in patients with alcoholic cirrhosis predisposes to infection and increased mortality. ( 9176087 )
1997
34
Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred. ( 8938101 )
1996
35
Compound heterozygous complement C3 deficiency. ( 7890305 )
1995
36
A hereditary C3 deficiency due to aberrant splicing of exon 10. ( 7923934 )
1994
37
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. ( 7961791 )
1994
38
Inherited complement C3 deficiency: a defect in C3 secretion. ( 8026514 )
1994
39
Complement C3 deficiency: human, animal, and experimental models. ( 8031472 )
1994
40
Homozygous hereditary C3 deficiency due to a partial gene deletion. ( 1350678 )
1992
41
An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies. ( 1544226 )
1992
42
Inherited C3 deficiency and meningococcal disease in a teenager. ( 1630861 )
1992
43
Homozygous C3 deficiency associated with IgA nephropathy. ( 1944729 )
1991
44
Molecular basis of complement C3 deficiency in guinea pigs. ( 1973176 )
1990
45
Molecular basis of hereditary C3 deficiency. ( 2212005 )
1990
46
Inherited C3 deficiency with recurrent infections and glomerulonephritis. ( 2963536 )
1988
47
Inherited C3 deficiency of the complement system. ( 3264513 )
1988
48
C3 deficiency presenting as Raynaud's phenomenon in a 6-year-old girl with a persistent erythematous rash. ( 3742869 )
1986
49
Selective C3 deficiency due to C3 nephritic factor in an apparently healthy girl. ( 3834579 )
1985
50
Partial lipodystrophy and familial C3 deficiency. ( 7358404 )
1980

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:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.61 C3 C3AR1 CFP
2 inflammatory response GO:0006954 9.58 C3 C3AR1 C5AR2
3 innate immune response GO:0045087 9.56 C3 CFI CFP S100B
4 complement activation GO:0006956 9.46 C3 CFP
5 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.37 C3AR1 C5AR2
6 positive regulation of vascular endothelial growth factor production GO:0010575 9.32 C3 C3AR1
7 complement activation, alternative pathway GO:0006957 9.16 C3 CFP
8 regulation of complement activation GO:0030449 9.02 C3 C3AR1 C5AR2 CFI CFP
9 complement receptor mediated signaling pathway GO:0002430 8.96 C3AR1 C5AR2

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 8.32 CFI

Sources for Complement Component 3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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