MCID: CMP009
MIFTS: 39

Complement Deficiency malady

Categories: Immune diseases

Aliases & Classifications for Complement Deficiency

Aliases & Descriptions for Complement Deficiency:

Name: Complement Deficiency 12 52 14
Complement Deficiency Disease 12 69

Classifications:



External Ids:

Disease Ontology 12 DOID:626
ICD10 33 D80-D89 D84.1
NCIt 47 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 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 Creation of C4 and C2 activators. The drugs Complement System Proteins and Complement C1 Inactivator Proteins have been mentioned in the context of this disorder. Affiliated tissues include liver and neutrophil, and related phenotype is Increased shRNA abundance (Z-score > 2).

Wikipedia : 71 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 63)
id Related Disease Score Top Affiliating Genes
1 immunodeficiency due to a classical component pathway complement deficiency 11.8
2 immunodeficiency due to a late component of complement deficiency 11.8
3 lipodystrophy, partial, acquired 10.7
4 c1 inhibitor deficiency 10.7
5 pdgfra-associated chronic eosinophilic leukemia 10.2 C3 CFP
6 desmoplastic small round cell tumor 10.2 C3 C5
7 macular degeneration, age-related, 13 10.2 C3 CFP
8 hemochromatosis 10.2 C3 C4A
9 deafness, autosomal dominant 44 10.2 CFP MBL2
10 macular degeneration, age-related, 9 10.2 C3 CFP
11 monosomy 9q22.3 10.2 C3 MBL2
12 haemophilus meningitis 10.2 CFP MBL2
13 rhizomelic chondrodysplasia punctata 10.2 C2 C3
14 intracranial berry aneurysm 10.2 CFP MBL2
15 cyclotropia 10.2 C3 C4A
16 x-linked dominant intellectual disability-epilepsy syndrome 10.2 C3 C4A
17 good syndrome 10.1 C4A MBL2
18 dermatomycosis 10.1 C3 C4A
19 mental retardation hypotonia skin hyperpigmentation 10.1 CFP MBL2
20 labyrinthine bilateral reactive loss 10.1 C1S C4A
21 alcoholic hepatitis 10.1 C4A C5
22 functional gastric disease 10.1 CFP MBL2
23 bronchiolitis 10.1 C3 C4A CFP
24 gout susceptibility 4 10.1 C4A CFP MBL2
25 endometrioid ovary carcinoma 10.1 C3 C5
26 nephropathy familial with hyperuricemia 10.1 C3 CFP MBL2
27 aids dementia complex 10.0 C3 CFP
28 frontal encephalocele 10.0 C1S C2 C4A
29 lupus erythematosus 10.0
30 fibrous histiocytoma 10.0 C3 KNG1
31 ureteral lymphoma 10.0 C4A CFP
32 systemic lupus erythematosus 10.0
33 meesmann corneal dystrophy 10.0 C1S C3 MBL2
34 c4b deficiency 9.9 C2 C4A CFP MBL2
35 arcus senilis 9.9 C3 KNG1
36 lymph node cancer 9.9 KNG1 SERPING1
37 acro coxo mesomelic dysplasia 9.9 C1S C3 SERPING1
38 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.8 C2 C3 SERPING1
39 leukocyte adhesion deficiency, type iii 9.7 C1S KNG1 SERPING1
40 artemis deficiency 9.7 C1S KNG1 SERPING1
41 charcot-marie-tooth disease 2a2b 9.7 C1S KNG1 SERPING1
42 hepatitis 9.7
43 meningitis 9.7
44 meningococcal infection 9.7
45 mechanical ectropion 9.7 C1S KNG1 SERPING1
46 cousin syndrome 9.7 C1S C2 C3 C4A MBL2
47 glomerulonephritis 9.7
48 lymphangioma 9.6 C1S C4A KNG1 SERPING1
49 meningococcal meningitis 9.6
50 meningococcemia 9.6

