C6D
MCID: CMP089
MIFTS: 39

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 58 12 76 30 6 15 41 74
C6 Deficiency 58 76 13
C6d 58 76
Complement Component 6 Deficiency Subtotal 76
C6 Deficiency, Subtotal 6
C6 Deficiency Subtotal 76
Complement Component-6 13

Characteristics:

HPO:

33
complement component 6 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060299
OMIM 58 612446
MeSH 45 D007154
ICD10 34 D84.1
SNOMED-CT via HPO 70 24743004 258211005
UMLS 74 C2676232

Summaries for Complement Component 6 Deficiency

UniProtKB/Swiss-Prot : 76 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 meningitis and immunodeficiency due to a late component of complement deficiency. 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. The drugs Gemcitabine and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include breast, t cells and kidney, and related phenotypes are complement deficiency and recurrent meningococcal disease

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

Description 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 17)
# Related Disease Score Top Affiliating Genes
1 meningitis 29.2 C6 CCL3 CXCL1
2 immunodeficiency due to a late component of complement deficiency 10.0 C6 LOC105374739
3 oculocutaneous albinism 9.9
4 colitis 9.9
5 albinism 9.9
6 systemic lupus erythematosus 9.8
7 arthritis 9.8
8 meningococcal meningitis 9.8
9 rheumatic disease 9.8
10 neuroaxonal dystrophy 9.8
11 hyperthyroidism 9.8
12 lupus erythematosus 9.8
13 proteasome-associated autoinflammatory syndrome 1 9.8 CCL3 MPO
14 night blindness, congenital stationary, type 1a 9.7 CCL3 CXCL1
15 pulmonary fibrosis, idiopathic 9.5 CCL3 CXCL1
16 pneumonia 9.4 CCL3 CXCL1 MPO
17 asthma 9.3 CCL3 CXCL1 MPO

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:

33
# Description HPO Frequency HPO Source Accession
1 complement deficiency 33 HP:0004431
2 recurrent meningococcal disease 33 HP:0005381

Clinical features from OMIM:

612446

Drugs & Therapeutics for Complement Component 6 Deficiency

Drugs for Complement Component 6 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 2, Phase 3 95058-81-4 60750
2
Cisplatin Approved Phase 2, Phase 3 15663-27-1 2767 441203 84093
3
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
4 Immunologic Factors Phase 2, Phase 3,Phase 1
5 Antimetabolites Phase 2, Phase 3
6 Immunosuppressive Agents Phase 2, Phase 3
7 Antiviral Agents Phase 2, Phase 3
8 Anti-Infective Agents Phase 2, Phase 3
9 Antimetabolites, Antineoplastic Phase 2, Phase 3
10
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
11
rituximab Approved Phase 2 174722-31-7 10201696
12
ofatumumab Approved Phase 2 679818-59-8 6918251
13
Trametinib Approved Phase 2 871700-17-3 11707110
14
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
15 Bendamustine Hydrochloride Phase 2
16 Complement System Proteins Phase 2
17 Alkylating Agents Phase 2
18 Antibodies Phase 2,Phase 1
19 Immunoglobulin G Phase 2
20 Nitrogen Mustard Compounds Phase 2
21 Antibodies, Monoclonal Phase 2,Phase 1
22 Immunoglobulins Phase 2,Phase 1
23 Antineoplastic Agents, Alkylating Phase 2
24 Protein Kinase Inhibitors Phase 2
25
Everolimus Approved Phase 1 159351-69-6 70789204 6442177
26
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 5284616 6436030
27 Antineoplastic Agents, Immunological Phase 1
28
Sunitinib Approved, Investigational 557795-19-4, 341031-54-7 5329102
29 Complement C3
30 Angiogenesis Modulating Agents
31 Angiogenesis Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study Evaluating Chemotherapy With Fractionated Cisplatin/Gemcitabine Versus Carboplatin/Gemcitabine in the Treatment of Advanced or Metastatic Urothelial Cancer With Impaired Renal Function. Recruiting NCT02240017 Phase 2, Phase 3 Carboplatin;Fractionated Cisplatin;Gemcitabine
2 Ofatumumab Plus Bendamustine in Frontline and Relapsed Chronic Lymphocytic Leukaemia (CLL) Completed NCT01520922 Phase 2 Bendamustine
3 Open-label Study to Evaluate the Safety, PK, and PD of MEK Inhibitor GSK1120212 in Subjects With Relapsed or Refractory Leukemias Completed NCT00920140 Phase 2 GSK1120212;GSK1120212
4 Safety and Efficacy Study for Solid Tumor Patients Treated With Eltrombopag Completed NCT01147809 Phase 2 Eltrombopag olamine
5 Phase 2 Trial of Selinexor (KPT-330) for Metastatic Triple Negative Breast Cancer (TNBC) Active, not recruiting NCT02402764 Phase 2 Selinexor
6 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
7 First in Human Evaluation of Safety, Pharmacokinetics, and Clinical Activity of a Monoclonal Antibody Targeting Netrin 1 in Patients With Advanced/Metastatic Solid Tumors Recruiting NCT02977195 Phase 1 NP137
8 Minimal Residual Disease in Peripheral T-cell Lymphoma Recruiting NCT03297697
9 Impact of Sunitinib Bioavailability on Toxicity and Treatment Efficacy in Patients Treated for Metastatic Renal Cancer Not yet recruiting NCT03846128

