C5D
MCID: CMP007
MIFTS: 43

Complement Component 5 Deficiency (C5D)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Complement Component 5 Deficiency

MalaCards integrated aliases for Complement Component 5 Deficiency:

Name: Complement Component 5 Deficiency 56 12 52 73 15 71
C5 Deficiency 56 12 73 13
C5d 56 73
Erythroderma Desquamativum 58
Leiner Disease 58

Characteristics:

HPO:

31
complement component 5 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:8158
OMIM 56 609536
MeSH 43 D007154
NCIt 49 C9469
ICD10 via Orphanet 33 L21.1
Orphanet 58 ORPHA314
MedGen 41 C0343047
UMLS 71 C0343047

Summaries for Complement Component 5 Deficiency

Disease Ontology : 12 A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has material basis in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system.

MalaCards based summary : Complement Component 5 Deficiency, also known as c5 deficiency, is related to meningococcal meningitis and neisseria meningitidis infection. An important gene associated with Complement Component 5 Deficiency is C5 (Complement C5), and among its related pathways/superpathways are Innate Immune System and Allograft rejection. Affiliated tissues include skin, t cells and liver, and related phenotypes are failure to thrive and seborrheic dermatitis

UniProtKB/Swiss-Prot : 73 Complement component 5 deficiency: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

Wikipedia : 74 Complement component 5 is a protein that in humans is encoded by the C5... more...

More information from OMIM: 609536

Related Diseases for Complement Component 5 Deficiency

Diseases related to Complement Component 5 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 meningococcal meningitis 29.9 CFP CFHR2 C3
2 neisseria meningitidis infection 29.7 CFP CD46 C3
3 meningitis 29.5 CFP CD55 CD46 C3
4 complement deficiency 27.7 CFP CFHR2 CD46 C5AR1 C5 C4B
5 glomerulonephritis 26.6 CR1 CFP CD55 CD46 C4B C4A
6 seborrheic infantile dermatitis 11.5
7 leiner disease 11.5
8 pneumococcal meningitis 10.3 C5 C3
9 cerebritis 10.3 C5AR2 C5AR1
10 biotin deficiency 10.3
11 skin disease 10.3
12 seborrheic dermatitis 10.3
13 mannose-binding lectin deficiency 10.2 CFP C5AR1
14 diffuse glomerulonephritis 10.2 CFP C3
15 retinal drusen 10.2 CFHR2 C3
16 dense deposit disease 10.2 CFHR2 C5 C3
17 juvenile dermatitis herpetiformis 10.2 C4B C4A
18 dermatitis 10.1
19 immune-complex glomerulonephritis 10.1 H2AC18 CFHR2 C4B
20 autoimmune disease of musculoskeletal system 10.1 H2AC18 CFHR2 C3
21 rapidly progressive glomerulonephritis 10.1 CFP C5 C3
22 felty syndrome 10.1 H2AC18 C4A
23 monkeypox 10.1 CD55 C4B
24 atypical hemolytic uremic syndrome with complement gene abnormality 10.1 CD46 C3
25 steroid inherited metabolic disorder 10.1 C4B C4A
26 hypersensitivity vasculitis 10.0 CFHR2 C4A C3
27 complement component 2 deficiency 10.0 C4B C4A
28 genetic atypical hemolytic-uremic syndrome 10.0 CD46 C3
29 systemic lupus erythematosus 16 10.0 C4A C1QA
30 retinitis pigmentosa 18 10.0 H2AC18 C4B C4A
31 blood protein disease 10.0 H2AC18 C4B C4A
32 meningococcal infection 10.0
33 lyme disease 10.0 CFHR2 C4A C3
34 louse-borne relapsing fever 10.0 C4B C4A C3
35 capillary leak syndrome 10.0 C4A C3
36 enterocolitis 10.0 CD46 C3
37 acute poststreptococcal glomerulonephritis 9.9 CFP CFHR2 C5 C3
38 bacterial infectious disease 9.9 H2AC18 CFP C4A
39 fibrosis of extraocular muscles, congenital, 1 9.9
40 malaria 9.9
41 membranous nephropathy 9.9
42 hydrops, lactic acidosis, and sideroblastic anemia 9.9
43 rheumatic fever 9.9
44 acute pancreatitis 9.9
45 pancreatitis 9.9
46 extrinsic allergic alveolitis 9.9
47 lung disease 9.9
48 amyloidosis 9.9
49 meningococcemia 9.9
50 mollaret meningitis 9.9

