C9D
MCID: CMP060
MIFTS: 32

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 57 12 72 29 6 15 39
C9 Deficiency 57 72 70
C9 Deficiency with Dermatomyositis 72 13
C9d 57 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0060303
OMIM® 57 613825
MeSH 44 D007154
ICD10 32 D84.1
MedGen 41 C3151189
UMLS 70 C3151189

Summaries for Complement Component 9 Deficiency

UniProtKB/Swiss-Prot : 72 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 complement deficiency and meningococcal meningitis. An important gene associated with Complement Component 9 Deficiency is C9 (Complement C9), and among its related pathways/superpathways are AMP-activated Protein Kinase (AMPK) Signaling and Prolactin Signaling Pathway. Affiliated tissues include skeletal muscle, and related phenotypes are decreased serum complement c9 and Increased shRNA abundance (Z-score > 2)

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

Wikipedia : 73 Complement component 9 (C9) is a MACPF protein involved in the complement system, which is part of the... more...

More information 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:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 complement deficiency 10.2
2 meningococcal meningitis 10.0
3 proteinuria, chronic benign 10.0
4 glomerulonephritis 10.0
5 dermatomyositis 9.9
6 bacterial infectious disease 9.9
7 neutropenia 9.9
8 uveitis 9.9
9 iga glomerulonephritis 9.9
10 purpura 9.9
11 myopathy 9.9
12 immune-complex glomerulonephritis 9.9
13 bacterial meningitis 9.9
14 meningitis 9.9
15 idiopathic neutropenia 9.9
16 mollaret meningitis 9.9
17 primary agammaglobulinemia 9.9
18 colorectal adenoma 9.7 LEP CCND1
19 amelogenesis imperfecta, type ig 9.6 LEP CCND1
20 amelogenesis imperfecta 9.6 LEP CCND1
21 pheochromocytoma 9.5 LEP CCND1

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:

31
# Description HPO Frequency HPO Source Accession
1 decreased serum complement c9 31 HP:0012308

Clinical features from OMIM®:

613825 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Complement Component 9 Deficiency according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.77 LEP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.77 LEP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.77 LEP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.77 LEP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.77 CCND1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.77 CCND1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.77 LEP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.77 CCND1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.77 CCND1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.77 CCND1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.77 LEP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.77 LEP
13 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.77 CCND1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.77 LEP

Drugs & Therapeutics for Complement Component 9 Deficiency

Search Clinical Trials , 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

MalaCards organs/tissues related to Complement Component 9 Deficiency:

40
Skeletal Muscle

Publications for Complement Component 9 Deficiency

Articles related to Complement Component 9 Deficiency:

(show all 46)
# Title Authors PMID Year
1
Hereditary complement (C9) deficiency associated with dermatomyositis. 57 6 61
11359403 2001
2
Heterogeneity in the genetic basis of human complement C9 deficiency. 61 6 57
9634479 1998
3
Difficulties in the ascertainment of C9 deficiency: lessons to be drawn from a compound heterozygote C9-deficient subject. 6 57 61
9182899 1997
4
The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure. 61 57 6
9144525 1997
5
Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe. 57 6 61
2241452 1990
6
A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese. 57 6
9570574 1998
7
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. 6 61
28617419 2017
8
Founder effect of the C9 R95X mutation in Orientals. 6 61
12596049 2003
9
Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan. 61 57
10083734 1999
10
Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency. 6 61
9703418 1998
11
Paroxysmal nocturnal haemoglobinuria with coexisting deficiency of the ninth component of complement: lack of massive haemolytic attack. 57 61
2310692 1990
12
Terminal complement component deficiencies in Japan. 57
10072634 1998
13
Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components. 57
7762578 1995
14
The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction. 57
2744767 1989
15
Inherited deficiency of ninth component of complement: an increased risk of meningococcal meningitis. 57
2915285 1989
16
Inherited deficiency of the ninth component of complement in man. 57
7430628 1980
17
Differential contribution of C5aR and C5b-9 pathways to renal thrombic microangiopathy and macrovascular thrombosis in mice carrying an atypical hemolytic syndrome-related factor H mutation. 61
30910380 2019
18
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. 61
22381107 2012
19
Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop mutation. 61
21057849 2011
20
Complement in patients receiving maintenance hemodialysis: functional screening and quantitative analysis. 61
21134272 2010
21
High incidence of complement C9 deficiency in Koreans. 61
15943177 2005
22
An abnormal but functionally active complement component C9 protein found in an Irish family with subtotal C9 deficiency. 61
12603605 2003
23
IgA nephropathy with complement deficiency. 61
11201372 2001
24
Behçet's disease associated with complement component 9 (C9) deficiency. 61
24383644 2000
25
Sublytic complement attack increases intracellular sodium in rat skeletal muscle. 61
10792960 2000
26
[C9 deficiency]. 61
11212695 2000
27
Complement component 9 deficiency is not a susceptibility factor for SLE. 61
10981651 2000
28
The analysis of the complement activation product SC5 b-9 is applicable in neonates in spite of their profound C9 deficiency. 61
10765513 2000
29
The administration of complement component C9 enhances the survival of neonatal rats with Escherichia coli sepsis. 61
9212048 1997
30
C9 deficiency in a patient with poststreptococcal glomerulonephritis. 61
8747118 1995
31
[A case of systemic lupus erythematosus in late component (C9) complement deficiency]. 61
8052928 1994
32
Immune complex glomerulonephritis in a pregnant woman with congenital C9 deficiency. 61
8012078 1993
33
Chronic neutropenia associated with C2 and C9 deficiency. 61
8219785 1993
34
IgA nephropathy in patients with congenital C9 deficiency. 61
1453611 1992
35
[The association between deficiency of terminal complement components and the occurrence of meningococcal meningitis]. 61
1612549 1992
36
Inherited deficiency of the ninth component of complement associated with streptococcal infection. 61
1621522 1992
37
Deficiency of the 9th component of complement (C9) in a patient with systemic lupus erythematosus. 61
2746595 1989
38
Inherited deficiencies of the late-acting complement components other than C9 found among healthy blood donors. 61
2592116 1989
39
[Functional abnormalities of complement in familial and sporadic ankylosing spondylitis]. 61
2764671 1989
40
A high incidence of C9 deficiency among healthy blood donors in Osaka, Japan. 61
2487678 1989
41
High-incidence of C9 deficiency throughout Japan: there are no significant differences in incidence among eight areas of Japan. 61
2613346 1989
42
The occurrence of precipitating antibodies in transfused Japanese patients with hereditary ninth component of complement deficiency and frequency of C9 deficiency. 61
3686657 1987
43
SLE-like and sicca symptoms in late component (C9) complement deficiency. 61
3827337 1987
44
Inherited disorders of complement. 61
6315788 1983
45
Meningococcal meningitis in a women with inherited deficiency of the ninth component of complement. 61
6883811 1983
46
Further studies on C9 deficiency. 61
7265179 1981

