C5D
MCID: CMP007
MIFTS: 45

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 57 12 20 72 29 6 15 70
C5 Deficiency 57 12 72 13
C5d 57 72
Erythroderma Desquamativum 58
Leiner Disease 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
complement component 5 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:8158
OMIM® 57 609536
MeSH 44 D007154
NCIt 50 C9469
ICD10 via Orphanet 33 L21.1
Orphanet 58 ORPHA314
MedGen 41 C0343047
SNOMED-CT via HPO 68 258211005
UMLS 70 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 meningitis. An important gene associated with Complement Component 5 Deficiency is C5 (Complement C5), and among its related pathways/superpathways are Innate Immune System and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Affiliated tissues include whole blood, t cells and neutrophil, and related phenotypes are recurrent meningococcal disease and reduced hemolytic complement activity

UniProtKB/Swiss-Prot : 72 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 : 73 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 88)
# Related Disease Score Top Affiliating Genes
1 meningococcal meningitis 29.9 CFP CFHR2
2 meningitis 29.7 CFP CD55 CD46 C3
3 neisseria meningitidis infection 29.5 CFP CD46 C3
4 complement deficiency 27.9 CFP CFHR2 CD55 CD46 C5AR1 C5
5 glomerulonephritis 27.8 CFP CD55 CD46 C4B C4A C3
6 seborrheic infantile dermatitis 11.3
7 leiner disease 11.3
8 pneumococcal meningitis 10.3 C5 C3
9 retinal drusen 10.2 CFHR2 C3
10 acute proliferative glomerulonephritis 10.2 C5AR1 C3
11 autoimmune disease of urogenital tract 10.2 H2AC18 CFHR2
12 mannose-binding lectin deficiency 10.2 CFP C5AR1
13 anti-basement membrane glomerulonephritis 10.2 CFP CFHR2
14 diffuse glomerulonephritis 10.2 CFP C3
15 dense deposit disease 10.2 CFHR2 C5 C3
16 scarlet fever 10.1 CFP C3
17 multicentric castleman disease 10.1 H2AC18 CFHR2
18 henoch-schoenlein purpura 10.1 CFHR2 C3
19 omenn syndrome 10.1
20 biotin deficiency 10.1
21 skin disease 10.1
22 seborrheic dermatitis 10.1
23 streptococcus pneumonia 10.1 CFHR2 C3
24 autoimmune disease of musculoskeletal system 10.1 H2AC18 CFHR2 C3
25 eye degenerative disease 10.1 H2AC18 CFHR2 C3
26 hemoglobinuria 10.1 CD55 C5 C3
27 atypical hemolytic uremic syndrome with complement gene abnormality 10.1 CD46 C3
28 rapidly progressive glomerulonephritis 10.1 CFP C5 C3
29 paroxysmal nocturnal hemoglobinuria 10.1 CD55 C5 C3
30 juvenile dermatitis herpetiformis 10.0 C4B C4A
31 genetic atypical hemolytic-uremic syndrome 10.0 CD46 C3
32 arthus reaction 10.0 CD46 C5AR1
33 enterocolitis 10.0 CD46 C3
34 variola minor 10.0 CD55 CD46
35 capillary leak syndrome 10.0 C4A C3
36 epilepsy, familial temporal lobe, 2 10.0 C4B C4A
37 necrotizing fasciitis 10.0 H2AC18 CD46
38 goodpasture syndrome 10.0 H2AC18 CFP
39 dermatitis 10.0
40 lyme disease 10.0 CFHR2 C4A C3
41 meningococcal infection 10.0
42 acute poststreptococcal glomerulonephritis 9.9 CFP CFHR2 C5 C3
43 complement component 2 deficiency 9.9 C4B C4A
44 anemia, autoimmune hemolytic 9.9 CD55 C3
45 progressive relapsing multiple sclerosis 9.9 H2AC18 CFP CFHR2 C3
46 felty syndrome 9.9 H2AC18 C4B C4A
47 congenital hemolytic anemia 9.9 H2AC18 CD46 C3
48 louse-borne relapsing fever 9.9 C4B C4A C3
49 immune-complex glomerulonephritis 9.9 H2AC18 CFHR2 C4B C3
50 pediatric systemic lupus erythematosus 9.9 C4B C4A C3

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:

31 58 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent meningococcal disease 31 very rare (1%) HP:0005381
2 reduced hemolytic complement activity 31 very rare (1%) HP:0025434
3 decreased serum complement c5 31 very rare (1%) HP:0033060
4 failure to thrive 58 Very frequent (99-80%)
5 abnormality of immune system physiology 58 Very frequent (99-80%)
6 seborrheic dermatitis 58 Very frequent (99-80%)
7 recurrent infections 31 HP:0002719
8 diarrhea 58 Very frequent (99-80%)
9 intractable diarrhea 31 HP:0002041
10 generalized seborrheic dermatitis 31 HP:0007569

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
systemic lupus erythematosus
recurrent n. meningitidis infection
recurrent extragenital n. gonorrhoeae infection

Laboratory Abnormalities:
decreased ch50 (total hemolytic complement activity)
decreased ah50 (alternative pathway complement activity)
decreased-absent c5

Clinical features from OMIM®:

609536 (Updated 20-May-2021)

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.98 C1QA C5AR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.98 C4A C4B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.98 C5AR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.98 C5AR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.98 C1QA C5AR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.98 C5AR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.98 C4A C4B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.98 C1QA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.98 C1QA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.98 C1QA C5AR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.98 C1QA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.98 C4A C4B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.98 C1QA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.98 C1QA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.98 C1QA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.98 C4A C4B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.98 C4A C4B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.98 H2AC18
19 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.98 H2AC18

MGI Mouse Phenotypes related to Complement Component 5 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.61 C1QA C3 C3AR1 C4B C5 C5AR1
2 renal/urinary system MP:0005367 9.1 C1QA C3 C3AR1 C4B C5 CD55

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

Genetic tests related to Complement Component 5 Deficiency:

# Genetic test Affiliating Genes
1 Complement Component 5 Deficiency 29 C5

Anatomical Context for Complement Component 5 Deficiency

MalaCards organs/tissues related to Complement Component 5 Deficiency:

40
Whole Blood, T Cells, Neutrophil, Eye, Skin, Temporal Lobe

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 6 57
7730648 1995
2
Linking C5 deficiency to an exonic splicing enhancer mutation. 6 61
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. 57 61
10072634 1998
5
Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families. 61 57
1396929 1992
6
Hereditary deficiency of C5 in association with discoid lupus erythematosus. 57 61
1999552 1991
7
Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon. 61 57
2303408 1990
8
Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred. 61 57
495634 1979
9
Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum. 57 61
777027 1976
10
Lethal congenital erythroderma: a newly recognised genetic disorder. 57
1535034 1992
11
Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency. 57
2962064 1988
12
Meningococcal meningitis in the first case of complement deficiency. 57
2866311 1985
13
Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement. 57
4258194 1972
14
A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5). 57
5411128 1970
15
[On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner]. 57
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
A novel role for the fifth component of complement (C5) in cardiac physiology. 61
21829669 2011
36
The development of atypical hemolytic uremic syndrome depends on complement C5. 61
21148255 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 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C5 NM_001735.2(C5):c.55C>T (p.Gln19Ter) SNV Pathogenic 17050 rs121909587 GRCh37: 9:123812470-123812470
GRCh38: 9:121050192-121050192
2 C5 NM_001735.2(C5):c.4426C>T (p.Arg1476Ter) SNV Pathogenic 17051 rs121909588 GRCh37: 9:123725027-123725027
GRCh38: 9:120962749-120962749
3 C5 NM_001735.2(C5):c.1115A>G (p.Lys372Arg) SNV Pathogenic 17053 rs587776846 GRCh37: 9:123785683-123785683
GRCh38: 9:121023405-121023405
4 C5 NM_001735.3(C5):c.3840T>A (p.Tyr1280Ter) SNV Pathogenic 1033859 GRCh37: 9:123739002-123739002
GRCh38: 9:120976724-120976724
5 C5 NM_001735.2(C5):c.4872_4873delCCinsG Indel Pathogenic 17052 rs387906554 GRCh37: 9:123716036-123716037
GRCh38: 9:120953758-120953759
6 C5 NM_001735.2(C5):c.4336del (p.Val1446fs) Deletion Likely pathogenic 517604 rs1554718962 GRCh37: 9:123725233-123725233
GRCh38: 9:120962955-120962955
7 C5 NM_001735.2(C5):c.1711C>G (p.Leu571Val) SNV Uncertain significance 548014 rs147226792 GRCh37: 9:123779926-123779926
GRCh38: 9:121017648-121017648
8 C5 NM_001735.2(C5):c.3413G>A (p.Arg1138Gln) SNV Uncertain significance 625902 rs779879112 GRCh37: 9:123744195-123744195
GRCh38: 9:120981917-120981917
9 C5 NM_001735.3(C5):c.65C>T (p.Thr22Ile) SNV Uncertain significance 1033860 GRCh37: 9:123812460-123812460
GRCh38: 9:121050182-121050182
10 C5 NM_001735.3(C5):c.754G>A (p.Ala252Thr) SNV Uncertain significance 1009377 GRCh37: 9:123792679-123792679
GRCh38: 9:121030401-121030401
11 C5 NM_001735.3(C5):c.95G>A (p.Arg32His) SNV Uncertain significance 1033861 GRCh37: 9:123808632-123808632
GRCh38: 9:121046354-121046354
12 C5 NM_001735.3(C5):c.989T>C (p.Ile330Thr) SNV Likely benign 982690 GRCh37: 9:123787743-123787743
GRCh38: 9:121025465-121025465

