MCID: CMP009
MIFTS: 41

Complement Deficiency

Categories: Immune diseases

Aliases & Classifications for Complement Deficiency

MalaCards integrated aliases for Complement Deficiency:

Name: Complement Deficiency 12 51 14
Complement Deficiency Disease 12 69

Classifications:



External Ids:

Disease Ontology 12 DOID:626
ICD10 32 D80-D89 D84.1
NCIt 46 C4691
SNOMED-CT 64 191014008 24743004
UMLS 69 C0272242

Summaries for Complement Deficiency

Disease Ontology : 12 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.

MalaCards based summary : Complement Deficiency, also known as complement deficiency disease, is related to immunodeficiency due to a late component of complement deficiency and immunodeficiency due to a classical component pathway complement deficiency. An important gene associated with Complement Deficiency is CFP (Complement Factor Properdin), and among its related pathways/superpathways are Innate Immune System and Creation of C4 and C2 activators. The drugs Lactitol and Complement System Proteins have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the... more...

Related Diseases for Complement Deficiency

Diseases related to Complement Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency due to a late component of complement deficiency 33.0 C5 C7
2 immunodeficiency due to a classical component pathway complement deficiency 32.7 C2 C4A
3 meningococcemia 29.8 CFP MBL2
4 hypersensitivity reaction type iii disease 29.7 C3 C4A
5 glomerulonephritis 29.5 C3 C4A CFP
6 lupus erythematosus 29.4 C2 C3 C4A
7 meningococcal meningitis 29.3 C7 CFP MBL2
8 systemic lupus erythematosus 28.6 C2 C3 C4A C5 MBL2
9 lipodystrophy, partial, acquired 10.8
10 c1 inhibitor deficiency 10.8
11 c3 glomerulopathy 10.4 C3 CFP
12 complement component 3 deficiency 10.3 C3 CFP
13 complement factor i deficiency 10.3 C3 CFP
14 mannose-binding lectin deficiency 10.3 CFP MBL2
15 complement component 5 deficiency 10.3 C5 CFP
16 dense deposit disease 10.3 C3 C5
17 acute poststreptococcal glomerulonephritis 10.3 C5 CFP
18 3mc syndrome 10.2 CFP MBL2
19 acquired angioedema 10.2 C3 SERPING1
20 streptococcal meningitis 10.2 CFP MBL2
21 pediatric systemic lupus erythematosus 10.2 C3 C4A
22 hypersensitivity vasculitis 10.1 C3 C4A
23 afibrinogenemia 10.1 C3 CFP
24 immunoglobulin alpha deficiency 10.1 C4A MBL2
25 neisseria meningitidis infection 10.1 C3 CFP MBL2
26 herpes gestationis 10.1 C4A CFP
27 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
28 membranoproliferative glomerulonephritis 10.0 C3 C4A CFP
29 iga glomerulonephritis 10.0 C4A CFP MBL2
30 retinal drusen 10.0 C2 C3
31 hemoglobinuria 10.0 C3 C5
32 adult respiratory distress syndrome 9.9 C4A C5
33 hereditary angioedema 9.9 C4A SERPING1
34 meningitis 9.8
35 hemolytic-uremic syndrome 9.8 C3 C5
36 hepatitis 9.8
37 meningococcal infection 9.8
38 autoimmune disease 9.7
39 autoimmune disease 1 9.7
40 systemic lupus erythematosus 16 9.6
41 hydrops, lactic acidosis, and sideroblastic anemia 9.5
42 arthritis 9.5
43 cutaneous lupus erythematosus 9.5
44 nephrotic syndrome 9.5
45 panniculitis 9.5
46 pyoderma 9.5
47 peritonitis 9.5
48 pyoderma gangrenosum 9.5
49 pyomyositis 9.5
50 bacterial meningitis 9.5

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



Diseases related to Complement Deficiency

Symptoms & Phenotypes for Complement Deficiency

GenomeRNAi Phenotypes related to Complement Deficiency according to GeneCards Suite gene sharing:

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.64 MBL2 SERPING1 C4A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.64 C4A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.64 MBL2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.64 C4A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.64 C4A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.64 C4A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.64 MBL2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 MBL2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.64 SERPING1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.64 MBL2 SERPING1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 SERPING1 C4A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.64 SERPING1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.64 SERPING1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 SERPING1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.64 MBL2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.64 C4A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.64 C4A
18 Decreased viability GR00240-S-1 9.5 LIF
19 Decreased viability GR00381-A-1 9.5 C2 LIF
20 Decreased viability GR00381-A-2 9.5 C2 LIF
21 Decreased viability GR00381-A-3 9.5 C2 LIF

