MCID: CMP009
MIFTS: 41

Complement Deficiency

Categories: Immune diseases

Aliases & Classifications for Complement Deficiency

MalaCards integrated aliases for Complement Deficiency:

Name: Complement Deficiency 12 56 15
Complement Deficiency Disease 12 74

Classifications:



External Ids:

Disease Ontology 12 DOID:626
NCIt 51 C4691
SNOMED-CT 69 24743004
ICD10 34 D80-D89 D84.1
UMLS 74 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 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. 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 Decreased viability and Decreased viability

Wikipedia : 77 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 68)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency due to a classical component pathway complement deficiency 33.2 C2 C4A
2 immunodeficiency due to a late component of complement deficiency 33.2 C5 C6 C7
3 complement component 5 deficiency 31.9 C5 CFP
4 complement factor i deficiency 31.8 C3 CFP
5 hemolytic uremic syndrome, atypical 1 31.2 C3 C5 CFHR2 CFP
6 neisseria meningitidis infection 30.3 C3 CFP MBL2
7 meningococcemia 30.2 CFP MBL2
8 meningitis 30.1 C6 CFP MBL2
9 lupus erythematosus 30.1 C2 C3 C4A
10 glomerulonephritis 29.8 C3 C4A CFP
11 systemic lupus erythematosus 29.5 C2 C3 C4A C5 MBL2
12 meningococcal meningitis 29.4 C6 C7 CFP MBL2
13 iga glomerulonephritis 29.3 CFP MBL2
14 complement component 2 deficiency 11.0
15 lipodystrophy, partial, acquired 11.0
16 complement component 7 deficiency 11.0
17 complement component 6 deficiency 11.0
18 complement component 8 deficiency, type ii 11.0
19 complement component 8 deficiency, type i 11.0
20 complement component 9 deficiency 11.0
21 complement component 4b deficiency 11.0
22 complement component 4a deficiency 11.0
23 c1 inhibitor deficiency 11.0
24 c3 glomerulopathy 10.3 C3 CFP
25 acute poststreptococcal glomerulonephritis 10.3 C5 CFP
26 complement component 3 deficiency 10.3 C3 CFP
27 scabies 10.3 CFP MBL2
28 mannose-binding lectin deficiency 10.2 CFP MBL2
29 streptococcal meningitis 10.2 CFP MBL2
30 3mc syndrome 10.2 CFP MBL2
31 pediatric systemic lupus erythematosus 10.1 C3 C4A
32 afibrinogenemia 10.1 C3 CFP
33 hypersensitivity vasculitis 10.1 C3 C4A
34 immunoglobulin alpha deficiency 10.1 C4A MBL2
35 retinal drusen 10.1 C2 C3
36 hypersensitivity reaction type iii disease 10.1 C3 C4A
37 adult respiratory distress syndrome 10.1 C4A C5
38 membranoproliferative glomerulonephritis 10.0 C3 C4A CFP
39 meningococcal infection 10.0
40 dense deposit disease 10.0 C3 C5 CFHR2
41 autoimmune disease of musculoskeletal system 10.0 C3 C4A
42 anemia, autoimmune hemolytic 9.9 C3 CD59
43 hemoglobinuria 9.8 C3 C5 CD59
44 angioedema, hereditary, type i 9.8
45 autoimmune disease 1 9.8
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
47 systemic lupus erythematosus 16 9.8
48 acute liver failure 9.8
49 hereditary angioedema 9.8
50 panniculitis 9.8

