Complement Component 3 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CMP064 MIFTS: 30	Complement Component 3 Deficiency Categories: Immune diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ⁷²

Classifications:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:8354

NCIt ⁵⁰ C9468

UMLS ⁷² C1332655

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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 Complement and coagulation cascades. Affiliated tissues include t cells, skin and brain.

Wikipedia : ⁷⁵ Complement component 3, often simply called C3, is a protein of the immune system. It plays a central... more...

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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 51)

#	Related Disease	Score	Top Affiliating Genes
1	complement factor i deficiency	31.1	CFP CFI C3
2	neisseria meningitidis infection	29.9	CFP C3
3	membranoproliferative glomerulonephritis	29.7	CFP C3
4	complement deficiency	29.6	CFP C3 C2
5	glomerulonephritis	29.2	CFP CFI C3
6	complement component 3 deficiency, autosomal recessive	12.9
7	bacterial infectious disease	10.2
8	meningitis	10.1
9	c3 glomerulopathy	10.1	CFP C3
10	mollaret meningitis	10.1
11	retinal drusen	10.1	C3 C2
12	pneumococcal meningitis	9.9
13	atherosclerosis susceptibility	9.8
14	multiple sclerosis	9.8
15	systemic lupus erythematosus	9.8
16	otitis media	9.8
17	pulmonary hypertension, primary, 1	9.8
18	complement component 5 deficiency	9.8
19	mucopolysaccharidosis-plus syndrome	9.8
20	deficiency anemia	9.8
21	pulmonary hypertension	9.8
22	exanthem	9.8
23	paroxysmal nocturnal hemoglobinuria	9.8
24	bone disease	9.8
25	aortic atherosclerosis	9.8
26	tonsillitis	9.8
27	pertussis	9.8
28	lyme disease	9.8
29	iron deficiency anemia	9.8
30	iron metabolism disease	9.8
31	synovitis	9.8
32	iga glomerulonephritis	9.8
33	immune-complex glomerulonephritis	9.8
34	liver cirrhosis	9.8
35	pneumonia	9.8
36	hemoglobinuria	9.8
37	vasculitis	9.8
38	lupus erythematosus	9.8
39	genetic atypical hemolytic-uremic syndrome	9.8
40	haemophilus influenzae	9.8
41	raynaud phenomenon	9.8
42	complement component 8 deficiency	9.8
43	hypoxia	9.8
44	spinal cord injury	9.8
45	rapidly involuting congenital hemangioma	9.8
46	enterocolitis	9.7	CFI C3
47	degeneration of macula and posterior pole	9.7	CFI C3
48	afibrinogenemia, congenital	9.5	CFI C3
49	afibrinogenemia	9.4	CFP CFI C3
50	hemolytic uremic syndrome, atypical 1	9.3	CFP CFI C3

Graphical network of the top 20 diseases related to Complement Component 3 Deficiency:

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Symptoms & Phenotypes for Complement Component 3 Deficiency

Symptoms:

¹²

• recurrent bacterial infections

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Drugs & Therapeutics for Complement Component 3 Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Component 3 Deficiency

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Genetic Tests for Complement Component 3 Deficiency

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Anatomical Context for Complement Component 3 Deficiency

MalaCards organs/tissues related to Complement Component 3 Deficiency:

⁴¹

T Cells, Skin, Brain, Liver, Spinal Cord, Neutrophil, Bone

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Publications for Complement Component 3 Deficiency

Articles related to Complement Component 3 Deficiency:

(show top 50) (show all 157)

