C7D
MCID: CMP087
MIFTS: 37

Complement Component 7 Deficiency (C7D)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Complement Component 7 Deficiency

MalaCards integrated aliases for Complement Component 7 Deficiency:

Name: Complement Component 7 Deficiency 56 12 73 29 6 15 39 71
C7 Deficiency 56 73 13
C7d 56 73

Characteristics:

HPO:

31
complement component 7 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060300
OMIM 56 610102
MeSH 43 D007154
ICD10 32 D84.1
MedGen 41 C1864694
SNOMED-CT via HPO 68 24743004 258211005
UMLS 71 C1864694

Summaries for Complement Component 7 Deficiency

UniProtKB/Swiss-Prot : 73 Complement component 7 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 7 Deficiency, also known as c7 deficiency, is related to meningococcal meningitis and neisseria meningitidis infection. An important gene associated with Complement Component 7 Deficiency is C7 (Complement C7), and among its related pathways/superpathways are Innate Immune System and Allograft rejection. Affiliated tissues include neutrophil and skeletal muscle, and related phenotypes are complement deficiency and recurrent meningococcal disease

Disease Ontology : 12 A complement deficiency that is characterized byrecurrnet bascterial infections, has material basis in mutation in the C7 gene.

More information from OMIM: 610102

Related Diseases for Complement Component 7 Deficiency

Diseases related to Complement Component 7 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 meningococcal meningitis 10.3
2 neisseria meningitidis infection 10.3
3 meningitis 10.2
4 meningococcal infection 10.2
5 bacterial infectious disease 10.1
6 meningococcemia 10.1
7 otitis media 10.1
8 complement component 6 deficiency 10.1
9 exanthem 10.1
10 purpura fulminans 10.1
11 toxic shock syndrome 10.1
12 purpura 10.1
13 complement deficiency 10.1
14 spondyloarthropathy 1 9.9
15 systemic lupus erythematosus 9.9
16 rheumatoid arthritis 9.9
17 autosomal recessive disease 9.9
18 inflammatory spondylopathy 9.9
19 aseptic meningitis 9.9
20 angioedema 9.9
21 vascular disease 9.9
22 glomerulonephritis 9.9
23 pyoderma 9.9
24 pneumonia 9.9
25 spondylitis 9.9
26 pyoderma gangrenosum 9.9
27 mollaret meningitis 9.9
28 autoimmune disease 8.2 PRF1 LCK HSPD1 HLA-DQA1 CD22

Graphical network of the top 20 diseases related to Complement Component 7 Deficiency:



Diseases related to Complement Component 7 Deficiency

Symptoms & Phenotypes for Complement Component 7 Deficiency

Human phenotypes related to Complement Component 7 Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 complement deficiency 31 HP:0004431
2 recurrent meningococcal disease 31 HP:0005381

Clinical features from OMIM:

610102

Drugs & Therapeutics for Complement Component 7 Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Component 7 Deficiency

Genetic Tests for Complement Component 7 Deficiency

Genetic tests related to Complement Component 7 Deficiency:

# Genetic test Affiliating Genes
1 Complement Component 7 Deficiency 29 C7

Anatomical Context for Complement Component 7 Deficiency

MalaCards organs/tissues related to Complement Component 7 Deficiency:

40
Neutrophil, Skeletal Muscle

Publications for Complement Component 7 Deficiency

Articles related to Complement Component 7 Deficiency:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Molecular bases of C7 deficiency: three different defects. 61 56 6
9218625 1997
2
Genetic bases of human complement C7 deficiency. 61 56 6
8892662 1996
3
Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. 61 56 6
8871666 1996
4
Molecular defects of the C7 gene in two patients with complement C7 deficiency. 61 6
16771861 2006
5
Complement component C7 deficiency in two Spanish families. 61 6
15554930 2004
6
Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. 61 56
9856499 1998
7
Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping. 61 56
7523157 1994
8
Fatal pyoderma gangrenosum in association with C7 deficiency. 61 56
1517503 1992
9
Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections. 61 56
2792129 1989
10
Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. 61 56
6859721 1983
11
Familial late complement component (C6, C7) deficiency with chronic meningococcemia. 61 56
7387302 1980
12
Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. 61 56
100562 1978
13
Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family. 61 56
409732 1977
14
Terminal complement component deficiencies in Japan. 56
10072634 1998
15
DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes. 56
1672663 1991
16
Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections. 56
2397612 1990
17
Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews. 56
3685247 1987
18
Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. 56
109025 1979
19
Combined genetic deficiency of C6 and C7 in man. 56
102474 1978
20
Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man. 56
137203 1976
21
Hereditary deficiency of the seventh component of complement. 56
1099121 1975
22
Efficient and Robust Highly Branched Poly(β-amino ester)/Minicircle COL7A1 Polymeric Nanoparticles for Gene Delivery to Recessive Dystrophic Epidermolysis Bullosa Keratinocytes. 61
31390173 2019
23
Manipulation of Transgene Expression in Fibroblast Cells by a Multifunctional Linear-Branched Hybrid Poly(β-Amino Ester) Synthesized through an Oligomer Combination Approach. 61
30565945 2019
24
Diagnosis of primary antibody and complement deficiencies in young adults after a first invasive bacterial infection. 61
28192236 2017
25
Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa. 61
24317394 2014
26
A case of meningococcal sepsis and meningitis with complement 7 deficiency in a military trainee. 61
24265955 2013
27
Meningococcal polysaccharide vaccine failure in a patient with C7 deficiency and a decreased anti-capsular antibody response. 61
22634438 2012
28
Characterization of a large genomic deletion in four Irish families with C7 deficiency. 61
22206826 2012
29
C7 deficiency and meningococcal infection susceptibility in two spanish families. 61
20591074 2010
30
Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited. 61
17407100 2007
31
Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families. 61
16552475 2006
32
[Complement protein hereditary deficits during purulent meningitis: study of 61 adult Tunisian patients]. 61
19388594 2006
33
Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency. 61
15831990 2005
34
[Neisseria meningitidis infection. Clinical criteria orienting towards a deficiency in the proteins of the complement]. 61
15902872 2005
35
Complement C7 deficiency presenting as recurrent aseptic meningitis. 61
15328683 2004
36
Complement component C7 deficiency in a Spanish family. 61
12869030 2003
37
C7 complement deficiency in an Israeli Arab village. 61
12116267 2002
38
High prevalence of complement C7 deficiency among healthy blood donors of Moroccan Jewish ancestry. 61
11252001 2001
39
[Meningococcemia associated with C7 deficiency]. 61
11068366 2000
40
Sublytic complement attack increases intracellular sodium in rat skeletal muscle. 61
10792960 2000
41
[C7 deficiency]. 61
11212692 2000
42
Five new polymorphisms in the complement C7 gene and their association with C7 deficiency. 61
10394053 1999
43
A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency. 61
10319591 1999
44
C7 deficiency in an Irish family: a deletion defect which is predominant in the Irish. 61
9844043 1998
45
DNA haplotypes of the complement C6 and C7 genes associated with deficiencies of the seventh component; and a new DNA polymorphism in C7 exon 13. 61
9365782 1997
46
How partial C7 deficiency with chronic and recurrent bacterial infections can mimic total C7 deficiency: temporary restoration of host C7 levels following plasma transfusion. 61
8774358 1996
47
Complement component C6 and C7 haplotypes associated with deficiencies of C6. 61
7625765 1995
48
Meningococcal disease in patients with late complement component deficiency: studies in the U.S.S.R. 61
8231787 1993
49
[Homozygous C7 defect in a German family]. 61
8326961 1993
50
Neutrophil killing following meningococcal vaccination in patients with C7 deficiency. 61
8167693 1993

Variations for Complement Component 7 Deficiency

ClinVar genetic disease variations for Complement Component 7 Deficiency:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C7 NM_000587.4(C7):c.281-1G>TSNV Pathogenic 225308 rs531103546 5:40936439-40936439 5:40936337-40936337
2 C7 C7, EXON 7-8 DELdeletion Pathogenic 12107
3 C7 NM_000587.4(C7):c.2184T>A (p.Cys728Ter)SNV Pathogenic 12103 rs387906509 5:40979845-40979845 5:40979743-40979743
4 C7 C7, 2-BP DEL, 2137TGdeletion Pathogenic 12104
5 C7 NM_000587.4(C7):c.1561C>A (p.Arg521Ser)SNV Pathogenic 12105 rs121964920 5:40959622-40959622 5:40959520-40959520
6 C7 C7, IVS1, G-A, -1SNV Pathogenic 12106
7 C7 NM_000587.4(C7):c.1135G>C (p.Gly379Arg)SNV Pathogenic 12108 rs121964921 5:40955530-40955530 5:40955428-40955428
8 C7 C7, 1-BP DEL, 1309Adeletion Pathogenic 12109
9 C7 C7, 2-BP DEL, 1922AGdeletion Pathogenic 12110
10 C7 NM_000587.4(C7):c.1458T>A (p.Cys486Ter)SNV Pathogenic 12111 rs121964922 5:40958332-40958332 5:40958230-40958230
11 C7 C7, 11-BP DEL, NT631deletion Pathogenic 12112
12 C7 NM_000587.4(C7):c.317del (p.Asp106fs)deletion Pathogenic 635448 5:40936476-40936476 5:40936374-40936374
13 C7 NM_000587.4(C7):c.2350+1deldeletion Pathogenic 635449 5:40980011-40980011 5:40979909-40979909

