MCID: CMP064
MIFTS: 26

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 73
Complement Component-3 13

Classifications:



External Ids:

Disease Ontology 12 DOID:8354
NCIt 50 C9468
UMLS 73 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 skin, t cells and spinal cord, and related phenotype is homeostasis/metabolism.

Wikipedia : 76 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:

46
# 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:

41
Skin, T Cells, Spinal Cord

Publications for Complement Component 3 Deficiency

Articles related to Complement Component 3 Deficiency:

# Title Authors Year
1
Complement component 3 deficiency prolongs MHC-II disparate skin allograft survival by increasing the CD4(+) CD25(+) regulatory T cells population. ( 27641978 )
2016
2
Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. ( 23117396 )
2012
3
Compound heterozygous complement C3 deficiency. ( 7890305 )
1995

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 8.8 C3 CFI CFP

Sources for Complement Component 3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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