MCID: CMP009
MIFTS: 41

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 191014008 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 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 : 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 57)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency due to a late component of complement deficiency 33.4 C5 C7
2 immunodeficiency due to a classical component pathway complement deficiency 33.1 C2 C4A
3 c1 inhibitor deficiency 30.8 KNG1 SERPING1
4 neisseria meningitidis infection 30.4 C3 CFP MBL2
5 meningococcemia 30.2 CFP MBL2
6 hypersensitivity reaction type iii disease 30.0 C3 C4A
7 glomerulonephritis 29.8 C3 C4A CFP
8 lupus erythematosus 29.6 C2 C3 C4A
9 meningococcal meningitis 29.6 C7 CFP MBL2
10 iga glomerulonephritis 29.4 C4A CFP MBL2
11 systemic lupus erythematosus 28.7 C2 C3 C4A MBL2
12 hemolytic uremic syndrome, atypical 1 10.8
13 lipodystrophy, partial, acquired 10.8
14 c3 glomerulopathy 10.7 C3 CFP
15 complement component 3 deficiency 10.6 C3 CFP
16 scabies 10.6 CFP MBL2
17 complement component 5 deficiency 10.6 C5 CFP
18 complement factor i deficiency 10.6 C3 CFP
19 mannose-binding lectin deficiency 10.6 CFP MBL2
20 dense deposit disease 10.6 C3 C5
21 acute poststreptococcal glomerulonephritis 10.5 C5 CFP
22 3mc syndrome 10.4 CFP MBL2
23 streptococcal meningitis 10.4 CFP MBL2
24 pediatric systemic lupus erythematosus 10.4 C3 C4A
25 hypersensitivity vasculitis 10.4 C3 C4A
26 phototoxic dermatitis 10.4 C3 KNG1
27 immunoglobulin alpha deficiency 10.3 C4A MBL2
28 afibrinogenemia 10.3 C3 CFP
29 retinal drusen 10.2 C2 C3
30 lemierre's syndrome 10.2 C3 KNG1
31 membranoproliferative glomerulonephritis 10.1 C3 C4A CFP
32 acquired angioedema 10.0 C3 SERPING1
33 hemoglobinuria 10.0 C3 C5
34 adult respiratory distress syndrome 10.0 C4A C5
35 meningitis 9.9
36 hepatitis 9.8
37 meningococcal infection 9.8
38 allergic urticaria 9.8 KNG1 SERPING1
39 hemolytic-uremic syndrome 9.8 C3 C5
40 autoimmune disease 9.7
41 autoimmune disease 1 9.7
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
43 systemic lupus erythematosus 16 9.7
44 acute liver failure 9.7
45 hereditary angioedema 9.5 KNG1 SERPING1
46 arthritis 9.5
47 cutaneous lupus erythematosus 9.5
48 nephrotic syndrome 9.5
49 panniculitis 9.5
50 pyoderma 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:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.66 MBL2 SERPING1 C4A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.66 C4A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.66 MBL2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.66 C4A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.66 C4A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.66 C4A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.66 C4A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.66 MBL2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 MBL2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.66 SERPING1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.66 MBL2 SERPING1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.66 SERPING1 C4A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.66 SERPING1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.66 SERPING1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.66 SERPING1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.66 MBL2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 C4A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.66 C4A
19 Decreased viability GR00240-S-1 9.61 LIF
20 Decreased viability GR00381-A-1 9.61 LIF C2
21 Decreased viability GR00381-A-2 9.61 LIF C2
22 Decreased viability GR00381-A-3 9.61 LIF C2
23 Decreased viability GR00402-S-2 9.61 C2 LIF

