Complement Deficiency malady

Disease Ontology: A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.⁶

MalaCards: Complement Deficiency, also known as complement deficiency disease (disorder), is related to lupus erythematosus and mesangial proliferative glomerulonephritis. An important gene associated with Complement Deficiency is CFP (complement factor properdin), and among its related pathways are Alternative Complement Pathway and Activation of C3 and C5. The compounds Ibritumomab and mannan have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotype homeostasis/metabolism.

Wikipedia: Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the...⁴⁴ more...

Aliases & Descriptions:

complement deficiency 6 8 32 complement deficiency disease (disorder) 6

complement deficiency disease 43

Diseases related to complement deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 101)

id	Related Disease	Score	Top Affiliating Genes
1	lupus erythematosus	20.2	C4B, C7, C5, C5AR1, C3, C4A
2	mesangial proliferative glomerulonephritis	13.4	LIF, MBL2
3	retinal drusen	13.3	C2, C3
4	immunoglobulin alpha deficiency	13.3	MBL2, C4A
5	meningococcemia	13.3	LIF, CFP
6	complement factor i deficiency	13.3	CFP, CFI
7	herpes gestationis	13.3	CFP, C4A
8	c4 deficiency	13.2	C4B, C4A
9	atypical hemolytic-uremic syndrome	13.2	CFI, C3
10	hand, foot and mouth disease	13.2	C4A, C4B
11	membranoproliferative glomerulonephritis type 2	13.2	CFP, C4A, C3
12	capillary leak syndrome	13.1	C3, C4A, C1S
13	felty's syndrome	13.1	C4B, C4A
14	neisseria meningitidis infection	13.1	C3, ROM1, MBL2, CFP
15	collagen disease	13.0	MBL2, APOH
16	purpura fulminans	13.0	C1S, APOH
17	iga glomerulonephritis	12.9	CFP, MBL2, C4A, C3
18	bacterial meningitis	12.9	CR1, MBL2, CFP
19	acute poststreptococcal glomerulonephritis	12.9	C5, CFP
20	complement component 5 deficiency	12.9	C5AR1, C5
21	afibrinogenemia	12.9	CFI, CR1
22	contact dermatitis	12.9	C4B, C1R, LIF
23	plasmodium falciparum malaria	12.9	CR1, MBL2, LIF
24	juvenile rheumatoid arthritis	12.8	C4B, C4A, MBL2
25	hereditary angioedema	12.8	C4B, C1S, CR1
26	sle susceptibility	12.7	C4B, C4A, CR1
27	sudden infant death syndrome	12.7	MBL2, C4A, C4B
28	meningococcal infection	12.7	ROM1, C7, CFP
29	autoimmune hemolytic anemia	12.6	APOH, CR1, C1S
30	adult respiratory distress syndrome	12.5	C5AR1, C5, C4A
31	pemphigus	12.5	MBL2, C5, C3
32	retinal disease	12.5	APOH, C2, ROM1
33	protein s deficiency	12.4	APOH, MBL2, C4A, C4B
34	bronchial asthma	12.4	C3, C5AR1, C5, MBL2
35	thrombocytopenia	12.4	C3, MBL2, APOH, CFI
36	nephrotic syndrome	12.4	C3, APOH, CFP, CFI
37	proteinuria	12.4	CFP, APOH, CR1, C3
38	factor v leiden thrombophilia	12.3	C5AR1, CR1, CFP, LIF
39	pulmonary tuberculosis	12.3	C3, C5AR1, CR1, MBL2
40	endometriosis	12.3	C3, C5, MBL2, CFI, LIF
41	urticaria	12.3	C1S, C1R, C5AR1
42	hydrops of gallbladder	12.2	MBL2, CR1, C1S, C5AR1
43	infertility	12.2	C3, C5, MBL2, CFI, LIF
44	immunodeficiency	12.2	APOH, MBL2, CR1, C4B
45	cystic fibrosis	12.2	C3, C1S, CR1, MBL2, CFP
46	choroiditis	12.1	CFP, C2, C5, C5AR1, C3
47	acquired immunodeficiency syndrome	12.1	C5AR1, CR1, CFP, CFI
48	encephalomyelitis	12.1	C3, C5AR1, C5, CR1
49	thrombosis	12.1	CFP, APOH, MBL2, C1S, C5, C3
50	cadasil	12.0	LIF, APOH, C4B, C5AR1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to complement deficiency:

²²

MGI Mouse Phenotypes related to complement deficiency:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism phenotype	MP:0005376	6.9	LIF, CFI, CFP, APOH, MBL2, C4B

Articles related to complement deficiency:

(show all 14)

id	Title	Authors	Year	Affiliating Genes
1	Clinical significance of complement deficiencies. (19758139)	Pettigrew H.D.... Gershwin M.E.	2009	MBL2, CFI
2	Inherited complement deficiencies and bacterial infections. (19388157)	Tedesco F.	2008	CFI, CFP
3	Meningococcal disease associated with an acute post-streptococcal complement deficiency. (17294226)	Daskas N.... Erlewyn-Lajeunesse M.	2007	MBL2, CFP
4	Which complement assays and typings are necessary for the diagnosis of complement deficiency in patients with lupus erythematosus? A study of 25 patients. (16987709)	Boeckler P.... Lipsker D.	2006	C3, C4A
5	C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. (15488949)	Delgado-Cervino E.... Lopez-Trascasa M.	2005	C5
6	Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy. (12755933)	Litzman J.... Lokaj J.	2003	C2
7	The role of Fcgamma receptor polymorphisms and C3 in the immune defence against Neisseria meningitidis in complement-deficient individuals. (10792385)	Fijen C.A.... De Winkel J.G.	2000	CFP
8	Protection against meningococcal serogroup ACYW disease in complement-deficient individuals vaccinated with the tetravalent meningococcal capsular polysaccharide vaccine. (9844044)	Fijen C.A.... Dankert J.	1998	C3, CFP
9	Low prevalence of complement deficiencies among patients with meningococcal disease in Norway. (8469932)	Hogasen K.... Bjune G.	1993	CFP
10	New procedure for the detection of complement deficiency by ELISA. Analysis of activation pathways and circumvention of rheumatoid factor influence. (8288879)	Fredrikson G.N.... Sjoholm A.G.	1993	CFP
11	Autoimmune diseases in pediatric. Complement deficie ncies and anticardiolipin syndromes. Genetic complement deficiencies and autoim mune diseases (1449367)	Hauptmann G.	1992	APOH
12	Antibodies to meningococcal class 1 outer membrane pr oteins in South African complement-deficient and complement-sufficient subjects . (1398965)	Orren A.... Poolman J.T.	1992	ROM1
13	Deficiency of mannan binding protein--a new complement deficiency syndrome. (1934604)	Turner M.W.	1991	MBL2
14	Inherited complement deficiency states: implications for immunity and immunological disease. (2147105)	SjAPholm A.G.	1990	CFP

Genes related to complement deficiency according to GeneCards:

(show all 17)

id	Symbol	Description	Score	GeneCards Section Context
1	CFP	complement factor properdin	11.0	Publications
2	LIF	leukemia inhibitory factor	11.0
3	MBL2	mannose-binding lectin (protein C) 2, soluble	11.0	Publications
4	C3	complement component 3	11.0	Publications
5	ROM1	retinal outer segment membrane protein 1	11.0	Publications
6	LMNB2	lamin B2	11.0
7	C1R	complement component 1, r subcomponent	11.0
8	C4A	complement component 4A (Rodgers blood group)	11.0	Publications
9	CFI	complement factor I	11.0	Publications
10	C1S	complement component 1, s subcomponent	11.0
11	C2	complement component 2	11.0	Publications
12	C5	complement component 5	11.0	Publications
13	C4B	complement component 4B (Chido blood group)	11.0
14	C7	complement component 7	11.0
15	C5AR1	complement component 5a receptor 1	11.0
16	APOH	apolipoprotein H (beta-2-glycoprotein I)	11.0	Publications
17	CR1	complement component (3b/4b) receptor 1 (Knops blood group)	11.0

Pathways related to complement deficiency according to GeneDecks:

(show all 16)

id	Pathway	Score	Top Affiliating Genes
1	Alternative Complement Pathway36	9.3	C7, C5, C3
2	Activation of C3 and C538	8.8	C4B, C4A, C2, CFP
3	Lectin Induced Complement Pathway36	8.5	C3, C5, C7, C4A, C2, MBL2
4	Complement cascade38	8.3	C7, C1R, C1S, CR1, MBL2, CFI
5	Classical Complement Pathway36	8.3	C1S, C1R, C2, C4A, C7, C5
6	Complement Pathway36	8.1	MBL2, C1S, C1R, C2, C4A, C7
7	Pertussis20	8.0	C3, C5, C4B, C4A, C2, C1R
8	Immune response_Alternative complement pathway41	7.9	C5, C5AR1, C3, C7, CR1, CFP
9	Immune response Alternative complement pathway10	7.9	CFI, CFP, CR1, C7, C5, C5AR1
10	Systemic lupus erythematosus20	7.5	C3, C5, C7, C4B, C4A, C2
11	Staphylococcus aureus infection20	7.0	C1S, C1R, C2, C4A, C4B, C5
12	Immune response_Lectin induced complement pathway41	7.0	C4B, C7, C5, C5AR1, C4A, C2
13	Immune response Lectin Induced complement pathway10	6.8	CR1, C2, C4A, C4B, C7, C5
14	Immune response Classic complement pathway10	6.3	CR1, C1S, C1R, C2, C4A, C4B
15	Immune response_Classical complement pathway41	6.3	CFI, CR1, C1S, C1R, C2, C4A
16	Complement and coagulation cascades20	6.1	CFI, C3, C5AR1, MBL2, CR1, C1S