#	Title	Authors	PMID	Year
1	Complement C3 activation regulates the production of tRNA-derived fragments Gly-tRFs and promotes alcohol-induced liver injury and steatosis. ³⁸	Zhong F...He S	31076642	2019
2	Safety profile after prolonged C3 inhibition. ³⁸	Reis ES...Lambris JD	30217791	2018
3	Complement Component C3 Promotes Cerebral Ischemia/Reperfusion Injury Mediated by TLR2/NFκB Activation in Diabetic Mice. ³⁸	Lin Z...Dai H	29948726	2018
4	C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism. ³⁸	Ling GS...Botto M	29724957	2018
5	IgG is elevated in obese white adipose tissue but does not induce glucose intolerance via Fcγ-receptor or complement. ³⁸	van Dam AD...van Harmelen V	28852207	2018
6	Reduced bone loss in a murine model of postmenopausal osteoporosis lacking complement component 3. ³⁸	MacKay DL...Dennis JE	28667799	2018
7	Complement C3 Affects Rac1 Activity in the Developing Brain. ³⁸	Gorelik A...Reiner O	29867343	2018
8	Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3. ³⁸	Omoyinmi E...Eleftheriou D	30443255	2018
9	Complement Dependence of Murine Costimulatory Blockade-Resistant Cellular Cardiac Allograft Rejection. ³⁸	Chun N...Heeger PS	28444847	2017
10	Interaction of extremophilic archaeal viruses with human and mouse complement system and viral biodistribution in mice. ³⁸	Wu L...Moghimi SM	28846925	2017
11	Hereditary Homozygous C3 Deficiency. ³⁸	Bathia JN...Guha S	28435995	2017
12	Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. ³⁸	Shi Q...Lemere CA	28566429	2017
13	Early immune responses are independent of RGC dysfunction in glaucoma with complement component C3 being protective. ³⁸	Harder JM...John SWM	28446616	2017
14	Distinct contributions of complement factors to platelet activation and fibrin formation in venous thrombus development. ³⁸	Subramaniam S...Ruf W	28223279	2017
15	NLRP3 is Required for Complement-Mediated Caspase-1 and IL-1beta Activation in ICH. ³⁸	Yao ST...Ran QS	27933491	2017
16	Complement component 3 deficiency prolongs MHC-II disparate skin allograft survival by increasing the CD4(+) CD25(+) regulatory T cells population. ³⁸	Zheng QY...Zhang KQ	27641978	2016
17	Complement and Antibody-mediated Enhancement of Red Blood Cell Invasion and Growth of Malaria Parasites. ³⁸	Biryukov S...Stoute JA	27333049	2016
18	Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency. ³⁸	da Silva KR...Isaac L	26847111	2016
19	C3 deficiency ameliorates the negative effects of irradiation of the young brain on hippocampal development and learning. ³⁸	Kalm M...Blomgren K	27029069	2016
20	Deficiency of the Complement Component 3 but Not Factor B Aggravates Staphylococcus aureus Septic Arthritis in Mice. ³⁸	Na M...Jin T	26787717	2016
21	Efficacy of Targeted Complement Inhibition in Experimental C3 Glomerulopathy. ³⁸	Ruseva MM...Pickering MC	26047789	2016
22	Clinical characteristics and genotype-phenotype correlations in C3 deficiency. ³⁸	Okura Y...Ariga T	26435005	2016
23	Modulation of post-stroke degenerative and regenerative processes and subacute protection by site-targeted inhibition of the alternative pathway of complement. ³⁸	Alawieh A...Tomlinson S	26714866	2015
24	Dysregulation of adaptive immune responses in complement C3-deficient patients. ³⁸	Pekkarinen PT...Arstila TP	25446578	2015
25	Complement deficiency promotes cutaneous wound healing in mice. ³⁸	Rafail S...Lambris JD	25548229	2015
26	rs2230201 polymorphism may dictate complement C3 levels and response to treatment in chronic hepatitis C patients. ³⁸	Chowdhury SJ...Kar P	24995942	2015
27	The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. ³⁸	Xing EM...Ponder KP	25559179	2015
28	Association of anti-acidic ribosomal protein P0 and anti-galectin 3 antibodies with the development of skin lesions in systemic lupus erythematosus. ³⁸	Shi ZR...Wang L	25307291	2015
29	Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. ³⁸	Kurvers RA...van de Kar NC	23963626	2014
30	Complement component 3 is necessary to preserve myocardium and myocardial function in chronic myocardial infarction. ³⁸	Wysoczynski M...Rokosh G	24806427	2014
31	Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. ³⁸	Ghannam A...Drouet C	24321396	2014
32	C3 opsonization regulates endocytic handling of apoptotic cells resulting in enhanced T-cell responses to cargo-derived antigens. ³⁸	Baudino L...Botto M	24474777	2014
33	Early onset and enhanced growth of autochthonous mammary carcinomas in C3-deficient Her2/neu transgenic mice. ³⁸	Bandini S...Cavallo F	24228231	2013
34	Expressions of C5a and its receptor CD88 after spinal cord injury in C3-deficient mice. ³⁸	Guo Q...Lin S	23033813	2013
35	Impaired intestinal tolerance in the absence of a functional complement system. ³⁸	Pekkarinen PT...Arstila TP	23098807	2013
36	Complement mediated signaling on pulmonary CD103(+) dendritic cells is critical for their migratory function in response to influenza infection. ³⁸	Kandasamy M...Sivasankar B	23326231	2013
37	Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. ³⁸	Miller EC...Atkinson JP	23117396	2012
38	Rheumatoid factor-positive synovitis in a patient with C3 deficiency. ³⁸	Okura Y...Ariga T	23043374	2012
39	Kidney injury accelerates cystogenesis via pathways modulated by heme oxygenase and complement. ³⁸	Zhou J...Mrug M	22518005	2012
40	The effect of anti-Anisakis simplex antibody levels on C3 and C4 complement components in human sera. ³⁸	Garcia-Hernandez P...Cuellar C	21729389	2012
41	Genetic Deficiency of Complement Component 3 Does Not Alter Disease Progression in a Mouse Model of Huntington's Disease. ³⁸	Larkin PB...Muchowski PJ	23097680	2012
42	The protective role of CD59 and pathogenic role of complement in hepatic ischemia and reperfusion injury. ³⁸	Zhang J...Peng Z	22019898	2011
43	A protective role of complement component 3 in T cell-mediated skin inflammation. ³⁸	Purwar R...Werfel T	21569105	2011
44	A novel mutation in the C3 gene and recurrent invasive pneumococcal infection: a clue for vaccine development. ³⁸	Goldberg M...Katz Y	21676463	2011
45	Complement C3 deficiency prevent against the onset of streptozotocin-induced autoimmune diabetes involving expansion of regulatory T cells. ³⁸	Gao X...Fu Z	21767994	2011
46	Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. ³⁸	Okura Y...Ariga T	21501302	2011
47	Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. ³⁸	Bauer EM...Bauer PM	22194859	2011
48	Experimental models of membranoproliferative glomerulonephritis, including dense deposit disease. ³⁸	Vernon KA...Cook T	21252520	2011
49	Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. ³⁸	Guo Q...Su B	20800648	2010
50	Treatment with human complement factor H rapidly reverses renal complement deposition in factor H-deficient mice. ³⁸	Fakhouri F...Pickering MC	20445496	2010

