MCID: CMP009
MIFTS: 40

Complement Deficiency

Categories: Immune diseases

Aliases & Classifications for Complement Deficiency

MalaCards integrated aliases for Complement Deficiency:

Name: Complement Deficiency 12 54 15
Complement Deficiency Disease 12 70
Hereditary Complement Deficiency Diseases 44

Classifications:



External Ids:

Disease Ontology 12 DOID:626
MeSH 44 D000081208
NCIt 50 C4691
SNOMED-CT 67 191014008
ICD10 32 D84.1
UMLS 70 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 Viral mRNA Translation. The drugs Lactitol and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, eye and kidney, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 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 154)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency due to a classical component pathway complement deficiency 32.4 C4A C2
2 immunodeficiency due to a late component of complement deficiency 32.4 C7 C6 C5
3 complement component 2 deficiency 31.7 CFH CFB C4A C2
4 complement factor i deficiency 31.7 CFP CFI C4A C3
5 complement component 5 deficiency 31.3 CFP CFHR2 CD46 C5AR1 C5 C4A
6 complement component 3 deficiency 31.1 MBL2 CFP CFHR2 CFH CD46 C5AR1
7 neisseria meningitidis infection 30.8 MBL2 CFP CD46 C3
8 meningococcemia 30.7 MBL2 CFP
9 bacterial infectious disease 30.5 MBL2 CFP CFHR2 C4A
10 pneumococcal meningitis 30.4 C5 C3
11 angioedema 30.3 SERPING1 MBL2 C4A C3
12 bacterial meningitis 30.3 MBL2 CFP C3
13 meningitis 30.2 MBL2 CFP CFI CD46 C3
14 meningococcal meningitis 30.2 MBL2 CFP CFHR2 CFH C7 C6
15 glomerulonephritis 30.2 MBL2 CFP CFI CFH CD46 C4A
16 hereditary angioedema 30.1 SERPING1 MBL2 C4A
17 acute poststreptococcal glomerulonephritis 29.9 CFP CFHR2 C5 C3
18 mannose-binding lectin deficiency 29.9 MBL2 CFP C5AR1
19 antiphospholipid syndrome 29.8 CFH C3 ADAMTS13
20 membranoproliferative glomerulonephritis 29.7 DGKE CFP CFHR2 CFH CFB CD46
21 hypersensitivity reaction type iii disease 29.6 CFP CFHR2 C5AR1 C4A C3
22 iga glomerulonephritis 29.6 MBL2 CFP CFHR2 CFH C4A C3
23 systemic lupus erythematosus 29.2 MBL2 CFI CFHR2 CFB CD46 C5AR1
24 hemolytic uremic syndrome, atypical 1 29.1 SERPING1 MBL2 DGKE CFP CFI CFHR3
25 complement component 9 deficiency 11.0
26 complement component 4a deficiency 11.0
27 complement component 6 deficiency 11.0
28 complement component 7 deficiency 11.0
29 c1 inhibitor deficiency 11.0
30 properdin deficiency, x-linked 11.0
31 complement component 8 deficiency, type ii 11.0
32 complement component 8 deficiency, type i 11.0
33 lipodystrophy, partial, acquired 11.0
34 complement component 4b deficiency 11.0
35 diffuse glomerulonephritis 10.4 CFP C3
36 acquired angioedema 10.4 SERPING1 C3
37 rapidly progressive glomerulonephritis 10.3 CFP C5 C3
38 skeletal tuberculosis 10.3 CFHR2 CFHR1
39 tick-borne relapsing fever 10.3 CFHR2 C4A C3
40 scarlet fever 10.3 CFP C3
41 anti-basement membrane glomerulonephritis 10.3 CFP CFHR2
42 pediatric systemic lupus erythematosus 10.3 C4A C3
43 complement factor b deficiency 10.3 CFB C2
44 monkeypox 10.3 CD46 C4A C3
45 hypersensitivity vasculitis 10.3 CFHR2 C4A C3
46 de novo thrombotic microangiopathy after kidney transplantation 10.3 CFI CFH
47 multifocal choroiditis 10.3 CFH CFB
48 choroiditis 10.3 CFH CFB
49 lupus erythematosus 10.3
50 capillary leak syndrome 10.3 SERPING1 C4A C3

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 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.78 DGKE
2 Decreased viability GR00055-A-2 9.78 DGKE
3 Decreased viability GR00106-A-0 9.78 MBL2
4 Decreased viability GR00221-A-1 9.78 DGKE
5 Decreased viability GR00221-A-2 9.78 DGKE
6 Decreased viability GR00221-A-3 9.78 DGKE
7 Decreased viability GR00240-S-1 9.78 C7 DGKE LIF
8 Decreased viability GR00249-S 9.78 C2 C5 C5AR1 C7 DGKE SERPING1
9 Decreased viability GR00301-A 9.78 DGKE
10 Decreased viability GR00381-A-1 9.78 C2 C5AR1 C7 LIF
11 Decreased viability GR00381-A-2 9.78 C2 LIF
12 Decreased viability GR00381-A-3 9.78 C2 LIF
13 Decreased viability GR00386-A-1 9.78 C3 C5 CFHR1
14 Decreased viability GR00402-S-2 9.78 C6 LIF

Drugs & Therapeutics for Complement Deficiency

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactitol Approved, Investigational Phase 3 585-86-4 157355
2 Vaccines Phase 3
3
Methotrexate Approved 1959-05-2, 59-05-2 126941
4
Methylprednisolone Approved, Vet_approved 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved 2921-57-5
6
Levoleucovorin Approved, Investigational 68538-85-2 149436
7
Prednisolone Approved, Vet_approved 50-24-8 5755
8
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
9
Prednisolone acetate Approved, Vet_approved 52-21-1
10
Clotrimazole Approved, Vet_approved 23593-75-1 2812
11
Busulfan Approved, Investigational 55-98-1 2478
12
Prednisone Approved, Vet_approved 53-03-2 5865
13
Etoposide Approved 33419-42-0 36462
14
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
15
Prednisolone phosphate Approved, Vet_approved 302-25-0
16
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
17
Prednisolone hemisuccinate Experimental 2920-86-7
18 Complement System Proteins
19 Antimetabolites
20 Vitamin B9
21 Anti-Infective Agents
22 Methylprednisolone Acetate
23 Folic Acid Antagonists
24 Immunosuppressive Agents
25 Antirheumatic Agents
26 Hormones
27 Alkylating Agents
28 Gastrointestinal Agents
29 Immunologic Factors
30 Antiemetics
31 Folate
32 Neuroprotective Agents
33 Etoposide phosphate
34 Antilymphocyte Serum
35 Hormone Antagonists
36 glucocorticoids
37 Antineoplastic Agents, Hormonal
38 Vitamin B Complex
39 Cyclosporins
40 Calcineurin Inhibitors
41 Anti-Inflammatory Agents
42 Protective Agents
43 Antifungal Agents
44 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase IIIb, Open Label, Controlled, Multi-Center Study to Evaluate the Safety, Tolerability and Immunogenicity of Two Doses of Novartis Meningococcal Group B Vaccine When Administered to Immunocompromised Patients From 2 to 17 Years of Age Who Are at Increased Risk of Meningococcal Disease Because of Complement Deficiency or Asplenia Compared to Matched Healthy Controls. Completed NCT02141516 Phase 3
2 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
3 Systematic Search for Primary Immunodeficiency in Adults With Unexplained Recurrent and/or Severe Infections With Encapsulated Bacteria Terminated NCT02972281

Search NIH Clinical Center for Complement Deficiency

Cochrane evidence based reviews: hereditary complement deficiency diseases

Genetic Tests for Complement Deficiency

Anatomical Context for Complement Deficiency

MalaCards organs/tissues related to Complement Deficiency:

40
Bone Marrow, Eye, Kidney, Liver, Skin, Neutrophil, Bone

Publications for Complement Deficiency

Articles related to Complement Deficiency:

(show top 50) (show all 379)
# Title Authors PMID Year
1
Serum bactericidal activity against Neisseria meningitidis in patients with C3 nephritic factors is dependent on IgG allotypes. 54 61
18667363 2008
2
[Complement protein hereditary deficits during purulent meningitis: study of 61 adult Tunisian patients]. 54 61
19388594 2006
3
Complement analysis in adult patients with a history of bacteremic pneumococcal infections or recurrent pneumonia. 61 54
7660072 1995
4
Deficiency of mannan binding protein--a new complement deficiency syndrome. 61 54
1934604 1991
5
Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants: A case report. 61
33787610 2021
6
Rabbit antithymocyte globulin induces human lymphocyte activation, proliferation, and apoptosis in the absence of complement: an experimental study. 61
33725365 2021
7
Brain death-induced lung injury is complement dependent, with a primary role for the classical/lectin pathway. 61
32743873 2021
8
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome. 61
33563058 2021
9
Recurrent macroscopic hematuria in a pediatric patient: is it early to diagnose as having type I hereditary C2 deficiency? 61
32372346 2020
10
Bacterial infections in a pediatric cohort of primary and acquired complement deficiencies. 61
32972440 2020
11
A case report of complement C4B deficiency in a patient with steroid and IVIG-refractory anti-NMDA receptor encephalitis. 61
32900365 2020
12
The First Case of an Infant with Familial A20 Haploinsufficiency in Korea. 61
32743991 2020
13
Recurrent meningococcal meningitis with complement 6 (C6) deficiency: A case report. 61
32481330 2020
14
Meningococcaemia causing necrotizing cellulitis associated with acquired complement deficiency after gastric bypass surgery: a case report. 61
32434466 2020
15
The Immunopathology of Complement Proteins and Innate Immunity in Autoimmune Disease. 61
31834594 2020
16
Phenotypic variability in a child with Felty's syndrome: a case report. 61
32264838 2020
17
Inherited C2-complement deficiency: variable clinical manifestation (case reports and review). 61
32942894 2020
18
Analysis of the Complement System in the Clinical Immunology Laboratory. 61
31668271 2019
19
Multi-component meningococcal serogroup B (MenB)-4C vaccine induces effective opsonophagocytic killing in children with a complement deficiency. 61
31487400 2019
20
Clinical Features and Outcomes of Immunocompromised Children Hospitalized With Laboratory-Confirmed Influenza in the United States, 2011-2015. 61
30358877 2019
21
Fate of full-house immunofluorescence staining in renal allograft: A case report. 61
31508868 2019
22
Characteristics and Impact of Disseminated Gonococcal Infection in the "Top End" of Australia. 61
31392956 2019
23
Clinical Complement Analysis-An Overview. 61
31672339 2019
24
Kidney Injury in Murine Models of Hematopoietic Stem Cell Transplantation. 61
31271886 2019
25
Recent advances in risk prediction, therapeutics and pathogenesis of IgA nephropathy. 61
31142099 2019
26
Prevalence of Immunodeficiency in Children With Invasive Pneumococcal Disease in the Pneumococcal Vaccine Era: A Systematic Review. 61
31566672 2019
27
The story of complement factor I. 61
31109748 2019
28
An Unusual Case of Diffuse Alveolar Hemorrhage as a Clinical Manifestation of Atypical Hemolytic Uremic Syndrome: A Case Report. 61
31516771 2019
29
Invasive meningococcal disease in patients with complement deficiencies: a case series (2008-2017). 61
31200658 2019
30
Invasive Meningococcal Disease due to Nongroupable Neisseria meningitidis-Active Bacterial Core Surveillance Sites, 2011-2016. 61
31123695 2019
31
The Brief Case: Meningococcemia Leading to a Diagnosis of Complement Deficiency in a 23-Month-Old. 61
30700562 2019
32
Closing the Brief Case: Meningococcemia Leading to a Diagnosis of Complement Deficiency in a 23-Month-Old. 61
30700563 2019
33
Complement as a diagnostic tool in immunopathology. 61
29292221 2019
34
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies. 61
31440263 2019
35
Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience. 61
30593745 2018
36
Meningococcal B Vaccine Immunogenicity in Children With Defects in Complement and Splenic Function. 61
30068713 2018
37
Epidemiology, clinical presentation, risk factors, intensive care admission and outcomes of invasive meningococcal disease in England, 2010-2015. 61
29699791 2018
38
Complement deficiency in pediatric-onset systemic lupus erythematosus. 61
29692593 2018
39
Substitution of Mannan-Binding Lectin (MBL)-Deficient Serum With Recombinant MBL Results in the Formation of New MBL/MBL-Associated Serine Protease Complexes. 61
29997613 2018
40
Genomics of Systemic Lupus Erythematosus: Insights Gained by Studying Monogenic Young-Onset Systemic Lupus Erythematosus. 61
28711143 2017
41
Diagnosis of primary antibody and complement deficiencies in young adults after a first invasive bacterial infection. 61
28192236 2017
42
Systemic lupus erythematosus in Spanish males: a study of the Spanish Rheumatology Society Lupus Registry (RELESSER) cohort. 61
27799439 2017
43
SLE and Serum Complement: Causative, Concomitant or Coincidental? 61
29290848 2017
44
A Case of Fulminant Meningococcemia: It Is All in the Complement. 61
28808592 2017
45
[Systemic lupus erythematosus : Unusual cutaneous manifestations]. 61
27878308 2016
46
A Fatal Case of Invasive Infection Caused By W135 Neisseria meningitidis in a Vaccinated French Soldier. 61
27849512 2016
47
Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation. 61
27091480 2016
48
Novel Mutations Causing C5 Deficiency in Three North-African Families. 61
27026170 2016
49
Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients. 61
27175654 2016
50
A case of relapsing-remitting facial palsy and ipsilateral brachial plexopathy caused by HSV-1. 61
26991053 2016