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.28 LIF
2 Decreased viability GR00381-A-1 9.28 C2 LIF
3 Decreased viability GR00381-A-2 9.28 C2 LIF
4 Decreased viability GR00381-A-3 9.28 C2 LIF
5 Decreased viability GR00402-S-2 9.28 C2 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, 585-88-6 493591
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
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
7
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
8
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
9
Etoposide Approved Not Applicable 33419-42-0 36462
10
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
11
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
12
leucovorin Approved Not Applicable 58-05-9 6006 143
13
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
14
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
15
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
16
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
17
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
18
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
19 Peripheral Nervous System Agents Not Applicable
20 Methylprednisolone Acetate Not Applicable
21 Antineoplastic Agents, Alkylating Not Applicable
22 Dermatologic Agents Not Applicable
23 Antifungal Agents Not Applicable
24 Calcineurin Inhibitors Not Applicable
25 Folic Acid Antagonists Not Applicable
26 Nucleic Acid Synthesis Inhibitors Not Applicable
27 Anti-Infective Agents Not Applicable
28 Protective Agents Not Applicable
29 Hormones Not Applicable
30 Antineoplastic Agents, Hormonal Not Applicable
31 Anti-Inflammatory Agents Not Applicable
32 Gastrointestinal Agents Not Applicable
33 Prednisolone acetate Not Applicable
34 Antiemetics Not Applicable
35 Vitamin B9 Not Applicable
36 Cyclosporins Not Applicable
37 glucocorticoids Not Applicable
38 Antimetabolites Not Applicable
39 Topoisomerase Inhibitors Not Applicable
40 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
41 Folate Not Applicable
42 Etoposide phosphate Not Applicable
43 Antilymphocyte Serum Not Applicable
44 Vitamin B Complex Not Applicable
45 Autonomic Agents Not Applicable
46 Antimetabolites, Antineoplastic Not Applicable
47 Hormone Antagonists Not Applicable
48 Alkylating Agents Not Applicable
49 Antineoplastic Agents, Phytogenic Not Applicable
50 Immunosuppressive Agents 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:

42
Liver, Bone, Bone Marrow, Neutrophil

Publications for Complement Deficiency

Articles related to Complement Deficiency:

(show top 50) (show all 114)
# Title Authors Year
1
The Brief Case: Meningococcemia Leading to a Diagnosis of Complement Deficiency in a 23-Month-Old. ( 30700562 )
2019
2
Closing the Brief Case: Meningococcemia Leading to a Diagnosis of Complement Deficiency in a 23-Month-Old. ( 30700563 )
2019
3
Complement deficiency in pediatric-onset systemic lupus erythematosus. ( 29692593 )
2018
4
Can Cell Bound Complement Activation Products Predict Inherited Complement Deficiency in Systemic Lupus Erythematosus? ( 28074166 )
2016
5
Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients. ( 27175654 )
2016
6
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
7
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 26385745 )
2015
8
Complement deficiency promotes cutaneous wound healing in mice. ( 25548229 )
2015
9
Intranasal peptide-induced tolerance and linked suppression: consequences of complement deficiency. ( 25039245 )
2014
10
Post-vaccine glomerulonephritis in an infant with hereditary C2 complement deficiency: case study. ( 24382852 )
2013
11
C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review. ( 23371790 )
2013
12
Complement deficiency states and associated infections. ( 21624663 )
2011
13
Murine complement deficiency ameliorates acute cigarette smoke-induced nasal damage. ( 20620635 )
2010
14
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 19910391 )
2010
15
Complement deficiency and disease. ( 18495794 )
2008
16
Complement deficiency and systemic lupus erythematosus: consensus and dilemma. ( 20476965 )
2008
17
Hereditary complement deficiency and lupus: report of four Tunisian cases. ( 17893986 )
2007
18
Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. ( 17890276 )
2007
19
Meningococcal disease associated with an acute post-streptococcal complement deficiency. ( 17294226 )
2007
20
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
21
Complement deficiency and disease: an update. ( 16026838 )
2006
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
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. ( 15488949 )
2005
24
Clinical and laboratory evaluation of complement deficiency. ( 15100659 )
2004
25
Pneumococcal psoas pyomyositis associated with complement deficiency. ( 15071302 )
2004
26
Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy. ( 12755933 )
2003
27
Two related cases of primary complement deficiency. ( 14603997 )
2003
28
Systemic meningococcal infection and complement deficiency. ( 12913784 )
2003
29
Rheumatic syndromes associated with complement deficiency. ( 12496511 )
2003
30
Complement deficiency ameliorates collagen-induced arthritis in mice. ( 12077276 )
2002
31
C7 complement deficiency in an Israeli Arab village. ( 12116267 )
2002
32
Investigation for complement deficiency following meningococcal disease. ( 11861251 )
2002
33
IgA nephropathy with complement deficiency. ( 11201372 )
2001
34
Links between complement deficiency and apoptosis. ( 11438036 )
2001
35
Animal models of inherited complement deficiency. ( 11471455 )
2001
36
Systemic lupus erythematosus, complement deficiency, and apoptosis. ( 11079100 )
2000
37
Pyoderma gangrenosum in a patient with autoimmune haemolytic anaemia and complement deficiency. ( 10886151 )
2000
38
Screening for complement deficiency. ( 10857109 )
2000
39
Is acute hemorrhagic edema of infancy a complement deficiency state? ( 10959754 )
2000
40
Apoptosis and autoimmunity: complement deficiency and systemic lupus erythematosus revisited. ( 11123037 )
2000
41
Complement deficiency. ( 11107496 )
2000
42
Complement deficiency states, disease susceptibility, and infection risk in systemic lupus erythematosus. ( 10524672 )
1999
43
Assessment of complement deficiency in patients with meningococcal disease in The Netherlands. ( 10028078 )
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
Generalized lupus panniculitis and antiphospholipid syndrome in a patient without complement deficiency. ( 10469410 )
1999
46
C1q knock-out mice for the study of complement deficiency in autoimmune disease. ( 10072632 )
1998
47
Complement deficiency and autoimmunity. ( 9848020 )
1998
48
Screening for complement deficiency in bacterial meningitis. ( 9343286 )
1997
49
Complement deficiency and autoimmunity. ( 9186664 )
1997
50
C1q binds directly and specifically to surface blebs of apoptotic human keratinocytes: complement deficiency and systemic lupus erythematosus revisited. ( 9144462 )
1997

