MCID: CMP089
MIFTS: 36

Complement Component 6 Deficiency

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 oculocutaneous albinism and colitis. 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 t cells and breast, and related phenotypes are complement deficiency and recurrent meningococcal disease

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 11)
# Related Disease Score Top Affiliating Genes
1 oculocutaneous albinism 9.8
2 colitis 9.8
3 meningitis 9.8
4 albinism 9.8
5 autoinflammation, lipodystrophy, and dermatosis syndrome 9.7 CCL3 MPO
6 night blindness, congenital stationary, type 1a 9.5 CCL3 CXCL1
7 lung disease 9.5 CCL3 MPO
8 pulmonary fibrosis, idiopathic 9.0 CCL3 CXCL1
9 pneumonia 8.8 CCL3 CXCL1 MPO
10 inflammatory bowel disease 8.7 CXCL1 IL17F MPO
11 asthma 8.6 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

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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
2
Cisplatin Approved Phase 2, Phase 3 15663-27-1 84093 441203 2767
3
Gemcitabine Approved Phase 2, Phase 3 95058-81-4 60750
4 Anti-Infective Agents Phase 2, Phase 3
5 Antimetabolites Phase 2, Phase 3
6 Antimetabolites, Antineoplastic Phase 2, Phase 3
7 Antiviral Agents Phase 2, Phase 3
8 Immunosuppressive Agents Phase 2, Phase 3
9
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
10
rituximab Approved Phase 2 174722-31-7 10201696
11
Trametinib Approved Phase 2 871700-17-3 11707110
12 Alkylating Agents Phase 2
13 Antibodies Phase 2,Phase 1
14 Antibodies, Monoclonal Phase 2,Phase 1
15 Antineoplastic Agents, Alkylating Phase 2
16 Bendamustine Hydrochloride Phase 2
17 Complement System Proteins Phase 2
18 Immunoglobulin G Phase 2
19 Immunoglobulins Phase 2,Phase 1
20 Nitrogen Mustard Compounds Phase 2
21 Protein Kinase Inhibitors Phase 2
22 tyrosine Nutraceutical Phase 2
23
Everolimus Approved Phase 1 159351-69-6 6442177
24
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
25 Complement C3 Not Applicable

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 Not Applicable

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
T Cells, Breast

Publications for Complement Component 6 Deficiency

Articles related to Complement Component 6 Deficiency:

# Title Authors Year
1
Complement component 6 deficiency increases susceptibility to dextran sulfate sodium-induced murine colitis. ( 27316715 )
2016
2
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 9.54 C6 CCL3 CXCL1
2 chemotaxis GO:0006935 9.43 CCL3 CXCL1
3 defense response GO:0006952 9.4 CXCL1 MPO
4 regulation of signaling receptor activity GO:0010469 9.33 CCL3 CXCL1 IL17F
5 cell chemotaxis GO:0060326 9.32 CCL3 CXCL1
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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