Search 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 30 C6

Anatomical Context for Complement Component 6 Deficiency

MalaCards organs/tissues related to Complement Component 6 Deficiency:

42
Breast, T Cells, Kidney

Publications for Complement Component 6 Deficiency

Articles related to Complement Component 6 Deficiency:

(show all 32)
# Title Authors Year
1
Late presentation of subtotal C6 deficiency in a patient with recurrent Neisseria meningitides infections. ( 29625666 )
2018
2
Complement component 6 deficiency increases susceptibility to dextran sulfate sodium-induced murine colitis. ( 27316715 )
2016
3
Early Terminal Complement Blockade and C6 Deficiency Are Protective in Enterohemorrhagic Escherichia coli-Infected Mice. ( 27421478 )
2016
4
C6 deficiency does not alter intrinsic regeneration speed after peripheral nerve crush injury. ( 25011063 )
2014
5
Complement component C6 deficiency in a Spanish family: implications for clinical and molecular diagnosis. ( 23537992 )
2013
6
Role of C3a receptors, C5a receptors, and complement protein C6 deficiency in collagen antibody-induced arthritis in mice. ( 22205026 )
2012
7
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. ( 17257682 )
2007
8
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. ( 15565285 )
2005
9
Complement component C6 deficiency and susceptibility to Neisseria meningitidis infections. ( 15211950 )
2004
10
Molecular basis for complement component 6 (C6) deficiency in rats and mice. ( 15568620 )
2004
11
Restricted genetic defects underlie human complement C6 deficiency. ( 12653841 )
2003
12
Deficiencies of the complement MAC II gene cluster (C6, C7, C9): is subtotal C6 deficiency of particular evolutionary benefit? ( 12869019 )
2003
13
Molecular mechanisms of complement component C6 deficiency; a hypervariable exon 6 region responsible for three of six reported defects. ( 10632659 )
2000
14
High prevalence of complement component C6 deficiency among African-Americans in the south-eastern USA. ( 10632667 )
2000
15
Molecular defects leading to human complement component C6 deficiency in an African-American family. ( 9472666 )
1998
16
Complement C6 deficiency protects against diet-induced atherosclerosis in rabbits. ( 9812919 )
1998
17
The molecular basis of C6 deficiency in the western Cape, South Africa. ( 9856498 )
1998
18
Characterization of complement C6 deficiency in a PVG/c rat strain. ( 9276537 )
1997
19
Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals. ( 8690922 )
1996
20
Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. ( 8871666 )
1996
21
Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6. ( 7535801 )
1995
22
Hereditary C6 deficiency in a strain of PVG/c rats. ( 8082303 )
1994
23
Properties of a low molecular weight complement component C6 found in human subjects with subtotal C6 deficiency. ( 1537585 )
1992
24
Prolongation of survival of discordant kidney xenografts by C6 deficiency. ( 2238072 )
1990
25
Meningitis caused by a nonencapsulated strain of Neisseria meningitidis in twin infants with a C6 deficiency. ( 3102634 )
1987
26
Hereditary complement (C6) deficiency associated with systemic lupus erythematosus, Sjögren's syndrome and hyperthyroidism. ( 3430506 )
1987
27
Terminal complement component deficiencies and rheumatic disease: development of a rheumatic syndrome and anticomplementary activity in a patient with complete C6 deficiency. ( 3931570 )
1985
28
C6-deficiency in rabbit serum and its restoration by normal rabbit serum or by normal bovine serum. ( 4038833 )
1985
29
Meningococcal meningitis and complement (C6) deficiency. ( 6579326 )
1983
30
Genetic control of C6 polymorphism and C6 deficiency in rabbits. ( 6172488 )
1982
31
Effects of endotoxin in cortisone-treated rabbits with a hereditary deficiency of the sixth component of complement (C6 deficiency). ( 989643 )
1976
32
Hereditary C6 deficiency in man. ( 807274 )
1975