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
13.84 MBL2 LIF CFP CFI CFHR3 CFH
2
Show member pathways
13.53 MBL2 CFB C7 C6 C5AR1 C5
3
Show member pathways
12.13 MBL2 CFI CFHR3 CFH CFB CD46
4
Show member pathways
12.03 SERPING1 MBL2 CFP CFI CFHR3 CFH
5 11.96 MBL2 CFI CFH CFB C5AR1 C5
6
Show member pathways
11.82 MBL2 CFP CFB C7 C6 C5
7 11.69 SERPING1 MBL2 CFI CFHR3 CFHR2 CFHR1
8 11.68 SERPING1 C5 C4A C3 C2

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 10.03 SERPING1 CFI CFHR3 CFH CFB CD46
2 cell surface GO:0009986 9.8 MBL2 CD46 C5AR1 C3 ADAMTS13
3 extracellular space GO:0005615 9.8 SERPING1 MBL2 LIF CFP CFI CFHR3
4 blood microparticle GO:0072562 9.7 SERPING1 CFHR3 CFHR1 CFH CFB C4A
5 endoplasmic reticulum lumen GO:0005788 9.67 CFP C4A C3 ADAMTS13
6 extracellular region GO:0005576 9.55 SERPING1 MBL2 LIF CFP CFI CFHR3
7 membrane attack complex GO:0005579 9.5 C7 C6 C5

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 10.13 SERPING1 MBL2 CFP CFI CFH CFB
2 complement activation, classical pathway GO:0006958 9.96 SERPING1 MBL2 CFI CD46 C7 C6
3 immune response GO:0006955 9.95 LIF CFP C7 C6 C5AR1 C3
4 complement activation GO:0006956 9.9 MBL2 CFP CFHR1 CFH CFB C7
5 complement activation, alternative pathway GO:0006957 9.85 CFP CFH CFB C7 C5 C3
6 negative regulation of endopeptidase activity GO:0010951 9.8 SERPING1 C5 C4A C3
7 innate immune response GO:0045087 9.77 SERPING1 MBL2 CFP CFI CFH CFB
8 positive regulation of vascular endothelial growth factor production GO:0010575 9.63 C5AR1 C5 C3
9 cytolysis GO:0019835 9.61 C7 C6 C5
10 positive regulation of apoptotic cell clearance GO:2000427 9.58 C4A C3 C2
11 amyloid-beta clearance GO:0097242 9.52 C5AR1 C3
12 cytolysis by host of symbiont cells GO:0051838 9.51 CFHR2 CFHR1
13 regulation of complement activation GO:0030449 9.5 SERPING1 CFP CFI CFHR2 CFHR1 CFH

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase inhibitor activity GO:0004866 8.8 C5 C4A C3

Sources for Complement Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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