Drugs & Therapeutics for Complement Deficiency

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

(show top 50) (show all 51)
# 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 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
4 Vaccines Phase 3
5
Etoposide Approved Not Applicable 33419-42-0 36462
6
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
7
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
8
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
9
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
10
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
11
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
12
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
13
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
14
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
15 Prednisolone acetate Not Applicable
16 Alkylating Agents Not Applicable
17 glucocorticoids Not Applicable
18 Methylprednisolone acetate Not Applicable
19 Methylprednisolone Hemisuccinate Not Applicable
20 Folic Acid Antagonists Not Applicable
21 Gastrointestinal Agents Not Applicable
22 Neuroprotective Agents Not Applicable
23 Cyclosporins Not Applicable
24 Topoisomerase Inhibitors Not Applicable
25 Hormone Antagonists Not Applicable
26 Dermatologic Agents Not Applicable
27 Nucleic Acid Synthesis Inhibitors Not Applicable
28 Hormones Not Applicable
29 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
30 Peripheral Nervous System Agents Not Applicable
31 Vitamin B Complex Not Applicable
32 Etoposide phosphate Not Applicable
33 Immunosuppressive Agents Not Applicable
34 Prednisolone hemisuccinate Not Applicable
35 Prednisolone phosphate Not Applicable
36 Anti-Infective Agents Not Applicable
37 Antiemetics Not Applicable
38 Antifungal Agents Not Applicable
39 Protective Agents Not Applicable
40 Anti-Inflammatory Agents Not Applicable
41 Antilymphocyte Serum Not Applicable
42 Antirheumatic Agents Not Applicable
43 Antimetabolites Not Applicable
44 Autonomic Agents Not Applicable
45 Antimetabolites, Antineoplastic Not Applicable
46 Calcineurin Inhibitors Not Applicable
47 Antineoplastic Agents, Alkylating Not Applicable
48 Antineoplastic Agents, Hormonal Not Applicable
49 Antineoplastic Agents, Phytogenic Not Applicable
50 Folate Nutraceutical 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 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

Publications for Complement Deficiency

Articles related to Complement Deficiency:

(show top 50) (show all 118)
# Title Authors Year
1
Complement deficiency in pediatric-onset systemic lupus erythematosus. ( 29692593 )
2018
2
Diagnosis of primary antibody and complement deficiencies in young adults after a first invasive bacterial infection. ( 28192236 )
2017
3
Can Cell Bound Complement Activation Products Predict Inherited Complement Deficiency in Systemic Lupus Erythematosus? ( 28074166 )
2016
4
Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients. ( 27175654 )
2016
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
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 26385745 )
2015
7
Complement deficiency promotes cutaneous wound healing in mice. ( 25548229 )
2015
8
Intranasal peptide-induced tolerance and linked suppression: consequences of complement deficiency. ( 25039245 )
2014
9
Post-vaccine glomerulonephritis in an infant with hereditary C2 complement deficiency: case study. ( 24382852 )
2013
10
C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review. ( 23371790 )
2013
11
Complement deficiency states and associated infections. ( 21624663 )
2011
12
Murine complement deficiency ameliorates acute cigarette smoke-induced nasal damage. ( 20620635 )
2010
13
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 19910391 )
2010
14
Clinical significance of complement deficiencies. ( 19758139 )
2009
15
Complement deficiency and disease. ( 18495794 )
2008
16
Complement deficiency and systemic lupus erythematosus: consensus and dilemma. ( 20476965 )
2008
17
Inherited complement deficiencies and bacterial infections. ( 19388157 )
2008
18
Hereditary complement deficiency and lupus: report of four Tunisian cases. ( 17893986 )
2007
19
Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. ( 17890276 )
2007
20
Meningococcal disease associated with an acute post-streptococcal complement deficiency. ( 17294226 )
2007
21
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
22
Complement deficiency and disease: an update. ( 16026838 )
2006
23
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
24
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. ( 15488949 )
2005
25
Clinical and laboratory evaluation of complement deficiency. ( 15100659 )
2004
26
Pneumococcal psoas pyomyositis associated with complement deficiency. ( 15071302 )
2004
27
Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy. ( 12755933 )
2003
28
Two related cases of primary complement deficiency. ( 14603997 )
2003
29
Systemic meningococcal infection and complement deficiency. ( 12913784 )
2003
30
Rheumatic syndromes associated with complement deficiency. ( 12496511 )
2003
31
Complement deficiency ameliorates collagen-induced arthritis in mice. ( 12077276 )
2002
32
C7 complement deficiency in an Israeli Arab village. ( 12116267 )
2002
33
Investigation for complement deficiency following meningococcal disease. ( 11861251 )
2002
34
IgA nephropathy with complement deficiency. ( 11201372 )
2001
35
Links between complement deficiency and apoptosis. ( 11438036 )
2001
36
Animal models of inherited complement deficiency. ( 11471455 )
2001
37
Systemic lupus erythematosus, complement deficiency, and apoptosis. ( 11079100 )
2000
38
Pyoderma gangrenosum in a patient with autoimmune haemolytic anaemia and complement deficiency. ( 10886151 )
2000
39
Screening for complement deficiency. ( 10857109 )
2000
40
The role of Fcgamma receptor polymorphisms and C3 in the immune defence against Neisseria meningitidis in complement-deficient individuals. ( 10792385 )
2000
41
Is acute hemorrhagic edema of infancy a complement deficiency state? ( 10959754 )
2000
42
Apoptosis and autoimmunity: complement deficiency and systemic lupus erythematosus revisited. ( 11123037 )
2000
43
Complement deficiency. ( 11107496 )
2000
44
Complement deficiency states, disease susceptibility, and infection risk in systemic lupus erythematosus. ( 10524672 )
1999
45
Assessment of complement deficiency in patients with meningococcal disease in The Netherlands. ( 10028078 )
1999
46
Systemic lupus erythematosus and complement deficiency: clues to a novel role for the classical complement pathway in the maintenance of immune tolerance. ( 10408365 )
1999
47
C1q knock-out mice for the study of complement deficiency in autoimmune disease. ( 10072632 )
1998
48
Complement deficiency and autoimmunity. ( 9848020 )
1998
49
Protection against meningococcal serogroup ACYW disease in complement-deficient individuals vaccinated with the tetravalent meningococcal capsular polysaccharide vaccine. ( 9844044 )
1998
50
Screening for complement deficiency in bacterial meningitis. ( 9343286 )
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 9.91 C2 C3 C4A C5 C7 KNG1
2 endoplasmic reticulum lumen GO:0005788 9.62 C3 C4A CFP KNG1
3 extracellular space GO:0005615 9.61 C2 C3 C4A C5 CFP KNG1
4 blood microparticle GO:0072562 9.46 C3 C4A KNG1 SERPING1
5 platelet alpha granule lumen GO:0031093 9.4 KNG1 SERPING1
6 extracellular region GO:0005576 9.32 C2 C3 C4A C5 C7 CFP
7 membrane attack complex GO:0005579 9.26 C5 C7