UniProtKB/Swiss-Prot genetic disease variations for Complement Component 7 Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 C7 p.Arg220Gln VAR_012643 rs369349760
2 C7 p.Gly379Arg VAR_012644 rs121964921
3 C7 p.Arg521Ser VAR_012645 rs121964920
4 C7 p.Glu682Gln VAR_012646 rs541873000
5 C7 p.Arg687His VAR_012647 rs113187203

Expression for Complement Component 7 Deficiency

Search GEO for disease gene expression data for Complement Component 7 Deficiency.

Pathways for Complement Component 7 Deficiency

Pathways related to Complement Component 7 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 UBE2S UBE2C TRAT1 MUC5B LCK HSPA8
2
Show member pathways
12.46 PRF1 HSPD1 HSPA8 HSP90AA1 HLA-DQA1
3 11.71 UBE4B UBE2S UBE2C
4 11.28 TRAT1 LCK HLA-DQA1
5
Show member pathways
11.16 PRF1 LCK HSP90AA1
6 10.74 HSPA9 HSPA8 HSP90AA1
7
Show member pathways
10.7 HSPA9 HSPA8 HSP90AA1 CP

GO Terms for Complement Component 7 Deficiency

Cellular components related to Complement Component 7 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.36 SOD3 MUC5B LCK HSPD1 HSPA9 HSPA8
2 anaphase-promoting complex GO:0005680 8.96 UBE2S UBE2C

Biological processes related to Complement Component 7 Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 9.56 HSPD1 HSPA9 HSPA8 HSP90AA1
2 cellular response to heat GO:0034605 9.54 HSPA9 HSPA8 HSP90AA1
3 positive regulation of T cell activation GO:0050870 9.52 LCK HSPD1
4 cytolysis GO:0019835 9.51 PRF1 C7
5 regulation of protein complex assembly GO:0043254 9.49 HSPA8 HSP90AA1
6 chaperone-mediated protein complex assembly GO:0051131 9.48 HSPD1 HSP90AA1
7 positive regulation of T cell receptor signaling pathway GO:0050862 9.46 TRAT1 LCK
8 positive regulation of ubiquitin protein ligase activity GO:1904668 9.43 UBE2S UBE2C
9 exit from mitosis GO:0010458 9.4 UBE2S UBE2C
10 chaperone-mediated autophagy GO:0061684 9.32 HSPA8 HSP90AA1
11 response to unfolded protein GO:0006986 9.26 HSPD1 HSPA9 HSPA8 HSP90AA1
12 free ubiquitin chain polymerization GO:0010994 9.16 UBE2S UBE2C
13 protein refolding GO:0042026 8.92 HSPD1 HSPA9 HSPA8 HSP90AA1

Molecular functions related to Complement Component 7 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.86 UBE4B UBE2S UBE2C LCK HSPD1 HSPA9
2 ubiquitin protein ligase binding GO:0031625 9.71 HSPD1 HSPA9 HSPA8 HSP90AA1
3 ATPase activity GO:0016887 9.67 HSPD1 HSPA9 HSPA8 HSP90AA1
4 chaperone binding GO:0051087 9.61 HSPD1 HSPA8 CP
5 MHC class II protein complex binding GO:0023026 9.46 HSPA8 HSP90AA1
6 unfolded protein binding GO:0051082 9.46 HSPD1 HSPA9 HSPA8 HSP90AA1
7 CD4 receptor binding GO:0042609 9.32 LCK CD22
8 protein binding involved in protein folding GO:0044183 9.13 HSPA9 HSPA8 HSP90AA1
9 ATPase activity, coupled GO:0042623 8.8 HSPA9 HSPA8 HSP90AA1

Sources for Complement Component 7 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....