Compounds related to complement deficiency according to GeneDecks:

(show all 34)

id	Compound	Score	Top Affiliating Genes
1	Ibritumomab9 9	11.0	C1R, C1S
2	mannan32	9.9	CFP, MBL2, CR1
3	gemtuzumab ozogamicin32 9 9	11.8	C1S, C1R
4	Muromonab9 9	10.7	C1S, C1R
5	basiliximab32 9 9	11.5	C1S, C1R
6	Intravenous Immunoglobulin9 9	10.5	C3, C5, C4B, C4A
7	Alpha-D-Mannose9 9	10.4	C1R, MBL2, APOH
8	polysaccharide32	9.4	C3, CR1, MBL2, CFP, LIF
9	nacl32	9.4	LIF, CFI, MBL2, C5AR1
10	etanercept32 9 9	11.3	C1R, C1S, APOH
11	rituximab32 34 9 9	12.2	APOH, C1S, C1R
12	kininogen32	9.2	C1S, APOH, CFI
13	methionine32	9.2	LIF, CFI, CR1, C5
14	thromboxane a232 18	10.0	C5AR1, APOH, LIF
15	heparin32 9 18 9	11.8	C5AR1, C4B, CR1, CFP, LIF
16	cysteine32	8.8	C3, C5AR1, ROM1, MBL2, CFP, LIF
17	latex32	8.7	C1S, CR1, MBL2, APOH, LIF
18	cholesterol32 9 18 9	11.7	C3, ROM1, MBL2, APOH, CFI, LIF
19	prednisolone32 9 9	10.6	C5AR1, CR1, MBL2, APOH
20	anaphylatoxin32	8.6	CFP, CR1, C4A, C5, C5AR1, C3
21	txb232	8.6	C5AR1, C4A, C1S, APOH, LIF
22	steroid32	8.5	C3, C4B, C4A, MBL2, APOH, LIF
23	mannose32	8.5	C3, C1S, CR1, MBL2, APOH, CFP
24	creatinine32	8.4	C3, C5AR1, MBL2, APOH, CFI, LIF
25	endotoxin32	8.4	C5AR1, C4A, CR1, APOH, LIF
26	ethanol32 34 9 18 9	12.3	APOH, MBL2, CR1, C5AR1
27	phospholipid32	8.3	C3, C5AR1, CR1, APOH
28	superoxide32 18	9.2	C5AR1, CR1, MBL2, APOH, CFP, LIF
29	fibrinogen32	8.1	C3, C5AR1, C1S, MBL2, APOH, CFI
30	agarose32	8.0	C3, C5AR1, C4B, C4A, MBL2, APOH
31	nitric oxide32 9 18 9	11.0	C5AR1, C1S, CR1, MBL2, APOH, LIF
32	oxygen32 18	8.8	C3, C5AR1, C4A, CR1, MBL2, APOH
33	serine32	7.2	C3, C5AR1, C4B, C4A, C2, C1R
34	calcium32 9 18 9	9.9	C5AR1, C4B, C1R, C1S, CR1, MBL2

Cellular components related to complement deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	membrane attack complex	GO:005579	9.5	C7, C5
2	extracellular space	GO:005615	6.8	LIF, C3, C5, C4B, C4A, C2
3	extracellular region	GO:005576	6.5	C3, C5, C7, C4B, C4A, C2

Biological processes related to complement deficiency according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of phagocytosis	GO:050766	9.9	C3, MBL2
2	cytolysis	GO:019835	9.5	C7, C5
3	positive regulation vascular endothelial growth factor production	GO:010575	9.5	C5, C3
4	complement activation, alternative pathway	GO:006957	9.2	C3, C5, C7, CFP
5	inflammatory response	GO:006954	9.1	C4A, C4B, C5, C3
6	immune response	GO:006955	9.0	C3, C5AR1, C1R, CFP, LIF
7	regulation of complement activation	GO:030449	8.3	C3, C4B, C4A, C2, CR1, CFP
8	complement activation	GO:006956	7.3	C4A, C2, C1R, C1S, MBL2, CFP
9	complement activation, classical pathway	GO:006958	6.6	C3, C5, C7, C4B, C4A, C2
10	innate immune response	GO:045087	6.4	C4A, C2, C1R, C1S, CR1, MBL2

Molecular functions related to complement deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	receptor binding	GO:005102	9.4	LIF, MBL2, C5, C3
2	endopeptidase inhibitor activity	GO:004866	8.8	C4A, C4B, C5, C3