MCID: CMP009
MIFTS: 43

Complement Deficiency

Categories: Immune diseases

Aliases & Classifications for Complement Deficiency

MalaCards integrated aliases for Complement Deficiency:

Name: Complement Deficiency 12 55 15
Complement Deficiency Disease 12 73

Classifications:



External Ids:

Disease Ontology 12 DOID:626
ICD10 33 D80-D89 D84.1
NCIt 50 C4691
SNOMED-CT 68 24743004
UMLS 73 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 classical component pathway complement deficiency and immunodeficiency due to a late component of 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 Influenza A. 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 : 76 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 67)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency due to a classical component pathway complement deficiency 33.3 C2 C4A
2 immunodeficiency due to a late component of complement deficiency 33.3 C5 C7
3 complement factor i deficiency 31.7 C3 CFP
4 hemolytic uremic syndrome, atypical 1 30.9 C3 C5 CD46 CFH CFP
5 lupus erythematosus 30.3 C2 C3 C4A
6 neisseria meningitidis infection 30.0 C3 CD46 CFP MBL2
7 meningococcemia 29.9 CFP MBL2
8 systemic lupus erythematosus 29.6 C2 C3 C4A C5 CFH MBL2
9 iga glomerulonephritis 29.4 CFP MBL2
10 meningococcal meningitis 29.3 C7 CFH CFP MBL2
11 glomerulonephritis 29.3 C3 C4A CD46 CFH CFP
12 lipodystrophy, partial, acquired 11.0
13 c1 inhibitor deficiency 11.0
14 c3 glomerulopathy 10.2 C3 CFP
15 complement component 3 deficiency 10.2 C3 CFP
16 scabies 10.2 CFP MBL2
17 mannose-binding lectin deficiency 10.2 CFP MBL2
18 complement component 5 deficiency 10.2 C5 CFP
19 pneumococcal meningitis 10.2 C3 C5
20 streptococcal meningitis 10.2 CFP MBL2
21 acute poststreptococcal glomerulonephritis 10.2 C5 CFP
22 3mc syndrome 10.2 CFP MBL2
23 pediatric systemic lupus erythematosus 10.1 C3 C4A
24 hypersensitivity vasculitis 10.1 C3 C4A
25 immunoglobulin alpha deficiency 10.1 C4A MBL2
26 hypersensitivity reaction type iii disease 10.1 C3 C4A
27 proliferative glomerulonephritis 10.1 C3 CFH
28 autoimmune disease of musculoskeletal system 10.1 C3 C4A
29 adult respiratory distress syndrome 10.1 C4A C5
30 hemoglobinuria 10.1 C3 C5
31 afibrinogenemia 10.0 C3 CD46 CFP
32 degeneration of macula and posterior pole 10.0 C3 CFH
33 acquired angioedema 10.0 C3 SERPING1
34 meningococcal infection 10.0
35 complement factor h deficiency 10.0 CD46 CFH
36 dense deposit disease 10.0 C3 C5 CFH
37 lyme disease 10.0 C3 CFH
38 meningitis 10.0
39 thrombotic thrombocytopenic purpura 9.9 CD46 CFH
40 retinal drusen 9.9 C2 C3 CFH
41 enterocolitis 9.9 C3 CD46 CFH
42 hemolytic-uremic syndrome 9.9 C3 CD46 CFH
43 autoimmune disease 9.9
44 autoimmune disease 1 9.8
45 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
46 systemic lupus erythematosus 16 9.8
47 acute liver failure 9.8
48 hereditary angioedema 9.8
49 panniculitis 9.8
50 immune deficiency disease 9.7 CFH SERPING1

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:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.64 C4A MBL2 SERPING1
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 C4A SERPING1
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 9.61 LIF
19 Decreased viability GR00381-A-1 9.61 C2 LIF
20 Decreased viability GR00381-A-2 9.61 C2 LIF
21 Decreased viability GR00381-A-3 9.61 C2 LIF
22 Decreased viability GR00402-S-2 9.61 C2 LIF

MGI Mouse Phenotypes related to Complement Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 C3 C5 CD46 CFH CFP LIF

Drugs & Therapeutics for Complement Deficiency

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactitol Investigational Phase 3 585-86-4 3871
2 Complement System Proteins Phase 3,Not Applicable
3 Immunologic Factors Phase 3,Not Applicable
4 Vaccines Phase 3
5 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
6
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
7
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
8
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
9
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
10
Etoposide Approved Not Applicable 33419-42-0 36462
11
Methotrexate Approved Not Applicable 59-05-2, 1959-05-2 126941
12
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
13
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
14
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
15
leucovorin Approved Not Applicable 58-05-9 6006 143
16
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
17
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
18
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
19 Neuroprotective Agents Not Applicable
20 Autonomic Agents Not Applicable
21 Antilymphocyte Serum Not Applicable
22 Antineoplastic Agents, Phytogenic Not Applicable
23 Immunosuppressive Agents Not Applicable
24 Protective Agents Not Applicable
25 Antimetabolites, Antineoplastic Not Applicable
26 Prednisolone acetate Not Applicable
27 Calcineurin Inhibitors Not Applicable
28 Antiemetics Not Applicable
29 Folic Acid Antagonists Not Applicable
30 Peripheral Nervous System Agents Not Applicable
31 Gastrointestinal Agents Not Applicable
32 Alkylating Agents Not Applicable
33 Vitamin B Complex Not Applicable
34 Hormone Antagonists Not Applicable
35 glucocorticoids Not Applicable
36 Vitamin B9 Not Applicable
37 Dermatologic Agents Not Applicable
38 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
39 Antineoplastic Agents, Alkylating Not Applicable
40 Methylprednisolone acetate Not Applicable
41 Folate Not Applicable
42 Anti-Infective Agents Not Applicable
43 Anti-Inflammatory Agents Not Applicable
44 Antineoplastic Agents, Hormonal Not Applicable
45 Hormones Not Applicable
46 Etoposide phosphate Not Applicable
47 Antifungal Agents Not Applicable
48 Topoisomerase Inhibitors Not Applicable
49 Antimetabolites Not Applicable
50 Nucleic Acid Synthesis Inhibitors Not Applicable

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 Not Applicable
4 Autophagy in Systemic Lupus Erythematosus Not yet recruiting NCT03583853
5 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable 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:

41
Liver, Bone, Bone Marrow, Neutrophil, T Cells

Publications for Complement Deficiency

Articles related to Complement Deficiency:

(show top 50) (show all 112)
# Title Authors Year
1
Complement deficiency in pediatric-onset systemic lupus erythematosus. ( 29692593 )
2018
2
Can Cell Bound Complement Activation Products Predict Inherited Complement Deficiency in Systemic Lupus Erythematosus? ( 28074166 )
2016
3
Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients. ( 27175654 )
2016
4
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
5
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 26385745 )
2015
6
Complement deficiency promotes cutaneous wound healing in mice. ( 25548229 )
2015
7
Intranasal peptide-induced tolerance and linked suppression: consequences of complement deficiency. ( 25039245 )
2014
8
Post-vaccine glomerulonephritis in an infant with hereditary C2 complement deficiency: case study. ( 24382852 )
2013
9
C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review. ( 23371790 )
2013
10
Complement deficiency states and associated infections. ( 21624663 )
2011
11
Murine complement deficiency ameliorates acute cigarette smoke-induced nasal damage. ( 20620635 )
2010
12
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 19910391 )
2010
13
Complement deficiency and disease. ( 18495794 )
2008
14
Complement deficiency and systemic lupus erythematosus: consensus and dilemma. ( 20476965 )
2008
15
Hereditary complement deficiency and lupus: report of four Tunisian cases. ( 17893986 )
2007
16
Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. ( 17890276 )
2007
17
Meningococcal disease associated with an acute post-streptococcal complement deficiency. ( 17294226 )
2007
18
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
19
Complement deficiency and disease: an update. ( 16026838 )
2006
20
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
21
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. ( 15488949 )
2005
22
Clinical and laboratory evaluation of complement deficiency. ( 15100659 )
2004
23
Pneumococcal psoas pyomyositis associated with complement deficiency. ( 15071302 )
2004
24
Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy. ( 12755933 )
2003
25
Two related cases of primary complement deficiency. ( 14603997 )
2003
26
Systemic meningococcal infection and complement deficiency. ( 12913784 )
2003
27
Rheumatic syndromes associated with complement deficiency. ( 12496511 )
2003
28
Complement deficiency ameliorates collagen-induced arthritis in mice. ( 12077276 )
2002
29
C7 complement deficiency in an Israeli Arab village. ( 12116267 )
2002
30
Investigation for complement deficiency following meningococcal disease. ( 11861251 )
2002
31
IgA nephropathy with complement deficiency. ( 11201372 )
2001
32
Links between complement deficiency and apoptosis. ( 11438036 )
2001
33
Animal models of inherited complement deficiency. ( 11471455 )
2001
34
Systemic lupus erythematosus, complement deficiency, and apoptosis. ( 11079100 )
2000
35
Pyoderma gangrenosum in a patient with autoimmune haemolytic anaemia and complement deficiency. ( 10886151 )
2000
36
Screening for complement deficiency. ( 10857109 )
2000
37
Is acute hemorrhagic edema of infancy a complement deficiency state? ( 10959754 )
2000
38
Apoptosis and autoimmunity: complement deficiency and systemic lupus erythematosus revisited. ( 11123037 )
2000
39
Complement deficiency. ( 11107496 )
2000
40
Complement deficiency states, disease susceptibility, and infection risk in systemic lupus erythematosus. ( 10524672 )
1999
41
Assessment of complement deficiency in patients with meningococcal disease in The Netherlands. ( 10028078 )
1999
42
Systemic lupus erythematosus and complement deficiency: clues to a novel role for the classical complement pathway in the maintenance of immune tolerance. ( 10408365 )
1999
43
Generalized lupus panniculitis and antiphospholipid syndrome in a patient without complement deficiency. ( 10469410 )
1999
44
C1q knock-out mice for the study of complement deficiency in autoimmune disease. ( 10072632 )
1998
45
Complement deficiency and autoimmunity. ( 9848020 )
1998
46
Screening for complement deficiency in bacterial meningitis. ( 9343286 )
1997
47
Complement deficiency and autoimmunity. ( 9186664 )
1997
48
C1q binds directly and specifically to surface blebs of apoptotic human keratinocytes: complement deficiency and systemic lupus erythematosus revisited. ( 9144462 )
1997
49
Heterozygous C8beta complement deficiency does not predispose to meningococcal disease. ( 9182898 )
1997
50
Inherited complement deficiency in children surviving fulminant meningococcal septic shock. ( 8582425 )
1995

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 9.76 C2 C3 C4A C5 C7 CD46
2 extracellular space GO:0005615 9.61 C2 C3 C4A C5 CFH CFP
3 blood microparticle GO:0072562 9.56 C3 C4A CFH SERPING1
4 endoplasmic reticulum lumen GO:0005788 9.54 C3 C4A CFP
5 membrane attack complex GO:0005579 9.32 C5 C7
6 extracellular region GO:0005576 9.32 C2 C3 C4A C5 C7 CFH

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.88 C3 C4A C5 CD46 MBL2 SERPING1
2 complement activation, classical pathway GO:0006958 9.86 C2 C3 C4A C5 C7 CD46
3 proteolysis GO:0006508 9.85 C2 C3 C4A CFP MBL2
4 innate immune response GO:0045087 9.85 C2 C3 C4A C5 C7 CD46
5 immune response GO:0006955 9.8 C3 C7 CFP LIF
6 negative regulation of endopeptidase activity GO:0010951 9.73 C3 C4A C5 SERPING1
7 complement activation, alternative pathway GO:0006957 9.72 C3 C5 C7 CFH CFP
8 regulation of complement activation GO:0030449 9.61 C2 C3 C4A C5 C7 CD46
9 positive regulation of apoptotic cell clearance GO:2000427 9.54 C2 C3 C4A
10 positive regulation of phagocytosis GO:0050766 9.52 C3 MBL2
11 positive regulation of vascular endothelial growth factor production GO:0010575 9.51 C3 C5
12 cytolysis GO:0019835 9.48 C5 C7
13 complement activation GO:0006956 9.23 C2 C3 C4A C5 C7 CFH

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.46 C3 C5 LIF MBL2
2 endopeptidase inhibitor activity GO:0004866 9.13 C3 C4A C5
3 serine-type endopeptidase activity GO:0004252 9.02 C2 C3 C4A CFP MBL2

Sources for Complement 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
Content
Loading form....