C7D
MCID: CMP087
MIFTS: 28

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 57 12 74 29 6 40 72
C7 Deficiency 57 74 13
C7d 57 74

Characteristics:

HPO:

32
complement component 7 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060300
OMIM 57 610102
MeSH 44 D007154
ICD10 33 D84.1
MedGen 42 C1864694
UMLS 72 C1864694

Summaries for Complement Component 7 Deficiency

UniProtKB/Swiss-Prot : 74 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). 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 29)
# 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 arthritis 9.9
27 pyoderma gangrenosum 9.9
28 mollaret meningitis 9.9
29 basement membrane disease 9.9

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:

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

41
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. 38 8 71
9218625 1997
2
Genetic bases of human complement C7 deficiency. 38 8 71
8892662 1996
3
Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. 38 8 71
8871666 1996
4
Molecular defects of the C7 gene in two patients with complement C7 deficiency. 38 71
16771861 2006
5
Complement component C7 deficiency in two Spanish families. 38 71
15554930 2004
6
Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. 38 8
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. 38 8
7523157 1994
8
Fatal pyoderma gangrenosum in association with C7 deficiency. 38 8
1517503 1992
9
Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections. 38 8
2792129 1989
10
Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. 38 8
6859721 1983
11
Familial late complement component (C6, C7) deficiency with chronic meningococcemia. 38 8
7387302 1980
12
Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. 38 8
100562 1978
13
Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family. 38 8
409732 1977
14
Terminal complement component deficiencies in Japan. 8
10072634 1998
15
DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes. 8
1672663 1991
16
Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections. 8
2397612 1990
17
Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews. 8
3685247 1987
18
Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. 8
109025 1979
19
Combined genetic deficiency of C6 and C7 in man. 8
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. 8
137203 1976
21
Hereditary deficiency of the seventh component of complement. 8
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. 38
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. 38
30565945 2019
24
Diagnosis of primary antibody and complement deficiencies in young adults after a first invasive bacterial infection. 38
28192236 2017
25
Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa. 38
24317394 2014
26
A case of meningococcal sepsis and meningitis with complement 7 deficiency in a military trainee. 38
24265955 2013
27
Meningococcal polysaccharide vaccine failure in a patient with C7 deficiency and a decreased anti-capsular antibody response. 38
22634438 2012
28
Characterization of a large genomic deletion in four Irish families with C7 deficiency. 38
22206826 2012
29
C7 deficiency and meningococcal infection susceptibility in two spanish families. 38
20591074 2010
30
Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited. 38
17407100 2007
31
Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families. 38
16552475 2006
32
[Complement protein hereditary deficits during purulent meningitis: study of 61 adult Tunisian patients]. 38
19388594 2006
33
Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency. 38
15831990 2005
34
[Neisseria meningitidis infection. Clinical criteria orienting towards a deficiency in the proteins of the complement]. 38
15902872 2005
35
Complement C7 deficiency presenting as recurrent aseptic meningitis. 38
15328683 2004
36
Complement component C7 deficiency in a Spanish family. 38
12869030 2003
37
C7 complement deficiency in an Israeli Arab village. 38
12116267 2002
38
High prevalence of complement C7 deficiency among healthy blood donors of Moroccan Jewish ancestry. 38
11252001 2001
39
[Meningococcemia associated with C7 deficiency]. 38
11068366 2000
40
Sublytic complement attack increases intracellular sodium in rat skeletal muscle. 38
10792960 2000
41
[C7 deficiency]. 38
11212692 2000
42
A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency. 38
10319591 1999
43
Five new polymorphisms in the complement C7 gene and their association with C7 deficiency. 38
10394053 1999
44
C7 deficiency in an Irish family: a deletion defect which is predominant in the Irish. 38
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. 38
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. 38
8774358 1996
47
Complement component C6 and C7 haplotypes associated with deficiencies of C6. 38
7625765 1995
48
Meningococcal disease in patients with late complement component deficiency: studies in the U.S.S.R. 38
8231787 1993
49
[Homozygous C7 defect in a German family]. 38
8326961 1993
50
Neutrophil killing following meningococcal vaccination in patients with C7 deficiency. 38
8167693 1993

Variations for Complement Component 7 Deficiency

ClinVar genetic disease variations for Complement Component 7 Deficiency:

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C7 C7, EXON 7-8 DEL deletion Pathogenic
2 C7 NM_000587.4(C7): c.2184T> A (p.Cys728Ter) single nucleotide variant Pathogenic rs387906509 5:40979845-40979845 5:40979743-40979743
3 C7 C7, 2-BP DEL, 2137TG deletion Pathogenic
4 C7 NM_000587.4(C7): c.1561C> A (p.Arg521Ser) single nucleotide variant Pathogenic rs121964920 5:40959622-40959622 5:40959520-40959520
5 C7 C7, IVS1, G-A, -1 single nucleotide variant Pathogenic
6 C7 NM_000587.4(C7): c.1135G> C (p.Gly379Arg) single nucleotide variant Pathogenic rs121964921 5:40955530-40955530 5:40955428-40955428
7 C7 C7, 1-BP DEL, 1309A deletion Pathogenic
8 C7 C7, 2-BP DEL, 1922AG deletion Pathogenic
9 C7 NM_000587.4(C7): c.1458T> A (p.Cys486Ter) single nucleotide variant Pathogenic rs121964922 5:40958332-40958332 5:40958230-40958230
10 C7 C7, 11-BP DEL, NT631 deletion Pathogenic
11 C7 NM_000587.4(C7): c.281-1G> T single nucleotide variant Pathogenic rs531103546 5:40936439-40936439 5:40936337-40936337
12 C7 NM_000587.4(C7): c.317del (p.Asp106fs) deletion Pathogenic 5:40936476-40936476 5:40936374-40936374
13 C7 NM_000587.4(C7): c.2350+1del deletion Pathogenic 5:40980012-40980012 5:40979910-40979910

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

74
# 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

GO Terms for Complement Component 7 Deficiency

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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