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Genes for Complement Component 3 Deficiency

Genes related to Complement Component 3 Deficiency (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	C3	Complement C3	Protein Coding	35.25	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	C3AR1	Complement C3a Receptor 1	Protein Coding	15.69	DISEASES inferred ¹⁵
3	C5AR2	Complement Component 5a Receptor 2	Protein Coding	15.68	DISEASES inferred ¹⁵
4	CFP	Complement Factor Properdin	Protein Coding	15.51	DISEASES inferred ¹⁵
5	MBNL3	Muscleblind Like Splicing Regulator 3	Protein Coding	15.38	DISEASES inferred ¹⁵
6	CFI	Complement Factor I	Protein Coding	14.72	DISEASES inferred ¹⁵
7	C2	Complement C2	Protein Coding	14.59	DISEASES inferred ¹⁵

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Variations for Complement Component 3 Deficiency

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Expression for Complement Component 3 Deficiency

Search GEO for disease gene expression data for Complement Component 3 Deficiency.

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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	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.44	CFP CFI C5AR2 C3AR1 C3 C2
2	Complement and coagulation cascades ³⁷ ¹	11.7	CFI C3AR1 C3 C2
3	Complement Pathway ⁶⁴ Show member pathways Alternative Complement Pathway ⁶⁴ Classical Complement Pathway ⁶⁴ Complement Activation ¹ Complement Activation Pathways ⁶⁷ Lectin Induced Complement Pathway ⁶⁴	11.52	CFP C3 C2
4	Creation of C4 and C2 activators ⁶⁶ Show member pathways Alternative complement activation ⁶⁶ Classical antibody-mediated complement activation ⁶⁶ Complement cascade ⁶⁶ Ficolins bind to repetitive carbohydrate structures on the target cell surface ⁶⁶ Initial triggering of complement ⁶⁶ Lectin pathway of complement activation ⁶⁶ Terminal pathway of complement ⁶⁶	11.52	CFI C5AR2 C3AR1 C3 C2
5	Staphylococcus aureus infection ³⁷	11.44	CFI C3AR1 C3 C2
6	Pertussis ³⁷	11.28	C3 C2
7	Immune response Lectin induced complement pathway ²² Show member pathways Activation of C3 and C5 ⁶⁶ Immune response Alternative complement pathway ²² Immune response Classical complement pathway ²² Regulation of Complement cascade ⁶⁶	11.23	CFP CFI C5AR2 C3AR1 C3 C2

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GO Terms for Complement Component 3 Deficiency

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	neutrophil degranulation	GO:0043312	9.69	CFP C3AR1 C3
2	inflammatory response	GO:0006954	9.67	C5AR2 C3AR1 C3
3	innate immune response	GO:0045087	9.67	CFP CFI C3 C2
4	complement activation, classical pathway	GO:0006958	9.58	CFI C3 C2
5	phospholipase C-activating G protein-coupled receptor signaling pathway	GO:0007200	9.48	C5AR2 C3AR1
6	positive regulation of vascular endothelial growth factor production	GO:0010575	9.46	C3AR1 C3
7	proteolysis	GO:0006508	9.43	CFI C2
8	complement activation	GO:0006956	9.33	CFP C3 C2
9	complement receptor mediated signaling pathway	GO:0002430	9.32	C5AR2 C3AR1
10	complement activation, alternative pathway	GO:0006957	9.26	CFP C3
11	regulation of complement activation	GO:0030449	9.1	CFP CFI C5AR2 C3AR1 C3 C2
12	positive regulation of apoptotic cell clearance	GO:2000427	8.96	C3 C2

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	8.62	CFI C2

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Sources for Complement Component 3 Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia