C6D
MCID: CMP089
MIFTS: 38

Complement Component 6 Deficiency (C6D)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Complement Component 6 Deficiency

MalaCards integrated aliases for Complement Component 6 Deficiency:

Name: Complement Component 6 Deficiency 57 12 72 29 6 15 39 70
C6 Deficiency 57 72 13
C6d 57 72
Complement Component 6 Deficiency Subtotal 72
C6 Deficiency, Subtotal 6
C6 Deficiency Subtotal 72

Characteristics:

HPO:

31
complement component 6 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060299
OMIM® 57 612446
MeSH 44 D007154
ICD10 32 D84.1
SNOMED-CT via HPO 68 258211005
UMLS 70 C2676232

Summaries for Complement Component 6 Deficiency

UniProtKB/Swiss-Prot : 72 Complement component 6 deficiency: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

MalaCards based summary : Complement Component 6 Deficiency, also known as c6 deficiency, is related to meningococcal meningitis and meningitis. An important gene associated with Complement Component 6 Deficiency is C6 (Complement C6), and among its related pathways/superpathways are Innate Immune System and Immune response IL-23 signaling pathway. Affiliated tissues include spinal cord, endothelial and neutrophil, and related phenotypes are recurrent meningococcal disease and reduced hemolytic complement activity

Disease Ontology : 12 A complement deficiency that is characterized by recurrnet bascterial infections, has material basis in mutation in the C6 gene.

More information from OMIM: 612446

Related Diseases for Complement Component 6 Deficiency

Diseases related to Complement Component 6 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 meningococcal meningitis 30.4 C8B C6
2 meningitis 29.3 CXCL1 CCL3 C8B
3 neisseria meningitidis infection 10.2
4 immunodeficiency due to a late component of complement deficiency 10.1 C8B C6
5 complement deficiency 10.1
6 albinism, oculocutaneous, type iv 10.0
7 oculocutaneous albinism 10.0
8 colitis 10.0
9 albinism 10.0
10 meningococcal infection 10.0
11 conjunctival folliculosis 9.9 MPO CXCL1
12 klebsiella pneumonia 9.9 IL17F CXCL1
13 tonsillitis 9.8 MPO CXCL1
14 systemic lupus erythematosus 9.8
15 complement component 7 deficiency 9.8
16 brucellosis 9.8
17 hemolytic-uremic syndrome 9.8
18 shwartzman phenomenon 9.8
19 connective tissue disease 9.8
20 hyperthyroidism 9.8
21 lupus erythematosus 9.8
22 granulocytopenia 9.8
23 wallerian degeneration 9.8
24 spinal cord injury 9.8
25 bronchopneumonia 9.8 MPO CCL3
26 pleurisy 9.8 MPO CCL3
27 mast-cell leukemia 9.8 MPO CCL3
28 proliferative glomerulonephritis 9.7 MPO CCL3
29 crescentic glomerulonephritis 9.7 MPO CCL3
30 ectodermal dysplasia 1, hypohidrotic, x-linked 9.7 MPO CCL3
31 extrinsic allergic alveolitis 9.7 MPO CCL3
32 proteasome-associated autoinflammatory syndrome 1 9.6 MPO CCL3
33 bacterial pneumonia 9.5 CXCL1 CCL3
34 behcet syndrome 9.5 MPO IL17F CCL3
35 peritonitis 9.5 MPO CXCL1 CCL3
36 pneumonia 9.5 MPO CXCL1 CCL3
37 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.5 MPO CCL3
38 pulmonary fibrosis, idiopathic 9.4 MPO CXCL1 CCL3
39 inflammatory bowel disease 9.2 MPO IL17F CXCL1 CCL3
40 asthma 9.1 MPO IL17F CXCL1 CCL3

Graphical network of the top 20 diseases related to Complement Component 6 Deficiency:



Diseases related to Complement Component 6 Deficiency

Symptoms & Phenotypes for Complement Component 6 Deficiency

Human phenotypes related to Complement Component 6 Deficiency:

31
# Description HPO 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 c6 31 very rare (1%) HP:0033059

Clinical features from OMIM®:

612446 (Updated 20-May-2021)

Drugs & Therapeutics for Complement Component 6 Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Component 6 Deficiency

Genetic Tests for Complement Component 6 Deficiency

Genetic tests related to Complement Component 6 Deficiency:

# Genetic test Affiliating Genes
1 Complement Component 6 Deficiency 29 C6

Anatomical Context for Complement Component 6 Deficiency

MalaCards organs/tissues related to Complement Component 6 Deficiency:

40
Spinal Cord, Endothelial, Neutrophil, Brain, Kidney

Publications for Complement Component 6 Deficiency

Articles related to Complement Component 6 Deficiency:

(show top 50) (show all 100)
# Title Authors PMID Year
1
The molecular basis of C6 deficiency in the western Cape, South Africa. 61 57 6
9856498 1998
2
Molecular defects leading to human complement component C6 deficiency in an African-American family. 57 6 61
9472666 1998
3
Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals. 57 6 61
8690922 1996
4
Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6. 61 57 6
7535801 1995
5
Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. 6 57
8871666 1996
6
Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans. 6 61
22288589 2012
7
Restricted genetic defects underlie human complement C6 deficiency. 61 6
12653841 2003
8
Human deficiency of the sixth component of complement in a patient with meningococcal meningitis and no haemostasis abnormality. 57 61
6783144 1980
9
Genetic polymorphism of serum complement components in the chimpanzee. 61 57
22457919 1980
10
Recurrent meningococcal meningitis with absence of the sixth component of complement: an evaluation of underlying immunologic mechanisms. 61 57
492812 1979
11
Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies. 57 61
11344568 1974
12
Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis. 61 57
11344569 1974
13
A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 6
19434484 2009
14
[Further study on heterogeneic basis of complement C8 beta deficiency]. 6
14767900 2004
15
Terminal complement component deficiencies in Japan. 57
10072634 1998
16
Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. 6
7594510 1995
17
A physical map of the C6 and C7 complement component gene region on chromosome 5p13. 57
8364540 1993
18
Genetic basis of human complement C8 beta deficiency. 6
8098723 1993
19
Arthritis and antinuclear antibodies (ANA) with inherited deficiency of the sixth component of complement (C6). 57
3487293 1986
20
Prevalence of congenital or acquired complement deficiency in patients with sporadic meningococcal disease. 57
6835295 1983
21
A lupus-like syndrome in a patient with deficiency of the sixth component of complement. 57
7317125 1981
22
Complement C6 deficiency exacerbates pathophysiology after spinal cord injury. 61
33177623 2020
23
Clinical implications of C6 complement component deficiency. 61
32867893 2020
24
Recurrent meningococcal meningitis with complement 6 (C6) deficiency: A case report. 61
32481330 2020
25
Novel pathogenic mutations identified in the first Chinese pedigree of complete C6 deficiency. 61
32670577 2020
26
Delayed Generalized Necrotic Purpuric Rash in a C6-deficient 12-year-old Girl Treated for Group W Meningococcal Disease. 61
29474263 2018
27
Late presentation of subtotal C6 deficiency in a patient with recurrent Neisseria meningitides infections. 61
29625666 2018
28
Invasive meningococcal disease due to a non-capsulated Neisseria meningitidis strain in a patient with IgG4-related disease. 61
29606119 2018
29
Complement component 6 deficiency increases susceptibility to dextran sulfate sodium-induced murine colitis. 61
27316715 2016
30
Early Terminal Complement Blockade and C6 Deficiency Are Protective in Enterohemorrhagic Escherichia coli-Infected Mice. 61
27421478 2016
31
C5b-9 does not mediate tubulointerstitial injury in experimental acute glomerular disease characterized by selective proteinuria. 61
27152265 2016
32
C6 deficiency does not alter intrinsic regeneration speed after peripheral nerve crush injury. 61
25011063 2014
33
Complement component C6 deficiency in a Spanish family: implications for clinical and molecular diagnosis. 61
23537992 2013
34
Complement component C5 and C6 mutation screening indicated in meningococcal disease in South Africa. 61
22668955 2012
35
Role of C3a receptors, C5a receptors, and complement protein C6 deficiency in collagen antibody-induced arthritis in mice. 61
22205026 2012
36
Complement protein 6 deficiency in PVG/c rats does not lead to neuroprotection against seizure induced cell death. 61
21575686 2011
37
Complement component c1q mediates mitochondria-driven oxidative stress in neonatal hypoxic-ischemic brain injury. 61
20147536 2010
38
The membrane attack complex of complement drives the progression of atherosclerosis in apolipoprotein E knockout mice. 61
19959238 2010
39
Complement membrane attack complex formation and infectivity of Trichinella spiralis and T. nativa in rats. 61
19038499 2009
40
Inhibition of the membrane attack complex of complement for induction of accommodation in the hamster-to-rat heart transplant model. 61
17991145 2007
41
Hereditary complement deficiency and lupus: report of four Tunisian cases. 61
17893986 2007
42
Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family. 61
17257682 2007
43
[Complement protein hereditary deficits during purulent meningitis: study of 61 adult Tunisian patients]. 61
19388594 2006
44
Loxosceles sphingomyelinase induces complement-dependent dermonecrosis, neutrophil infiltration, and endogenous gelatinase expression. 61
15816830 2005
45
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. 61
15565285 2005
46
C5b-9 does not mediate chronic tubulointerstitial disease in the absence of proteinuria. 61
15673297 2005
47
Terminal complement components mediate release of von Willebrand factor and adhesion of platelets in arteries of allografts. 61
15699756 2005
48
C5b-9 regulates peritubular myofibroblast accumulation in experimental focal segmental glomerulosclerosis. 61
15496154 2004
49
Complement component C6 deficiency and susceptibility to Neisseria meningitidis infections. 61
15211950 2004
50
Molecular basis for complement component 6 (C6) deficiency in rats and mice. 61
15568620 2004

Variations for Complement Component 6 Deficiency

ClinVar genetic disease variations for Complement Component 6 Deficiency:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C6 NM_000065.5(C6):c.1138del (p.Gln380fs) Deletion Pathogenic 997513 GRCh37: 5:41176607-41176607
GRCh38: 5:41176505-41176505
2 C6 NM_000065.5(C6):c.821del (p.Gln274fs) Deletion Pathogenic 998343 GRCh37: 5:41181567-41181567
GRCh38: 5:41181465-41181465
3 C6 NM_000065.5(C6):c.107C>A (p.Ser36Ter) SNV Pathogenic 1032162 GRCh37: 5:41203226-41203226
GRCh38: 5:41203124-41203124
4 C6 NM_000065.5(C6):c.1352dup (p.Tyr451Ter) Duplication Pathogenic 1032163 GRCh37: 5:41161900-41161901
GRCh38: 5:41161798-41161799
5 C6 NM_000065.5(C6):c.1743T>G (p.Tyr581Ter) SNV Pathogenic 1032164 GRCh37: 5:41159297-41159297
GRCh38: 5:41159195-41159195
6 C8B NM_000066.4(C8B):c.271C>T (p.Gln91Ter) SNV Pathogenic 35594 rs146187042 GRCh37: 1:57422562-57422562
GRCh38: 1:56956889-56956889
7 C8B NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) SNV Pathogenic 17038 rs41286844 GRCh37: 1:57406638-57406638
GRCh38: 1:56940965-56940965
8 C6 NM_000065.4(C6):c.2381+2T>C SNV Pathogenic 379370 rs76202909 GRCh37: 5:41150035-41150035
GRCh38: 5:41149933-41149933
9 C6 C6, IVS15DS, T-C, +2 SNV Pathogenic 12114 GRCh37:
GRCh38:
10 C6 C6, 1-BP DEL, 879G Deletion Pathogenic 12115 GRCh37:
GRCh38:
11 C6 C6, 1-BP DEL, 1195C Deletion Pathogenic 12116 GRCh37:
GRCh38:
12 C6 C6, 1-BP DEL, 1936G Deletion Pathogenic 12117 GRCh37:
GRCh38:
13 C6 NM_000065.4(C6):c.237del (p.Ile80fs) Deletion Pathogenic 29922 rs398122811 GRCh37: 5:41201723-41201723
GRCh38: 5:41201621-41201621
14 C6 NM_000065.4(C6):c.1879del (p.Asp627fs) Deletion Pathogenic 505659 rs61469168 GRCh37: 5:41158865-41158865
GRCh38: 5:41158763-41158763
15 C6 NM_000065.4(C6):c.2049C>G (p.Tyr683Ter) SNV Likely pathogenic 800939 rs867425110 GRCh37: 5:41155126-41155126
GRCh38: 5:41155024-41155024
16 C6 NM_000065.5(C6):c.1786C>T (p.Arg596Ter) SNV Likely pathogenic 208565 rs142881576 GRCh37: 5:41159254-41159254
GRCh38: 5:41159152-41159152
17 C6 NM_000065.5(C6):c.143G>A (p.Arg48Lys) SNV Uncertain significance 996839 GRCh37: 5:41203190-41203190
GRCh38: 5:41203088-41203088

Expression for Complement Component 6 Deficiency

Search GEO for disease gene expression data for Complement Component 6 Deficiency.

Pathways for Complement Component 6 Deficiency

Pathways related to Complement Component 6 Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 MPO IL17F CXCL1 CCL3 C8B C6
2
Show member pathways
11.97 MPO IL17F CXCL1
3
Show member pathways
11.67 C8B C6
4 11.66 C8B C6
5 11.5 CXCL1 CCL3
6 11.47 CXCL1 C8B
7 11.4 CXCL1 CCL3
8
Show member pathways
11.37 IL17F CXCL1
9
Show member pathways
11.28 C8B C6
10 11.01 CXCL1 CCL3
11 10.66 IL17F CXCL1
12 9.83 MPO CCL3

GO Terms for Complement Component 6 Deficiency

Cellular components related to Complement Component 6 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.55 MPO IL17F CXCL1 CCL3 C8B
2 extracellular region GO:0005576 9.1 MPO IL17F CXCL1 CCL3 C8B C6
3 membrane attack complex GO:0005579 8.96 C8B C6

Biological processes related to Complement Component 6 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.61 IL17F C8B C6
2 regulation of complement activation GO:0030449 9.46 C8B C6
3 inflammatory response GO:0006954 9.43 IL17F CXCL1 CCL3
4 complement activation GO:0006956 9.4 C8B C6
5 neutrophil chemotaxis GO:0030593 9.37 CXCL1 CCL3
6 cytokine-mediated signaling pathway GO:0019221 9.33 IL17F CXCL1 CCL3
7 chemokine-mediated signaling pathway GO:0070098 9.32 CXCL1 CCL3
8 cytolysis GO:0019835 8.96 C8B C6
9 immune response GO:0006955 8.92 CXCL1 CCL3 C8B C6

Molecular functions related to Complement Component 6 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemokine activity GO:0008009 8.96 CXCL1 CCL3
2 cytokine activity GO:0005125 8.8 IL17F CXCL1 CCL3

Sources for Complement Component 6 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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