Graphical network of the top 20 diseases related to Complement Component 5 Deficiency:



Diseases related to Complement Component 5 Deficiency

Symptoms & Phenotypes for Complement Component 5 Deficiency

Human phenotypes related to Complement Component 5 Deficiency:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 seborrheic dermatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001051
3 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
4 abnormality of immune system physiology 58 Very frequent (99-80%)
5 recurrent infections 31 HP:0002719
6 complement deficiency 31 HP:0004431
7 intractable diarrhea 31 HP:0002041
8 recurrent meningitis 31 HP:0006946
9 generalized seborrheic dermatitis 31 HP:0007569

Clinical features from OMIM:

609536

GenomeRNAi Phenotypes related to Complement Component 5 Deficiency according to GeneCards Suite gene sharing:

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.83 C4A C4B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.83 C1QA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.83 C1QA H2AC18
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.83 H2AC18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.83 C1QA C4A C4B H2AC18
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.83 H2AC18
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.83 C1QA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.83 C1QA C4A C4B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.83 C1QA C5AR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.83 C1QA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.83 C4A C4B
12 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.83 C4A C4B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.83 C5AR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.83 C5AR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.83 C1QA C4A C4B C5AR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.83 C5AR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.83 C5AR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.83 C4A C4B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.83 C1QA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.83 C4A C4B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.83 C1QA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.83 C1QA C5AR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.83 C1QA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.83 C4A C4B
25 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.83 C1QA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.83 C1QA
27 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.83 C4A C4B
28 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.83 C4A C4B

Drugs & Therapeutics for Complement Component 5 Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Component 5 Deficiency

Genetic Tests for Complement Component 5 Deficiency

Anatomical Context for Complement Component 5 Deficiency

MalaCards organs/tissues related to Complement Component 5 Deficiency:

40
Skin, T Cells, Liver, Whole Blood, Testes, Neutrophil, Lung

Publications for Complement Component 5 Deficiency

Articles related to Complement Component 5 Deficiency:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. 61 56 6
7730648 1995
2
Linking C5 deficiency to an exonic splicing enhancer mutation. 61 6
15778377 2005
3
C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect. 61 6
15488949 2005
4
Terminal complement component deficiencies in Japan. 61 56
10072634 1998
5
Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families. 61 56
1396929 1992
6
Hereditary deficiency of C5 in association with discoid lupus erythematosus. 61 56
1999552 1991
7
Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon. 61 56
2303408 1990
8
Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred. 61 56
495634 1979
9
Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum. 61 56
777027 1976
10
Lethal congenital erythroderma: a newly recognised genetic disorder. 56
1535034 1992
11
Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency. 56
2962064 1988
12
Meningococcal meningitis in the first case of complement deficiency. 56
2866311 1985
13
Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement. 56
4258194 1972
14
A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5). 56
5411128 1970
15
[On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner]. 56
4223581 1965
16
Experimental Mouse Models of Disseminated Candida auris Infection. 61
31484737 2019
17
Impaired insulin signaling in the B10.D2-Hc0 H2d H2-T18c/oSnJ mouse model of complement factor 5 deficiency. 61
31084499 2019
18
Differential contribution of C5aR and C5b-9 pathways to renal thrombic microangiopathy and macrovascular thrombosis in mice carrying an atypical hemolytic syndrome-related factor H mutation. 61
30910380 2019
19
Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family. 61
30882736 2019
20
Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice. 61
30714990 2019
21
Specific Inhibition of Complement Activation Significantly Ameliorates Autoimmune Blistering Disease in Mice. 61
29616034 2018
22
Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease. 61
28369827 2017
23
Novel Mutations Causing C5 Deficiency in Three North-African Families. 61
27026170 2016
24
Gene expression profiling of Gram-negative bacteria-induced inflammation in human whole blood: The role of complement and CD14-mediated innate immune response. 61
26484252 2015
25
A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases. 61
25534848 2015
26
Chronic gonococcal arthritis with C5 deficiency presenting with brief flare-ups: case study and literature review. 61
24777471 2014
27
[Invasive disease due to Neisseria meningitidis serogroup 29E and C5 deficiency]. 61
24315417 2014
28
Complement factor C5 but not C3 contributes significantly to hydrosalpinx development in mice infected with Chlamydia muridarum. 61
24842924 2014
29
Primary complement C5 deficiencies - molecular characterization and clinical review of two families. 61
23743184 2013
30
Deficiency of complement component 5 ameliorates glaucoma in DBA/2J mice. 61
23806181 2013
31
Complement C3 and C5 deficiency affects fracture healing. 61
24260573 2013
32
Complement factor C5 deficiency significantly delays the progression of biliary fibrosis in bile duct-ligated mice. 61
22277671 2012
33
A defect in the synthesis of Interferon-γ by the T cells of Complement-C5 deficient mice leads to enhanced susceptibility for tuberculosis. 61
22154007 2011
34
Genetic control of susceptibility to infection with Candida albicans in mice. 61
21533108 2011
35
The development of atypical hemolytic uremic syndrome depends on complement C5. 61
21148255 2011
36
A novel role for the fifth component of complement (C5) in cardiac physiology. 61
21829669 2011
37
[Hereditary complement C5 deficiency: study of 3 Tunisian adult cases and literature review]. 61
20446263 2010
38
Molecular characterization of three new mutations causing C5 deficiency in two non-related families. 61
19414197 2009
39
Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability. 61
19375167 2009
40
C5 deficiency and C5a or C5aR blockade protects against cerebral malaria. 61
18426986 2008
41
Complement C5 mediates experimental tubulointerstitial fibrosis. 61
17389734 2007
42
The reduced bactericidal function of complement C5-deficient murine macrophages is associated with defects in the synthesis and delivery of reactive oxygen radicals to mycobacterial phagosomes. 61
16982908 2006
43
[Complement protein hereditary deficits during purulent meningitis: study of 61 adult Tunisian patients]. 61
19388594 2006
44
Genetic control of susceptibility to Candida albicans in susceptible A/J and resistant C57BL/6J mice. 61
16079897 2005
45
Dysregulated inflammatory response to Candida albicans in a C5-deficient mouse strain. 61
15385488 2004
46
The proinflammatory mediators C3a and C5a are essential for liver regeneration. 61
12975457 2003
47
Role of complement C5 and T lymphocytes in pathogenesis of disseminated and mucosal candidiasis in susceptible DBA/2 mice. 61
12623278 2003
48
Identification of complement factor 5 as a susceptibility locus for experimental allergic asthma. 61
10973279 2000
49
The influence of genetic variation on the splenic T cell cytokine and specific serum antibody responses to Porphyromonas gingivalis in mice. 61
10960020 2000
50
[C5 deficiency/dysfunction]. 61
11212690 2000

Variations for Complement Component 5 Deficiency

ClinVar genetic disease variations for Complement Component 5 Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C5 NM_001735.2(C5):c.4426C>T (p.Arg1476Ter)SNV Pathogenic 17051 rs121909588 9:123725027-123725027 9:120962749-120962749
2 C5 NM_001735.2(C5):c.4872_4873delCCinsGindel Pathogenic 17052 rs387906554 9:123716036-123716037 9:120953758-120953759
3 C5 NM_001735.2(C5):c.1115A>G (p.Lys372Arg)SNV Pathogenic 17053 rs587776846 9:123785683-123785683 9:121023405-121023405
4 C5 NM_001317163.2(C5):c.84-3809C>TSNV Pathogenic 17050 rs121909587 9:123812470-123812470 9:121050192-121050192
5 C5 NM_001735.2(C5):c.4336del (p.Val1446fs)deletion Likely pathogenic 517604 rs1554718962 9:123725233-123725233 9:120962955-120962955
6 C5 NM_001735.2(C5):c.1711C>G (p.Leu571Val)SNV Uncertain significance 548014 rs147226792 9:123779926-123779926 9:121017648-121017648
7 C5 NM_001735.2(C5):c.3413G>A (p.Arg1138Gln)SNV Uncertain significance 625902 rs779879112 9:123744195-123744195 9:120981917-120981917

Expression for Complement Component 5 Deficiency

Search GEO for disease gene expression data for Complement Component 5 Deficiency.