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.86 C2 C3 C4A MBL2
2 innate immune response GO:0045087 9.86 C2 C3 C4A C5 C7 CFP
3 immune system process GO:0002376 9.83 C3 C4A C5 MBL2 SERPING1
4 immune response GO:0006955 9.8 C3 C7 CFP LIF
5 negative regulation of endopeptidase activity GO:0010951 9.77 C3 C4A C5 KNG1 SERPING1
6 inflammatory response GO:0006954 9.76 C3 C4A C5 KNG1
7 post-translational protein modification GO:0043687 9.75 C3 C4A KNG1
8 cellular protein metabolic process GO:0044267 9.71 C3 C4A KNG1
9 complement activation, classical pathway GO:0006958 9.7 C2 C3 C4A C5 C7 MBL2
10 complement activation, alternative pathway GO:0006957 9.62 C3 C5 C7 CFP
11 positive regulation of apoptotic cell clearance GO:2000427 9.58 C2 C3 C4A
12 hemostasis GO:0007599 9.57 KNG1 SERPING1
13 positive regulation of phagocytosis GO:0050766 9.55 C3 MBL2
14 positive regulation of vascular endothelial growth factor production GO:0010575 9.52 C3 C5
15 cytolysis GO:0019835 9.51 C5 C7
16 regulation of complement activation GO:0030449 9.5 C2 C3 C4A C5 C7 CFP
17 blood coagulation, intrinsic pathway GO:0007597 9.48 KNG1 SERPING1
18 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 protein binding GO:0005515 9.96 C2 C3 C4A C5 C7 CFP
2 serine-type endopeptidase activity GO:0004252 9.46 C2 C3 C4A MBL2
3 signaling receptor binding GO:0005102 9.35 C3 C5 KNG1 LIF MBL2
4 endopeptidase inhibitor activity GO:0004866 8.92 C3 C4A C5 KNG1

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
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