C6D
MCID: C6D001
MIFTS: 37

C6 Deficiency (C6D) malady

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for C6 Deficiency

Aliases & Descriptions for C6 Deficiency:

Name: C6 Deficiency 54 66 13
Complement Component 6 Deficiency 12 66 29 14 69
Complement Component 6 Deficiency Subtotal 66
C6 Deficiency Subtotal 66
C6d 66

Characteristics:

HPO:

32
c6 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612446
Disease Ontology 12 DOID:0060299
ICD10 33 D84.1
MeSH 42 D007154

Summaries for C6 Deficiency

UniProtKB/Swiss-Prot : 66 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 : C6 Deficiency, also known as complement component 6 deficiency, is related to subcorneal pustular dermatosis and bare lymphocyte syndrome, type i, and has symptoms including abnormality of metabolism/homeostasis, complement deficiency and recurrent meningococcal disease. An important gene associated with C6 Deficiency is C6 (Complement C6), and among its related pathways/superpathways are Innate Immune System and IL-17 Family Signaling Pathways. The drugs Carboplatin and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Wikipedia : 71 Complement component 6 is a protein that in humans is encoded by the C6... more...

Description from OMIM: 612446

Related Diseases for C6 Deficiency

Graphical network of the top 20 diseases related to C6 Deficiency:



Diseases related to C6 Deficiency

Symptoms & Phenotypes for C6 Deficiency

Clinical features from OMIM:

612446

Human phenotypes related to C6 Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 complement deficiency 32 HP:0004431
3 recurrent meningococcal disease 32 HP:0005381

Drugs & Therapeutics for C6 Deficiency

Drugs for C6 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
id 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
Daratumumab Approved Phase 2 945721-28-8
10
nivolumab Approved Phase 2 946414-94-4
11 Antibodies Phase 2
12 Antibodies, Monoclonal Phase 2
13 Immunoglobulins Phase 2
14 Cola Nutraceutical Phase 2
15 tyrosine Nutraceutical Phase 2
16
Everolimus Approved Phase 1 159351-69-6 6442177
17
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
18
Iron Approved 7439-89-6 23925
19
Zinc Approved 7440-66-6 32051 23994
20
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
21
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
22 Hematinics
23 Micronutrients
24 Trace Elements
25 Vitamin B Complex
26 Vitamins
27 Folate Nutraceutical
28 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
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
2 An Investigational Immuno-therapy Study of Nivolumab, and Nivolumab in Combination With Other Anti-cancer Drugs, in Colon Cancer That Has Come Back or Has Spread Recruiting NCT02060188 Phase 2
3 Phase 2 Trial of Selinexor (KPT-330) for Metastatic Triple Negative Breast Cancer (TNBC) Active, not recruiting NCT02402764 Phase 2
4 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1
5 Impact of Zinc Supplementation on Mortality and Hospitalizations in Children Aged 1 Months to 23 Months Completed NCT00269542

Search NIH Clinical Center for C6 Deficiency

Genetic Tests for C6 Deficiency

Genetic tests related to C6 Deficiency:

id Genetic test Affiliating Genes
1 Complement Component 6 Deficiency 29

Anatomical Context for C6 Deficiency

MalaCards organs/tissues related to C6 Deficiency:

39
Kidney

Publications for C6 Deficiency

Articles related to C6 Deficiency:

(show all 28)
id Title Authors Year
1
Early Terminal Complement Blockade and C6 Deficiency Are Protective in Enterohemorrhagic Escherichia coli-Infected Mice. ( 27421478 )
2016
2
C6 deficiency does not alter intrinsic regeneration speed after peripheral nerve crush injury. ( 25011063 )
2014
3
Complement component C6 deficiency in a Spanish family: implications for clinical and molecular diagnosis. ( 23537992 )
2013
4
Role of C3a receptors, C5a receptors, and complement protein C6 deficiency in collagen antibody-induced arthritis in mice. ( 22205026 )
2012
5
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
6
Molecular basis for complement component 6 (C6) deficiency in rats and mice. ( 15568620 )
2004
7
Complement component C6 deficiency and susceptibility to Neisseria meningitidis infections. ( 15211950 )
2004
8
Deficiencies of the complement MAC II gene cluster (C6, C7, C9): is subtotal C6 deficiency of particular evolutionary benefit? ( 12869019 )
2003
9
Restricted genetic defects underlie human complement C6 deficiency. ( 12653841 )
2003
10
High prevalence of complement component C6 deficiency among African-Americans in the south-eastern USA. ( 10632667 )
2000
11
Molecular mechanisms of complement component C6 deficiency; a hypervariable exon 6 region responsible for three of six reported defects. ( 10632659 )
2000
12
The molecular basis of C6 deficiency in the western Cape, South Africa. ( 9856498 )
1998
13
Complement C6 deficiency protects against diet-induced atherosclerosis in rabbits. ( 9812919 )
1998
14
Molecular defects leading to human complement component C6 deficiency in an African-American family. ( 9472666 )
1998
15
Characterization of complement C6 deficiency in a PVG/c rat strain. ( 9276537 )
1997
16
Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals. ( 8690922 )
1996
17
Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6. ( 7535801 )
1995
18
Hereditary C6 deficiency in a strain of PVG/c rats. ( 8082303 )
1994
19
Properties of a low molecular weight complement component C6 found in human subjects with subtotal C6 deficiency. ( 1537585 )
1992
20
Inherited neuroaxonal dystrophy in C6 deficient rabbits. ( 1517772 )
1992
21
Prolongation of survival of discordant kidney xenografts by C6 deficiency. ( 2238072 )
1990
22
Hereditary complement (C6) deficiency associated with systemic lupus erythematosus, SjAPgren's syndrome and hyperthyroidism. ( 3430506 )
1987
23
Meningitis caused by a nonencapsulated strain of Neisseria meningitidis in twin infants with a C6 deficiency. ( 3102634 )
1987
24
Terminal complement component deficiencies and rheumatic disease: development of a rheumatic syndrome and anticomplementary activity in a patient with complete C6 deficiency. ( 3931570 )
1985
25
Meningococcal meningitis and complement (C6) deficiency. ( 6579326 )
1983
26
Genetic control of C6 polymorphism and C6 deficiency in rabbits. ( 6172488 )
1982
27
Effects of endotoxin in cortisone-treated rabbits with a hereditary deficiency of the sixth component of complement (C6 deficiency). ( 989643 )
1976
28
Hereditary C6 deficiency in man. ( 807274 )
1975

Variations for C6 Deficiency

ClinVar genetic disease variations for C6 Deficiency:

6
id 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.1786C> T (p.Arg596Ter) single nucleotide variant Likely pathogenic rs142881576 GRCh38 Chromosome 5, 41159152: 41159152

Expression for C6 Deficiency

Search GEO for disease gene expression data for C6 Deficiency.

Pathways for C6 Deficiency

GO Terms for C6 Deficiency

Cellular components related to C6 Deficiency according to GeneCards Suite gene sharing:

id 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 C6 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.4 CXCL1 MPO
2 chemotaxis GO:0006935 9.37 CCL3 CXCL1
3 immune response GO:0006955 9.33 C6 CCL3 CXCL1
4 defense response GO:0006952 9.32 CXCL1 MPO
5 chemokine-mediated signaling pathway GO:0070098 9.26 CCL3 CXCL1
6 cell chemotaxis GO:0060326 8.96 CCL3 CXCL1
7 inflammatory response GO:0006954 8.8 CCL3 CXCL1 IL17F

Molecular functions related to C6 Deficiency according to GeneCards Suite gene sharing:

id 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 C6 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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