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

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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 ⁷³

Complement Component-3 ¹³

Classifications:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:8354

NCIt ⁵⁰ C9468

UMLS ⁷³ C1332655

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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...

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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 all 28)

#	Related Disease	Score	Top Affiliating Genes
1	complement factor i deficiency	31.7	C3 CFI CFP
2	neisseria meningitidis infection	29.7	C3 CFP
3	glomerulonephritis	29.6	C3 CFI CFP
4	complement component 3 deficiency, autosomal recessive	12.7
5	sjogren syndrome	10.2
6	c3 glomerulopathy	10.0	C3 CFP
7	enterocolitis	10.0	C3 CFI
8	complement deficiency	10.0	C3 CFP
9	degeneration of macula and posterior pole	10.0	C3 CFI
10	meningitis	10.0
11	membranoproliferative glomerulonephritis	10.0	C3 CFP
12	afibrinogenemia, congenital	10.0	C3 CFI
13	afibrinogenemia	9.9	C3 CFI CFP
14	hemolytic uremic syndrome, atypical 1	9.9	C3 CFI CFP
15	hemolytic-uremic syndrome	9.8	C3 CFI
16	bacterial meningitis	9.8	CFP S100B
17	multiple sclerosis	9.8
18	systemic lupus erythematosus	9.8
19	pulmonary hypertension	9.8
20	spinal cord injury	9.8
21	pertussis	9.8
22	synovitis	9.8
23	iga glomerulonephritis	9.8
24	immune-complex glomerulonephritis	9.8
25	pneumonia	9.8
26	lupus erythematosus	9.8
27	hypoxia	9.8
28	pneumococcal meningitis	9.8

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

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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

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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

Skin, T Cells, Spinal Cord

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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 )	Zheng Q.Y....Zhang K.Q.	2016
2	Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. ( 23117396 )	Miller EC...Atkinson JP	2012
3	Compound heterozygous complement C3 deficiency. ( 7890305 )	Katz Y...Fishelson Z	1995

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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	34.37	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	C3AR1	Complement C3a Receptor 1	Protein Coding	15.83	DISEASES inferred ¹⁵
3	C5AR2	Complement Component 5a Receptor 2	Protein Coding	15.82	DISEASES inferred ¹⁵
4	CFP	Complement Factor Properdin	Protein Coding	15.65	DISEASES inferred ¹⁵
5	MBNL3	Muscleblind Like Splicing Regulator 3	Protein Coding	15.56	DISEASES inferred ¹⁵
6	S100B	S100 Calcium Binding Protein B	Protein Coding	14.99	DISEASES inferred ¹⁵
7	CFI	Complement Factor I	Protein Coding	14.93	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	13.39	C3 C3AR1 C5AR2 CFI CFP S100B
2	Complement and coagulation cascades ¹ ³⁷	11.58	C3 C3AR1 CFI
3	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	11.42	C3 C3AR1 C5AR2 CFI
4	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	11.39	C3 CFP
5	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	11.15	C3 C3AR1 C5AR2 CFI CFP
6	Staphylococcus aureus infection ³⁷	11.08	C3 C3AR1 CFI

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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:

#	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

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Sources for Complement Component 3 Deficiency

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