Drugs & Therapeutics for Complement Deficiency

Drugs for Complement Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactitol Investigational Phase 3 585-86-4 3871
2 Complement System Proteins Phase 3
3 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
4 Vaccines Phase 3
5
Etoposide Approved 33419-42-0 36462
6
Methotrexate Approved 1959-05-2, 59-05-2 126941
7
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
8
Busulfan Approved, Investigational 55-98-1 2478
9
Prednisolone Approved, Vet_approved 50-24-8 5755
10
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
11
Methylprednisolone Approved, Vet_approved 83-43-2 6741
12
Prednisone Approved, Vet_approved 53-03-2 5865
13
leucovorin Approved, Nutraceutical 58-05-9 143 6006
14
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
15 Prednisolone acetate
16 Alkylating Agents
17 glucocorticoids
18 Methylprednisolone acetate
19 Methylprednisolone Hemisuccinate
20 Folic Acid Antagonists
21 Gastrointestinal Agents
22 Neuroprotective Agents
23 Topoisomerase Inhibitors
24 Cyclosporins
25 Nucleic Acid Synthesis Inhibitors
26 Hormone Antagonists
27 Dermatologic Agents
28 Vitamin B Complex
29 Hormones
30 Hormones, Hormone Substitutes, and Hormone Antagonists
31 Peripheral Nervous System Agents
32 Antiemetics
33 Anti-Infective Agents
34 Antifungal Agents
35 Etoposide phosphate
36 Antilymphocyte Serum
37 Prednisolone hemisuccinate
38 Immunosuppressive Agents
39 Prednisolone phosphate
40 Antimetabolites
41 Anti-Inflammatory Agents
42 Antimetabolites, Antineoplastic
43 Protective Agents
44 Antineoplastic Agents, Hormonal
45 Antineoplastic Agents, Phytogenic
46 Autonomic Agents
47 Antirheumatic Agents
48 Calcineurin Inhibitors
49 Folate Nutraceutical
50 Vitamin B9 Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Immunogenicity of Novartis Meningococcal B Vaccine When Administered to Immunocompromised Children and Adolescents Compared to Healthy Subjects. Completed NCT02141516 Phase 3
2 Immunogenicity and Safety Study of GlaxoSmithKline (GSK) Biologicals' Pneumococcal Vaccine (Synflorix™) When Administered to Children Who Are at an Increased Risk of Pneumococcal Infection Completed NCT01746108 Phase 3
3 Systematic Search for Primary Immunodeficiency in Adults With Infections Recruiting NCT02972281
4 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Complement Deficiency

Genetic Tests for Complement Deficiency

Anatomical Context for Complement Deficiency

MalaCards organs/tissues related to Complement Deficiency:

38
Liver, Bone, Bone Marrow, Neutrophil

Publications for Complement Deficiency

Articles related to Complement Deficiency:

(show top 50) (show all 114)
# Title Authors Year
1
Can Cell Bound Complement Activation Products Predict Inherited Complement Deficiency in Systemic Lupus Erythematosus? ( 28074166 )
2016
2
Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients. ( 27175654 )
2016
3
European Union funded project on the development of a whole complement deficiency screening ELISA-A story of success and an exceptional manager: Mohamed R. Daha. ( 26006049 )
2015
4
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 26385745 )
2015
5
Complement deficiency promotes cutaneous wound healing in mice. ( 25548229 )
2015
6
Intranasal peptide-induced tolerance and linked suppression: consequences of complement deficiency. ( 25039245 )
2014
7
Post-vaccine glomerulonephritis in an infant with hereditary C2 complement deficiency: case study. ( 24382852 )
2013
8
C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review. ( 23371790 )
2013
9
Complement deficiency states and associated infections. ( 21624663 )
2011
10
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 19910391 )
2010
11
Murine complement deficiency ameliorates acute cigarette smoke-induced nasal damage. ( 20620635 )
2010
12
Clinical significance of complement deficiencies. ( 19758139 )
2009
13
Complement deficiency and systemic lupus erythematosus: consensus and dilemma. ( 20476965 )
2008
14
Complement deficiency and disease. ( 18495794 )
2008
15
Inherited complement deficiencies and bacterial infections. ( 19388157 )
2008
16
Hereditary complement deficiency and lupus: report of four Tunisian cases. ( 17893986 )
2007
17
Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. ( 17890276 )
2007
18
Meningococcal disease associated with an acute post-streptococcal complement deficiency. ( 17294226 )
2007
19
Which complement assays and typings are necessary for the diagnosis of complement deficiency in patients with lupus erythematosus? A study of 25 patients. ( 16987709 )
2006
20
Complement deficiency and disease: an update. ( 16026838 )
2006
21
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. ( 15488949 )
2005
22
The combination of complement deficiency and cigarette smoking as risk factor for cutaneous lupus erythematosus in men; a focus on combined C2/C4 deficiency. ( 15727637 )
2005
23
Pneumococcal psoas pyomyositis associated with complement deficiency. ( 15071302 )
2004
24
Clinical and laboratory evaluation of complement deficiency. ( 15100659 )
2004
25
Systemic meningococcal infection and complement deficiency. ( 12913784 )
2003
26
Two related cases of primary complement deficiency. ( 14603997 )
2003
27
Rheumatic syndromes associated with complement deficiency. ( 12496511 )
2003
28
Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy. ( 12755933 )
2003
29
Complement deficiency ameliorates collagen-induced arthritis in mice. ( 12077276 )
2002
30
C7 complement deficiency in an Israeli Arab village. ( 12116267 )
2002
31
Investigation for complement deficiency following meningococcal disease. ( 11861251 )
2002
32
IgA nephropathy with complement deficiency. ( 11201372 )
2001
33
Links between complement deficiency and apoptosis. ( 11438036 )
2001
34
Animal models of inherited complement deficiency. ( 11471455 )
2001
35
Is acute hemorrhagic edema of infancy a complement deficiency state? ( 10959754 )
2000
36
Complement deficiency. ( 11107496 )
2000
37
The role of Fcgamma receptor polymorphisms and C3 in the immune defence against Neisseria meningitidis in complement-deficient individuals. ( 10792385 )
2000
38
Screening for complement deficiency. ( 10857109 )
2000
39
Apoptosis and autoimmunity: complement deficiency and systemic lupus erythematosus revisited. ( 11123037 )
2000
40
Pyoderma gangrenosum in a patient with autoimmune haemolytic anaemia and complement deficiency. ( 10886151 )
2000
41
Systemic lupus erythematosus, complement deficiency, and apoptosis. ( 11079100 )
2000
42
Assessment of complement deficiency in patients with meningococcal disease in The Netherlands. ( 10028078 )
1999
43
Complement deficiency states, disease susceptibility, and infection risk in systemic lupus erythematosus. ( 10524672 )
1999
44
Systemic lupus erythematosus and complement deficiency: clues to a novel role for the classical complement pathway in the maintenance of immune tolerance. ( 10408365 )
1999
45
Complement deficiency and autoimmunity. ( 9848020 )
1998
46
Protection against meningococcal serogroup ACYW disease in complement-deficient individuals vaccinated with the tetravalent meningococcal capsular polysaccharide vaccine. ( 9844044 )
1998
47
C1q knock-out mice for the study of complement deficiency in autoimmune disease. ( 10072632 )
1998
48
Complement deficiency and autoimmunity. ( 9186664 )
1997
49
Screening for complement deficiency in bacterial meningitis. ( 9343286 )
1997
50
Heterozygous C8beta complement deficiency does not predispose to meningococcal disease. ( 9182898 )
1997

Variations for Complement Deficiency

Expression for Complement Deficiency

Search GEO for disease gene expression data for Complement Deficiency.

Pathways for Complement Deficiency

GO Terms for Complement Deficiency

Cellular components related to Complement Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.85 C2 C3 C4A C5 C7 SERPING1
2 extracellular space GO:0005615 9.56 C2 C3 C4A C5 CFP LIF
3 endoplasmic reticulum lumen GO:0005788 9.5 C3 C4A CFP
4 blood microparticle GO:0072562 9.43 C3 C4A SERPING1
5 extracellular region GO:0005576 9.28 C2 C3 C4A C5 C7 CFP
6 membrane attack complex GO:0005579 9.16 C5 C7

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.86 C2 C3 C4A C5 C7 CFP
2 proteolysis GO:0006508 9.83 C2 C3 C4A MBL2
3 immune system process GO:0002376 9.83 C3 C4A C5 MBL2 SERPING1
4 immune response GO:0006955 9.76 C3 C7 CFP LIF
5 negative regulation of endopeptidase activity GO:0010951 9.71 C3 C4A C5 SERPING1
6 complement activation, classical pathway GO:0006958 9.7 C2 C3 C4A C5 C7 MBL2
7 complement activation, alternative pathway GO:0006957 9.62 C3 C5 C7 CFP
8 positive regulation of apoptotic cell clearance GO:2000427 9.54 C2 C3 C4A
9 positive regulation of phagocytosis GO:0050766 9.51 C3 MBL2
10 regulation of complement activation GO:0030449 9.5 C2 C3 C4A C5 C7 CFP
11 positive regulation of vascular endothelial growth factor production GO:0010575 9.49 C3 C5
12 cytolysis GO:0019835 9.48 C5 C7
13 complement activation GO:0006956 9.17 C2 C3 C4A C5 C7 CFP

Molecular functions related to Complement Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.46 C3 C5 LIF MBL2
2 serine-type endopeptidase activity GO:0004252 9.26 C2 C3 C4A MBL2
3 endopeptidase inhibitor activity GO:0004866 8.8 C3 C4A C5

Sources for Complement Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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