C6D
MCID: CMP089
MIFTS: 31

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 75 29 6 15 40 73
C6 Deficiency 57 75 13
C6d 57 75
Complement Component 6 Deficiency Subtotal 75
C6 Deficiency, Subtotal 6
C6 Deficiency Subtotal 75

Characteristics:

HPO:

32
complement component 6 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612446
Disease Ontology 12 DOID:0060299
ICD10 33 D84.1
MeSH 44 D007154
SNOMED-CT via HPO 69 258211005 24743004
UMLS 73 C2676232

Summaries for Complement Component 6 Deficiency

UniProtKB/Swiss-Prot : 75 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 Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are complement deficiency and recurrent meningococcal disease

Wikipedia : 76 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

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

Clinical features from OMIM:

612446

Human phenotypes related to Complement Component 6 Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 complement deficiency 32 HP:0004431
2 recurrent meningococcal disease 32 HP:0005381

Drugs & Therapeutics for Complement Component 6 Deficiency

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 2, Phase 3 95058-81-4 60750
2
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
3
Cisplatin Approved Phase 2, Phase 3 15663-27-1 2767 441203 84093
4 Antimetabolites Phase 2, Phase 3
5 Antiviral Agents Phase 2, Phase 3
6 Immunologic Factors Phase 2, Phase 3,Phase 1
7 Antimetabolites, Antineoplastic Phase 2, Phase 3
8 Anti-Infective Agents Phase 2, Phase 3
9 Immunosuppressive Agents 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 Phase 2
15 Complement System Proteins Phase 2
16 Antibodies, Monoclonal Phase 2,Phase 1
17 Immunoglobulin G Phase 2
18 Nitrogen Mustard Compounds Phase 2
19 Bendamustine Hydrochloride Phase 2
20 Alkylating Agents Phase 2
21 Antibodies 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 6442177
26
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
27 Complement C3

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 Phase 2 Trial of Selinexor (KPT-330) for Metastatic Triple Negative Breast Cancer (TNBC) Active, not recruiting NCT02402764 Phase 2 Selinexor
3 Ofatumumab Plus Bendamustine in Frontline and Relapsed Chronic Lymphocytic Leukaemia (CLL) Completed NCT01520922 Phase 2 Bendamustine
4 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
5 Safety and Efficacy Study for Solid Tumor Patients Treated With Eltrombopag Completed NCT01147809 Phase 2 Eltrombopag olamine
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

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 29 C6

Anatomical Context for Complement Component 6 Deficiency

MalaCards organs/tissues related to Complement Component 6 Deficiency:

41
Lung

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 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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