Variations for Complement Component 6 Deficiency

ClinVar genetic disease variations for Complement Component 6 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C6 C6, IVS15DS, T-C, +2 single nucleotide variant Pathogenic
2 C6 C6, 1-BP DEL, 879G deletion Pathogenic
3 C6 C6, 1-BP DEL, 1195C deletion Pathogenic
4 C6 C6, 1-BP DEL, 1936G deletion Pathogenic
5 C6 NM_000065.3(C6): c.237delC (p.Ile80Serfs) deletion Pathogenic rs398122811 GRCh37 Chromosome 5, 41201723: 41201723
6 C6 NM_000065.3(C6): c.237delC (p.Ile80Serfs) deletion Pathogenic rs398122811 GRCh38 Chromosome 5, 41201621: 41201621
7 C6 NM_000065.3(C6): c.1786C> T (p.Arg596Ter) single nucleotide variant Likely pathogenic rs142881576 GRCh38 Chromosome 5, 41159152: 41159152
8 C6 NM_000065.3(C6): c.1786C> T (p.Arg596Ter) single nucleotide variant Likely pathogenic rs142881576 GRCh37 Chromosome 5, 41159254: 41159254
9 C6 NM_000065.3(C6): c.1879delG (p.Asp627Thrfs) deletion Pathogenic rs61469168 GRCh37 Chromosome 5, 41158865: 41158865
10 C6 NM_000065.3(C6): c.1879delG (p.Asp627Thrfs) deletion Pathogenic rs61469168 GRCh38 Chromosome 5, 41158763: 41158763

Expression for Complement Component 6 Deficiency

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

Pathways for Complement Component 6 Deficiency

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 9.26 CCL3 CXCL1 IL17F MPO
2 extracellular region GO:0005576 9.02 C6 CCL3 CXCL1 IL17F MPO

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.5 C6 CCL3 CXCL1
2 chemotaxis GO:0006935 9.43 CCL3 CXCL1
3 defense response GO:0006952 9.4 CXCL1 MPO
4 neutrophil chemotaxis GO:0030593 9.37 CCL3 CXCL1
5 regulation of signaling receptor activity GO:0010469 9.33 CCL3 CXCL1 IL17F
6 chemokine-mediated signaling pathway GO:0070098 9.26 CCL3 CXCL1
7 inflammatory response GO:0006954 9.13 CCL3 CXCL1 IL17F
8 cytokine-mediated signaling pathway GO:0019221 8.8 CCL3 CXCL1 IL17F

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 CCL3 CXCL1
2 cytokine activity GO:0005125 8.8 CCL3 CXCL1 IL17F

Sources for Complement Component 6 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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