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
id 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 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 top 50) (show all 120)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement System Proteins Phase 4,Phase 3,Phase 2
2 Complement C1 Inactivator Proteins Phase 4,Phase 2,Phase 3
3 Complement C1 Inhibitor Protein Phase 4,Phase 2,Phase 3
4 Complement C1s Phase 4,Phase 2,Phase 3
5 Complement Inactivating Agents Phase 4,Phase 2,Phase 3
6 Immunoglobulins Phase 4
7 Immunosuppressive Agents Phase 4,Phase 2,Phase 3
8 Antibodies Phase 4
9
Icatibant Approved Phase 3 138614-30-9, 130308-48-4 71364
10
Bradykinin Phase 3 58-82-2 439201
11
Lactitol Phase 3 585-86-4 3871
12 Analgesics Phase 3
13 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
14 Analgesics, Non-Narcotic Phase 3
15 Hormone Antagonists Phase 3
16 Hormones Phase 3
17 Vaccines Phase 3
18 Peripheral Nervous System Agents Phase 3
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
20 Vasodilator Agents Phase 3
21 Pharmaceutical Solutions Phase 2, Phase 3
22 Anti-Inflammatory Agents Phase 3
23 Kininogens Phase 3
24 Anti-Inflammatory Agents, Non-Steroidal Phase 3
25 Antirheumatic Agents Phase 3
26 Bradykinin B2 Receptor Antagonists Phase 3
27 Bradykinin Receptor Antagonists Phase 3
28
Ethanol Approved Phase 2 64-17-5 702
29 Immunoglobulin A Phase 2
30
protease inhibitors Phase 1
31 Serine Proteinase Inhibitors Phase 1
32 Alpha 1-Antitrypsin Phase 1
33 HIV Protease Inhibitors Phase 1
34 Trypsin Inhibitors Phase 1
35 Protein C Phase 1
36 Protein C Inhibitor Phase 1
37 Liver Extracts Phase 1
38 serine Nutraceutical Phase 1
39
Zinc Approved 7440-66-6 32051 23994
40
Iron Approved 7439-89-6 23925
41
Copper Approved 15158-11-9, 7440-50-8 27099
42
Selenium Approved, Vet_approved 7782-49-2
43
Oxaliplatin Approved, Investigational 61825-94-3 5310940 9887054 6857599, 9887054 43805
44
Hydroxocobalamin Approved 13422-51-0 11953898 5460373 44475014
45
Histamine Approved, Investigational 75614-87-8, 51-45-6 774
46
Cyclosporine Approved, Investigational, Vet_approved 79217-60-0, 59865-13-3 5284373 6435893
47
Etoposide Approved 33419-42-0 36462
48
Methotrexate Approved 1959-05-2, 59-05-2 126941
49
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
50
Busulfan Approved, Investigational 55-98-1 2478

Interventional clinical trials:

(show all 31)
id Name Status NCT ID Phase
1 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
2 Safety and Immunogenicity of Novartis Meningococcal B Vaccine When Administered to Immunocompromised Children and Adolescents Compared to Healthy Subjects. Completed NCT02141516 Phase 3
3 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
4 Investigation of a New, Oral Growth Hormone Secretagogue, Macimorelin (AEZS-130) as a Growth Hormone Stimulation Test. Completed NCT00448747 Phase 3
5 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
6 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3
7 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3
8 An Open Label Study of the Effects of Eculizumab in CD59 Deficiency Unknown status NCT01579838 Phase 1, Phase 2
9 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2
10 Kidney Transplant for HIV-Infected Patients in Renal Failure Completed NCT00009009 Phase 2
11 Men Together Making a Difference: Reducing HIV/STD Risk Behavior Among South African Men Completed NCT01490359 Phase 2
12 A Randomized Controlled Trial of the Bruthas Project Completed NCT01270230 Phase 2
13 Efficacy and Safety of Atacicept in IgA Nephropathy Recruiting NCT02808429 Phase 2
14 A Study of ARC-AAT in Healthy Volunteer Subjects and Patients With Alpha-1 Antitrypsin Deficiency (AATD) Terminated NCT02363946 Phase 1
15 Impact of an Antioxidant Alimentary Complement on Sperm Data Unknown status NCT01841034
16 Efferocytosis and Genomic Polymorphism in Autoimmune Diseases Unknown status NCT00364728
17 The Predictive Value of Complement C3 in Patients With Advanced Gastric Cancer Completed NCT02425930
18 Iron Absorption From a Micronutrient Powder Containing Galacto-oligosaccharides (GOS) Completed NCT02666417
19 Evaluation of Lactate Dehydrogenase as Decision Support for Admissions to Neonatal Ward Completed NCT02379936
20 The Paediatric Refill Study (PRefill) Completed NCT02208817
21 Significance of Ficolin 2 in the Determination of Serological Activity in Chronic Inflammatory Bowel Disease Completed NCT01473927
22 Assessment of Attentional Functioning in Children With HIV-1 Infection Completed NCT00001497
23 Systematic Search for Primary Immunodeficiency in Adults With Infections Recruiting NCT02972281
24 Determination of Specific Biomarkers of Angioneurotic Crisis Recruiting NCT02833675
25 Amyotrophic Lateral Sclerosis and the Innate Immune System Recruiting NCT02869048
26 A Study to Evaluate the Performance of a Diagnostic Test in ALS Recruiting NCT02759913
27 The Swedish BioFINDER 2 Study Recruiting NCT03174938
28 Using Mobile Technology and Incentives With Men Who Have Sex With Men and Transgender Women for HIV Prevention Recruiting NCT03144336
29 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
30 NeuroCognitive Communicator: Safety Study Not yet recruiting NCT03100110
31 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054

Search NIH Clinical Center for Complement Deficiency

Genetic Tests for Complement Deficiency

Anatomical Context for Complement Deficiency

MalaCards organs/tissues related to Complement Deficiency:

39
Liver, Neutrophil

Publications for Complement Deficiency

Articles related to Complement Deficiency:

(show top 50) (show all 113)
id 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
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 26385745 )
2015
4
Complement deficiency promotes cutaneous wound healing in mice. ( 25548229 )
2015
5
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
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
Murine complement deficiency ameliorates acute cigarette smoke-induced nasal damage. ( 20620635 )
2010
11
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 19910391 )
2010
12
Clinical significance of complement deficiencies. ( 19758139 )
2009
13
Complement deficiency and disease. ( 18495794 )
2008
14
Complement deficiency and systemic lupus erythematosus: consensus and dilemma. ( 20476965 )
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
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
22
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. ( 15488949 )
2005
23
Clinical and laboratory evaluation of complement deficiency. ( 15100659 )
2004
24
Pneumococcal psoas pyomyositis associated with complement deficiency. ( 15071302 )
2004
25
Two related cases of primary complement deficiency. ( 14603997 )
2003
26
Rheumatic syndromes associated with complement deficiency. ( 12496511 )
2003
27
Systemic meningococcal infection and complement deficiency. ( 12913784 )
2003
28
Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy. ( 12755933 )
2003
29
Investigation for complement deficiency following meningococcal disease. ( 11861251 )
2002
30
Complement deficiency ameliorates collagen-induced arthritis in mice. ( 12077276 )
2002
31
C7 complement deficiency in an Israeli Arab village. ( 12116267 )
2002
32
Animal models of inherited complement deficiency. ( 11471455 )
2001
33
Links between complement deficiency and apoptosis. ( 11438036 )
2001
34
IgA nephropathy with complement deficiency. ( 11201372 )
2001
35
Screening for complement deficiency. ( 10857109 )
2000
36
Complement deficiency. ( 11107496 )
2000
37
Apoptosis and autoimmunity: complement deficiency and systemic lupus erythematosus revisited. ( 11123037 )
2000
38
Is acute hemorrhagic edema of infancy a complement deficiency state? ( 10959754 )
2000
39
The role of Fcgamma receptor polymorphisms and C3 in the immune defence against Neisseria meningitidis in complement-deficient individuals. ( 10792385 )
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
C1q knock-out mice for the study of complement deficiency in autoimmune disease. ( 10072632 )
1998
47
Protection against meningococcal serogroup ACYW disease in complement-deficient individuals vaccinated with the tetravalent meningococcal capsular polysaccharide vaccine. ( 9844044 )
1998
48
Screening for complement deficiency in bacterial meningitis. ( 9343286 )
1997
49
C1q binds directly and specifically to surface blebs of apoptotic human keratinocytes: complement deficiency and systemic lupus erythematosus revisited. ( 9144462 )
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:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.87 C1S C2 C3 C4A C5 KNG1
2 extracellular space GO:0005615 9.61 C2 C3 C4A C5 CFP KNG1
3 endoplasmic reticulum lumen GO:0005788 9.56 C3 C4A CFP KNG1
4 blood microparticle GO:0072562 9.55 C1S C3 C4A KNG1 SERPING1
5 extracellular region GO:0005576 9.32 C1S C2 C3 C4A C5 CFP

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.88 C1S C3 C4A C5 MBL2 SERPING1
2 innate immune response GO:0045087 9.86 C1S C2 C3 C4A C5 CFP
3 proteolysis GO:0006508 9.85 C1S C2 C3 C4A MBL2
4 inflammatory response GO:0006954 9.8 C3 C4A C5 KNG1
5 cellular protein metabolic process GO:0044267 9.72 C3 C4A KNG1
6 negative regulation of endopeptidase activity GO:0010951 9.72 C3 C4A C5 KNG1 SERPING1
7 complement activation, classical pathway GO:0006958 9.7 C1S C2 C3 C4A C5 MBL2
8 complement activation, alternative pathway GO:0006957 9.61 C3 C5 CFP
9 hemostasis GO:0007599 9.56 KNG1 SERPING1
10 positive regulation of phagocytosis GO:0050766 9.54 C3 MBL2
11 positive regulation of apoptotic cell clearance GO:2000427 9.54 C2 C3 C4A
12 positive regulation of vascular endothelial growth factor production GO:0010575 9.52 C3 C5
13 blood coagulation, intrinsic pathway GO:0007597 9.51 KNG1 SERPING1
14 regulation of complement activation GO:0030449 9.5 C1S C2 C3 C4A C5 CFP
15 complement activation, lectin pathway GO:0001867 9.48 C1S MBL2
16 complement activation GO:0006956 9.17 C1S C2 C3 C4A C5 CFP

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

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.35 C3 C5 KNG1 LIF MBL2
2 endopeptidase inhibitor activity GO:0004866 9.33 C3 C4A C5
3 serine-type endopeptidase activity GO:0004252 9.02 C1S C2 C3 C4A MBL2

Sources for Complement Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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