C7D
MCID: CMP087
MIFTS: 25

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 58 12 76 30 6 41 74
C7 Deficiency 58 76 13
C7d 58 76
Complement Component-7 13

Characteristics:

HPO:

33
complement component 7 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060300
OMIM 58 610102
MeSH 45 D007154
ICD10 34 D84.1
MedGen 43 C1864694
SNOMED-CT via HPO 70 24743004 258211005
UMLS 74 C1864694

Summaries for Complement Component 7 Deficiency

UniProtKB/Swiss-Prot : 76 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 meningitis and meningococcal meningitis. An important gene associated with Complement Component 7 Deficiency is C7 (Complement C7). The drugs Trametinib and Durvalumab have been mentioned in the context of this disorder. Affiliated tissues include b cells, 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.

Description 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:

# Related Disease Score Top Affiliating Genes
1 meningitis 10.1
2 meningococcal meningitis 10.0
3 meningococcemia 10.0
4 rheumatoid arthritis 9.9
5 arthritis 9.9
6 aseptic meningitis 9.9
7 pyoderma 9.9
8 pyoderma gangrenosum 9.9
9 meningococcal infection 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:

33
# Description HPO Frequency HPO Source Accession
1 complement deficiency 33 HP:0004431
2 recurrent meningococcal disease 33 HP:0005381

Clinical features from OMIM:

610102

Drugs & Therapeutics for Complement Component 7 Deficiency

Drugs for Complement Component 7 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trametinib Approved Phase 2 871700-17-3 11707110
2
Durvalumab Approved, Investigational Phase 2 1428935-60-7
3
Tremelimumab Investigational Phase 2 745013-59-6
4 Protein Kinase Inhibitors Phase 2
5 Antibodies Phase 2,Phase 1
6 Immunologic Factors Phase 2,Phase 1
7 Immunoglobulins Phase 2,Phase 1
8 Antineoplastic Agents, Immunological Phase 2,Phase 1
9 Antibodies, Monoclonal Phase 2,Phase 1
10 Vaccines Phase 2,Phase 1
11 Complement C3 Phase 2
12
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
13
Everolimus Approved Phase 1 159351-69-6 6442177 70789204
14
Coal tar Approved Phase 1 8007-45-2
15
nivolumab Approved Phase 1 946414-94-4
16
Ipilimumab Approved Phase 1 477202-00-9
17
Idelalisib Approved Phase 1 870281-82-6
18
Venetoclax Approved, Investigational Phase 1 1257044-40-8 49846579
19
rituximab Approved Phase 1 174722-31-7 10201696
20 tyrosine Phase 1
21 Poly ICLC Phase 1
22 Poly I-C Phase 1
23 Interferon Inducers Phase 1
24 interferons Phase 1
25 Antibodies, Blocking Phase 1
26 Antirheumatic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 PolyImmune {Durvalumab (MEDI4736) and Tremelimumab} & Vaccine Orchestrated Treatment for Patients With Advanced/Metastatic Renal Cell Carcinoma Not yet recruiting NCT03598816 Phase 2 Durvalumab;Tremelimumab
3 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
4 Escalating Dose Study in Subjects With Relapsed or Refractory B Cell Non-Hodgkin Lymphoma, Chronic Lymphocytic Leukemia, and Waldenstrom's Macroglobulinemia Completed NCT01351935 Phase 1 AVL-292
5 Neoantigen-based Personalized Vaccine Combined With Immune Checkpoint Blockade Therapy in Patients With Newly Diagnosed, Unmethylated Glioblastoma Recruiting NCT03422094 Phase 1
6 Rituximab, Idelalisib, and Venetoclax in Relapsed/Refractory CLL Not yet recruiting NCT03639324 Phase 1 Rituximab, Idelalisib, and Venetoclax

Search 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 30 C7

Anatomical Context for Complement Component 7 Deficiency

MalaCards organs/tissues related to Complement Component 7 Deficiency:

42
B Cells

Publications for Complement Component 7 Deficiency

Articles related to Complement Component 7 Deficiency:

# Title Authors Year
1
A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency. ( 10319591 )
1999

Variations for Complement Component 7 Deficiency

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

76
# 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

ClinVar genetic disease variations for Complement Component 7 Deficiency:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 C7 NM_000587.3(C7): c.2184T> A (p.Cys728Ter) single nucleotide variant Pathogenic rs387906509 GRCh37 Chromosome 5, 40979845: 40979845
2 C7 NM_000587.3(C7): c.2184T> A (p.Cys728Ter) single nucleotide variant Pathogenic rs387906509 GRCh38 Chromosome 5, 40979743: 40979743
3 C7 C7, 2-BP DEL, 2137TG deletion Pathogenic
4 C7 NM_000587.3(C7): c.1561C> A (p.Arg521Ser) single nucleotide variant Pathogenic rs121964920 GRCh37 Chromosome 5, 40959622: 40959622
5 C7 NM_000587.3(C7): c.1561C> A (p.Arg521Ser) single nucleotide variant Pathogenic rs121964920 GRCh38 Chromosome 5, 40959520: 40959520
6 C7 C7, IVS1, G-A, -1 single nucleotide variant Pathogenic
7 C7 C7, EXON 7-8 DEL deletion Pathogenic
8 C7 NM_000587.3(C7): c.1135G> C (p.Gly379Arg) single nucleotide variant Pathogenic rs121964921 GRCh37 Chromosome 5, 40955530: 40955530
9 C7 NM_000587.3(C7): c.1135G> C (p.Gly379Arg) single nucleotide variant Pathogenic rs121964921 GRCh38 Chromosome 5, 40955428: 40955428
10 C7 C7, 1-BP DEL, 1309A deletion Pathogenic
11 C7 C7, 2-BP DEL, 1922AG deletion Pathogenic
12 C7 NM_000587.3(C7): c.1458T> A (p.Cys486Ter) single nucleotide variant Pathogenic rs121964922 GRCh37 Chromosome 5, 40958332: 40958332
13 C7 NM_000587.3(C7): c.1458T> A (p.Cys486Ter) single nucleotide variant Pathogenic rs121964922 GRCh38 Chromosome 5, 40958230: 40958230
14 C7 C7, 11-BP DEL, NT631 deletion Pathogenic
15 C7 NM_000587.3(C7): c.281-1G> T single nucleotide variant Pathogenic rs531103546 GRCh37 Chromosome 5, 40936439: 40936439
16 C7 NM_000587.3(C7): c.281-1G> T single nucleotide variant Pathogenic rs531103546 GRCh38 Chromosome 5, 40936337: 40936337

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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