Pathways for Complement Component 5 Deficiency

Pathways related to Complement Component 5 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 CR1 CFP CD55 CD46 C5AR2 C5AR1
2
Show member pathways
12.48 CD55 C5 C4A C3
3
Show member pathways
12.1 CR1 CD55 CD46 C5AR2 C5AR1 C5
4
Show member pathways
12.02 CR1 CFP CD55 CD46 C5AR1 C5
5 11.91 C5AR1 C5 C4B C4A C3AR1 C3
6 11.9 CR1 CFHR2 CD55 CD46 C5AR1 C5
7 11.73 C5 C4B C4A C3 C1R C1QA
8
Show member pathways
11.56 CR1 CFP CD55 CD46 C5AR2 C5AR1

GO Terms for Complement Component 5 Deficiency

Cellular components related to Complement Component 5 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 CFP CFHR2 CD55 C5 C4B C4A
2 cell surface GO:0009986 9.65 CR1 CD55 CD46 C5AR1 C3
3 secretory granule membrane GO:0030667 9.5 CR1 CD55 C5AR1
4 extracellular exosome GO:0070062 9.28 H2AC18 CR1 CD55 CD46 C5 C4B
5 blood microparticle GO:0072562 9.26 C4B C4A C3 C1R

Biological processes related to Complement Component 5 Deficiency according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.01 CR1 CD55 CD46 C5 C4B C4A
2 neutrophil degranulation GO:0043312 9.97 CR1 CFP CD55 C5AR1 C3AR1 C3
3 immune response GO:0006955 9.94 CFP C5AR1 C3 C1R
4 viral process GO:0016032 9.93 CR1 CD55 CD46 C1QA
5 inflammatory response GO:0006954 9.91 C5AR2 C5AR1 C5 C4B C4A C3AR1
6 chemotaxis GO:0006935 9.87 C5AR2 C5AR1 C5 C3AR1
7 positive regulation of cytosolic calcium ion concentration GO:0007204 9.86 CD55 C5AR2 C5AR1 C3AR1
8 positive regulation of angiogenesis GO:0045766 9.85 C5AR1 C5 C3AR1 C3
9 innate immune response GO:0045087 9.85 CR1 CFP CD55 CD46 C5 C4B
10 negative regulation of endopeptidase activity GO:0010951 9.84 C5 C4B C4A C3
11 complement activation GO:0006956 9.8 CFP C5 C4B C4A C3 C1R
12 viral entry into host cell GO:0046718 9.77 CR1 CD55 CD46
13 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.76 C5AR2 C5AR1 C3AR1
14 positive regulation of vascular endothelial growth factor production GO:0010575 9.73 C5AR1 C5 C3AR1 C3
15 complement activation, alternative pathway GO:0006957 9.65 CFP C5 C3
16 microglial cell activation GO:0001774 9.63 C5AR1 C1QA
17 positive regulation of apoptotic cell clearance GO:2000427 9.63 C4B C4A C3
18 positive regulation of neutrophil chemotaxis GO:0090023 9.62 C5AR1 C3AR1
19 astrocyte activation GO:0048143 9.62 C5AR1 C1QA
20 complement receptor mediated signaling pathway GO:0002430 9.62 CR1 C5AR2 C5AR1 C3AR1
21 positive regulation of macrophage chemotaxis GO:0010759 9.61 C5AR1 C3AR1
22 amyloid-beta clearance GO:0097242 9.61 C5AR1 C3
23 complement activation, classical pathway GO:0006958 9.61 CR1 CD55 CD46 C5 C4B C4A
24 neuron remodeling GO:0016322 9.6 C3 C1QA
25 complement-mediated synapse pruning GO:0150062 9.58 C3 C1QA
26 vertebrate eye-specific patterning GO:0150064 9.52 C3 C1QA
27 complement component C5a signaling pathway GO:0038178 9.51 C5AR2 C5AR1
28 regulation of complement activation GO:0030449 9.47 CR1 CFP CFHR2 CD55 CD46 C5AR2

Molecular functions related to Complement Component 5 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.43 CR1 CD55 CD46
2 complement receptor activity GO:0004875 9.16 C5AR1 C3AR1
3 complement component C5a receptor activity GO:0004878 8.96 C5AR2 C5AR1
4 endopeptidase inhibitor activity GO:0004866 8.92 C5 C4B C4A C3

Sources for Complement Component 5 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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