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
13.78 CFP CD55 CD46 C5AR2 C5AR1 C5
2
Show member pathways
13.51 H2AC18 C5AR1 C5 C4B C4A C3
3
Show member pathways
13.47 C5AR1 C5 C4B C4A C3AR1 C3
4
Show member pathways
12.52 CD55 C5 C4A C3
5
Show member pathways
12.06 CD55 CD46 C5AR2 C5AR1 C5 C4B
6 11.91 C5AR1 C5 C4B C4A C3AR1 C3
7 11.86 CFHR2 CD55 CD46 C5AR1 C5 C4B
8
Show member pathways
11.77 CFP CD55 C5 C4B C4A C3
9 11.73 C5 C4B C4A C3 C1R C1QA
10
Show member pathways
11.6 CFP CD55 CD46 C5AR2 C5AR1 C5

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 exosome GO:0070062 9.76 H2AC18 CD55 CD46 C5 C4B C4A
2 extracellular region GO:0005576 9.28 CFP CFHR2 CD55 C5 C4B C4A
3 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 26)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.97 CFP CD55 C5AR1 C3AR1 C3
2 immune system process GO:0002376 9.97 CFP CD55 CD46 C5 C4B C4A
3 immune response GO:0006955 9.92 CFP C5AR1 C3 C1R
4 inflammatory response GO:0006954 9.91 C5AR2 C5AR1 C5 C4B C4A C3AR1
5 innate immune response GO:0045087 9.91 CFP CD55 CD46 C5 C4B C4A
6 positive regulation of cytosolic calcium ion concentration GO:0007204 9.86 CD55 C5AR2 C5AR1 C3AR1
7 chemotaxis GO:0006935 9.85 C5AR2 C5AR1 C5 C3AR1
8 positive regulation of angiogenesis GO:0045766 9.83 C5AR1 C5 C3AR1 C3
9 negative regulation of endopeptidase activity GO:0010951 9.81 C5 C4B C4A C3
10 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.76 C5AR2 C5AR1 C3AR1
11 positive regulation of vascular endothelial growth factor production GO:0010575 9.71 C5AR1 C5 C3AR1 C3
12 complement activation GO:0006956 9.7 CFP C5 C4B C4A C3 C1R
13 complement activation, alternative pathway GO:0006957 9.65 CFP C5 C3
14 microglial cell activation GO:0001774 9.63 C5AR1 C1QA
15 complement receptor mediated signaling pathway GO:0002430 9.63 C5AR2 C5AR1 C3AR1
16 positive regulation of neutrophil chemotaxis GO:0090023 9.62 C5AR1 C3AR1
17 positive regulation of macrophage chemotaxis GO:0010759 9.61 C5AR1 C3AR1
18 astrocyte activation GO:0048143 9.61 C5AR1 C1QA
19 positive regulation of apoptotic cell clearance GO:2000427 9.61 C4B C4A C3
20 amyloid-beta clearance GO:0097242 9.6 C5AR1 C3
21 neuron remodeling GO:0016322 9.59 C3 C1QA
22 complement-mediated synapse pruning GO:0150062 9.57 C3 C1QA
23 complement activation, classical pathway GO:0006958 9.56 CD55 CD46 C5 C4B C4A C3
24 vertebrate eye-specific patterning GO:0150064 9.54 C3 C1QA
25 complement component C5a signaling pathway GO:0038178 9.49 C5AR2 C5AR1
26 regulation of complement activation GO:0030449 9.44 CFP CFHR2 CD55 CD46 C5AR2 C5AR1

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

# Name GO ID Score Top Affiliating Genes
1 complement component C5a receptor activity GO:0004878 9.16 C5AR2 C5AR1
2 complement receptor activity GO:0004875 9.13 C5AR2 C5AR1 C3AR1
3 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
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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