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 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

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 Carboplatin and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include breast and t cells, 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.

Wikipedia : 77 Complement component 6 is a protein that in humans is encoded by the C6... more...

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

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

Publications for Complement Component 6 Deficiency

Articles related to Complement Component 6 Deficiency:

# 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
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. ( 15565285 )
2005

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 NM_000065.3(C6): c.1786C> T (p.Arg596Ter) single nucleotide variant Likely pathogenic rs142881576 GRCh38 Chromosome 5, 41159152: 41159152
2 C6 NM_000065.3(C6): c.1786C> T (p.Arg596Ter) single nucleotide variant Likely pathogenic rs142881576 GRCh37 Chromosome 5, 41159254: 41159254
3 C6 C6, IVS15DS, T-C, +2 single nucleotide variant Pathogenic
4 C6 C6, 1-BP DEL, 879G deletion Pathogenic
5 C6 C6, 1-BP DEL, 1195C deletion Pathogenic
6 C6 C6, 1-BP DEL, 1936G deletion Pathogenic
7 C6 NM_000065.3(C6): c.237delC (p.Ile80Serfs) deletion Pathogenic rs398122811 GRCh37 Chromosome 5, 41201723: 41201723
8 C6 NM_000065.3(C6): c.237delC (p.Ile80Serfs) deletion Pathogenic rs398122811 GRCh38 Chromosome 5, 41201621: 41201621

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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