Variations for Complement Component 9 Deficiency

ClinVar genetic disease variations for Complement Component 9 Deficiency:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C9 NM_001737.5(C9):c.346C>T (p.Arg116Ter) SNV Pathogenic 17040 rs121909592 GRCh37: 5:39341378-39341378
GRCh38: 5:39341276-39341276
2 C9 NM_001737.5(C9):c.1280C>G (p.Ser427Ter) SNV Pathogenic 17043 rs121909594 GRCh37: 5:39306855-39306855
GRCh38: 5:39306753-39306753
3 C9 C507Y Variation Pathogenic 29659 GRCh37:
GRCh38:
4 C9 C9, ARG133TER Variation Pathogenic 190952 GRCh37:
GRCh38:
5 C9 NM_001737.5(C9):c.375C>A (p.Cys125Ter) SNV Pathogenic 973622 GRCh37: 5:39341349-39341349
GRCh38: 5:39341247-39341247
6 C9 NM_001737.5(C9):c.1042del (p.Ser348fs) Deletion Pathogenic 997517 GRCh37: 5:39311308-39311308
GRCh38: 5:39311206-39311206
7 C9 NM_001737.5(C9):c.355T>G (p.Cys119Gly) SNV Pathogenic 17042 rs121909593 GRCh37: 5:39341369-39341369
GRCh38: 5:39341267-39341267
8 C9 NM_001737.5(C9):c.460C>T (p.Arg154Ter) SNV Pathogenic 1029525 GRCh37: 5:39341264-39341264
GRCh38: 5:39341162-39341162
9 C9 NM_001737.5(C9):c.697_698insTTTTATG (p.Ser233fs) Insertion Pathogenic 1029526 GRCh37: 5:39316049-39316050
GRCh38: 5:39315947-39315948
10 C9 NM_001737.5(C9):c.701del (p.Asn234fs) Deletion Pathogenic 1029527 GRCh37: 5:39316046-39316046
GRCh38: 5:39315944-39315944
11 C9 NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs) Indel Pathogenic 1033862 GRCh37: 5:39311308-39311312
GRCh38: 5:39311206-39311210
12 C9 NM_001737.5(C9):c.721del (p.Ser240_Leu241insTer) Deletion Pathogenic 1033864 GRCh37: 5:39316026-39316026
GRCh38: 5:39315924-39315924
13 C9 NM_001737.5(C9):c.162C>A (p.Cys54Ter) SNV Pathogenic/Likely pathogenic 17041 rs34000044 GRCh37: 5:39342214-39342214
GRCh38: 5:39342112-39342112
14 C9 NM_001737.5(C9):c.577del (p.Tyr193fs) Deletion Likely pathogenic 402245 rs778518669 GRCh37: 5:39331816-39331816
GRCh38: 5:39331714-39331714
15 C9 NM_001737.5(C9):c.355T>G (p.Cys119Gly) SNV Uncertain significance 17042 rs121909593 GRCh37: 5:39341369-39341369
GRCh38: 5:39341267-39341267
16 C9 NM_001737.5(C9):c.1677del (p.Lys559fs) Deletion Uncertain significance 830026 rs762159491 GRCh37: 5:39285304-39285304
GRCh38: 5:39285202-39285202
17 C9 NM_001737.5(C9):c.409G>A (p.Glu137Lys) SNV Uncertain significance 1033863 GRCh37: 5:39341315-39341315
GRCh38: 5:39341213-39341213
18 C9 NM_001737.5(C9):c.133A>T (p.Met45Leu) SNV Likely benign 522196 rs41271047 GRCh37: 5:39342243-39342243
GRCh38: 5:39342141-39342141

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

72
# Symbol AA change Variation ID SNP ID
1 C9 p.Cys119Gly VAR_012648 rs121909593

Expression for Complement Component 9 Deficiency

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

Pathways for Complement Component 9 Deficiency

Pathways related to Complement Component 9 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.71 LEP CCND1
2
Show member pathways
11.61 LEP CCND1
3
Show member pathways
11.35 LEP CCND1
4 10.7 LEP CCND1

GO Terms for Complement Component 9 Deficiency

Biological processes related to Complement Component 9 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.32 LEP CCND1
2 regulation of cell cycle GO:0051726 9.26 LEP CCND1
3 response to ethanol GO:0045471 9.16 LEP CCND1
4 response to estradiol GO:0032355 8.96 LEP CCND1
5 response to vitamin E GO:0033197 8.62 LEP CCND1

Sources for Complement Component 9 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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