Variations for Complement Deficiency

Expression for Complement Deficiency

Search GEO for disease gene expression data for Complement Deficiency.

Pathways for Complement Deficiency

Pathways related to Complement Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 C2 C3 C4A C5 C6 C7
2
Show member pathways
13.35 C2 C3 C4A C5 C6 C7
3 12 C2 C3 C4A C5 C6 C7
4
Show member pathways
11.92 C2 C3 C4A C5 C6 C7
5
Show member pathways
11.63 C2 C3 C4A C5 C6 C7
6 11.55 C2 C3 C4A C5
7 11.55 C2 C3 C4A C5 MBL2
8
Show member pathways
11.4 C2 C3 C4A C5 C6 C7
9 11.15 C5 C6 C7

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 9.8 C2 C3 C4A C5 C6 C7
2 extracellular space GO:0005615 9.76 C2 C3 C4A C5 CD59 CFP
3 endoplasmic reticulum lumen GO:0005788 9.5 C3 C4A CFP
4 extracellular region GO:0005576 9.36 C2 C3 C4A C5 C6 C7
5 membrane attack complex GO:0005579 9.13 C5 C6 C7

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.89 C2 C3 C4A CFP MBL2
2 immune system process GO:0002376 9.88 C3 C4A C5 C6 MBL2
3 innate immune response GO:0045087 9.86 C2 C3 C4A C5 C6 C7
4 immune response GO:0006955 9.85 C3 C6 C7 CFP LIF
5 positive regulation of angiogenesis GO:0045766 9.7 C3 C5 C6
6 complement activation, classical pathway GO:0006958 9.7 C2 C3 C4A C5 C6 C7
7 negative regulation of endopeptidase activity GO:0010951 9.69 C3 C4A C5
8 complement activation, alternative pathway GO:0006957 9.62 C3 C5 C7 CFP
9 regulation of complement activation GO:0030449 9.61 C2 C3 C4A C5 C6 C7
10 cytolysis GO:0019835 9.58 C5 C6 C7
11 positive regulation of phagocytosis GO:0050766 9.55 C3 MBL2
12 positive regulation of vascular endothelial growth factor production GO:0010575 9.54 C3 C5
13 positive regulation of apoptotic cell clearance GO:2000427 9.54 C2 C3 C4A
14 positive regulation of activation of membrane attack complex GO:0001970 9.43 C3 C6
15 complement activation GO:0006956 9.23 C2 C3 C4A C5 C6 C7

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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