C7D
MCID: CMP087
MIFTS: 19

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 75 29 6 40 73
C7 Deficiency 57 75 13
C7d 57 75
Complement Component-7 13

Characteristics:

HPO:

32
complement component 7 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610102
Disease Ontology 12 DOID:0060300
ICD10 33 D84.1
MedGen 42 C1864694
MeSH 44 D007154
SNOMED-CT via HPO 69 258211005 24743004
UMLS 73 C1864694

Summaries for Complement Component 7 Deficiency

UniProtKB/Swiss-Prot : 75 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 Tremelimumab have been mentioned in the context of this disorder. Related phenotypes are complement deficiency and recurrent meningococcal disease

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

Clinical features from OMIM:

610102

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

Drugs & Therapeutics for Complement Component 7 Deficiency

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PolyImmune {Durvalumab (MEDI4736) and Tremelimumab} & Vaccine Orchestrated Treatment for Patients With Advanced/Metastatic Renal Cell Carcinoma Not yet recruiting NCT03598816 Phase 2 Durvalumab;Tremelimumab
2 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
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 29 C7

Anatomical Context for Complement Component 7 Deficiency

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:

75
# 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 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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