C9D
MCID: CMP060
MIFTS: 25

Complement Component 9 Deficiency (C9D)

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 58 12 76 30 6 15 41
C9 Deficiency 58 76 74
C9 Deficiency with Dermatomyositis 76 13
C9d 58 76
Complement Component-9 13

Classifications:



External Ids:

Disease Ontology 12 DOID:0060303
OMIM 58 613825
MeSH 45 D007154
ICD10 34 D84.1
MedGen 43 C3151189
UMLS 74 C3151189

Summaries for Complement Component 9 Deficiency

UniProtKB/Swiss-Prot : 76 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 Durvalumab have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotype is decreased serum complement c9.

Disease Ontology : 12 A complement deficiency that is characterized by recurrnet bascterial infections, has material basis in mutation in the C9 gene.

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 10.1
2 neutropenia 9.9
3 dermatomyositis 9.9
4 iga glomerulonephritis 9.9
5 immune-complex glomerulonephritis 9.9
6 complement deficiency 9.9
7 meningitis 9.9

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

Human phenotypes related to Complement Component 9 Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 decreased serum complement c9 33 HP:0012308

Clinical features from OMIM:

613825

Drugs & Therapeutics for Complement Component 9 Deficiency

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

(show all 11)
# 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 Complement C3 Phase 2
6 Vaccines Phase 2
7 Immunoglobulins Phase 2
8 Immunologic Factors Phase 2
9 Antineoplastic Agents, Immunological Phase 2
10 Antibodies Phase 2
11 Antibodies, Monoclonal 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
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

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 30 C9

Anatomical Context for Complement Component 9 Deficiency

MalaCards organs/tissues related to Complement Component 9 Deficiency:

42
Skin

Publications for Complement Component 9 Deficiency

Articles related to Complement Component 9 Deficiency:

(show all 24)
# Title Authors Year
1
Successful pregnancy in a patient suffering from recurrent mid-trimester miscarriage with C9 deficiency after receiving cervical cerclage followed by clindamycin and progesterone: a case report. ( 22381107 )
2012
2
Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop mutation. ( 21057849 )
2011
3
High incidence of complement C9 deficiency in Koreans. ( 15943177 )
2005
4
An abnormal but functionally active complement component C9 protein found in an Irish family with subtotal C9 deficiency. ( 12603605 )
2003
5
Founder effect of the C9 R95X mutation in Orientals. ( 12596049 )
2003
6
Hereditary complement (C9) deficiency associated with dermatomyositis. ( 11359403 )
2001
7
Complement component 9 deficiency is not a susceptibility factor for SLE. ( 10981651 )
2000
8
The analysis of the complement activation product SC5 b-9 is applicable in neonates in spite of their profound C9 deficiency. ( 10765513 )
2000
9
Behçet's disease associated with complement component 9 (C9) deficiency. ( 24383644 )
2000
10
Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan. ( 10083734 )
1999
11
Heterogeneity in the genetic basis of human complement C9 deficiency. ( 9634479 )
1998
12
Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency. ( 9703418 )
1998
13
A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese. ( 9570574 )
1998
14
Difficulties in the ascertainment of C9 deficiency: lessons to be drawn from a compound heterozygote C9-deficient subject. ( 9182899 )
1997
15
The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure. ( 9144525 )
1997
16
C9 deficiency in a patient with poststreptococcal glomerulonephritis. ( 8747118 )
1995
17
Immune complex glomerulonephritis in a pregnant woman with congenital C9 deficiency. ( 8012078 )
1993
18
Chronic neutropenia associated with C2 and C9 deficiency. ( 8219785 )
1993
19
IgA nephropathy in patients with congenital C9 deficiency. ( 1453611 )
1992
20
Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe. ( 2241452 )
1990
21
A high incidence of C9 deficiency among healthy blood donors in Osaka, Japan. ( 2487678 )
1989
22
High-incidence of C9 deficiency throughout Japan: there are no significant differences in incidence among eight areas of Japan. ( 2613346 )
1989
23
The occurrence of precipitating antibodies in transfused Japanese patients with hereditary ninth component of complement deficiency and frequency of C9 deficiency. ( 3686657 )
1987
24
Further studies on C9 deficiency. ( 7265179 )
1981

Variations for Complement Component 9 Deficiency

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

76
# 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 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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