MCID: CMP060
MIFTS: 20

Complement Component 9 Deficiency

Categories: Genetic diseases, Immune diseases, Skin diseases

Aliases & Classifications for Complement Component 9 Deficiency

MalaCards integrated aliases for Complement Component 9 Deficiency:

Name: Complement Component 9 Deficiency 57 12 75 29 6 15 40
C9 Deficiency 57 75 73
C9 Deficiency with Dermatomyositis 75 13
C9d 57 75
Complement Component-9 13

Classifications:



External Ids:

OMIM 57 613825
Disease Ontology 12 DOID:0060303
ICD10 33 D84.1
MedGen 42 C3151189
MeSH 44 D007154
UMLS 73 C3151189

Summaries for Complement Component 9 Deficiency

UniProtKB/Swiss-Prot : 75 Complement component 9 deficiency: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis.

MalaCards based summary : Complement Component 9 Deficiency, also known as c9 deficiency, is related to glomerulonephritis and neutropenia. An important gene associated with Complement Component 9 Deficiency is C9 (Complement C9). The drugs Trametinib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Related phenotype is decreased serum complement c9.

Description from OMIM: 613825

Related Diseases for Complement Component 9 Deficiency

Diseases related to Complement Component 9 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glomerulonephritis 9.9
2 neutropenia 9.8
3 dermatomyositis 9.8
4 cervicitis 9.8
5 iga glomerulonephritis 9.8
6 immune-complex glomerulonephritis 9.8
7 complement deficiency 9.8
8 meningitis 9.8

Graphical network of the top 20 diseases related to Complement Component 9 Deficiency:



Diseases related to Complement Component 9 Deficiency

Symptoms & Phenotypes for Complement Component 9 Deficiency

Clinical features from OMIM:

613825

Human phenotypes related to Complement Component 9 Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 decreased serum complement c9 32 HP:0012308

Drugs & Therapeutics for Complement Component 9 Deficiency

Drugs for Complement Component 9 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trametinib Approved Phase 2 871700-17-3 11707110
2 Protein Kinase Inhibitors Phase 2

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

Search NIH Clinical Center for Complement Component 9 Deficiency

Genetic Tests for Complement Component 9 Deficiency

Genetic tests related to Complement Component 9 Deficiency:

# Genetic test Affiliating Genes
1 Complement Component 9 Deficiency 29 C9

Anatomical Context for Complement Component 9 Deficiency

Publications for Complement Component 9 Deficiency

Articles related to Complement Component 9 Deficiency:

# Title Authors Year
1
Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop mutation. ( 21057849 )
2011
2
Complement component 9 deficiency is not a susceptibility factor for SLE. ( 10981651 )
2000

Variations for Complement Component 9 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Complement Component 9 Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 C9 p.Cys119Gly VAR_012648 rs121909593

ClinVar genetic disease variations for Complement Component 9 Deficiency:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 C9 NM_001737.4(C9): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs121909592 GRCh37 Chromosome 5, 39341378: 39341378
2 C9 NM_001737.4(C9): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs121909592 GRCh38 Chromosome 5, 39341276: 39341276
3 C9 NM_001737.4(C9): c.162C> A (p.Cys54Ter) single nucleotide variant Pathogenic/Likely pathogenic rs34000044 GRCh37 Chromosome 5, 39342214: 39342214
4 C9 NM_001737.4(C9): c.162C> A (p.Cys54Ter) single nucleotide variant Pathogenic/Likely pathogenic rs34000044 GRCh38 Chromosome 5, 39342112: 39342112
5 C9 NM_001737.4(C9): c.355T> G (p.Cys119Gly) single nucleotide variant Pathogenic rs121909593 GRCh37 Chromosome 5, 39341369: 39341369
6 C9 NM_001737.4(C9): c.355T> G (p.Cys119Gly) single nucleotide variant Pathogenic rs121909593 GRCh38 Chromosome 5, 39341267: 39341267
7 C9 NM_001737.4(C9): c.1280C> G (p.Ser427Ter) single nucleotide variant Pathogenic rs121909594 GRCh37 Chromosome 5, 39306855: 39306855
8 C9 NM_001737.4(C9): c.1280C> G (p.Ser427Ter) single nucleotide variant Pathogenic rs121909594 GRCh38 Chromosome 5, 39306753: 39306753
9 C9 C9, CYS507TYR undetermined variant Pathogenic
10 C9 C9, ARG133TER undetermined variant Pathogenic
11 C9 NM_001737.4(C9): c.577delT (p.Tyr193Thrfs) deletion Likely pathogenic rs778518669 GRCh37 Chromosome 5, 39331816: 39331816
12 C9 NM_001737.4(C9): c.577delT (p.Tyr193Thrfs) deletion Likely pathogenic rs778518669 GRCh38 Chromosome 5, 39331714: 39331714
13 C9 NM_001737.4(C9): c.133A> T (p.Met45Leu) single nucleotide variant Likely benign rs41271047 GRCh37 Chromosome 5, 39342243: 39342243
14 C9 NM_001737.4(C9): c.133A> T (p.Met45Leu) single nucleotide variant Likely benign rs41271047 GRCh38 Chromosome 5, 39342141: 39342141

Expression for Complement Component 9 Deficiency

Search GEO for disease gene expression data for Complement Component 9 Deficiency.

Pathways for Complement Component 9 Deficiency

GO Terms for Complement Component 9 Deficiency

Sources for Complement Component 9 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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