Aliases & Classifications for C5 Deficiency

MalaCards integrated aliases for C5 Deficiency:

Name: C5 Deficiency 54 12 24 71 13
Complement Component 5 Deficiency 12 71 14 69
Complement Component-5 13
C5d 71

Characteristics:

HPO:

32
c5 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 609536
Disease Ontology 12 DOID:8158
NCIt 47 C9469
MedGen 40 C0343047
MeSH 42 D007154
SNOMED-CT via HPO 65 258211005 24743004

Summaries for C5 Deficiency

UniProtKB/Swiss-Prot : 71 Complement component 5 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 : C5 Deficiency, also known as complement component 5 deficiency, is related to leiner disease and autosomal thrombocytopenia with normal platelets, and has symptoms including recurrent infections, recurrent meningitis and complement deficiency. An important gene associated with C5 Deficiency is C5 (Complement C5), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. The drugs Dermatologic Agents and Emollients have been mentioned in the context of this disorder. Affiliated tissues include t cells and liver.

Description from OMIM: 609536

Related Diseases for C5 Deficiency

Diseases related to C5 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
id Related Disease Score Top Affiliating Genes
1 leiner disease 10.9
2 autosomal thrombocytopenia with normal platelets 10.0 C5 C9
3 gastric cardia carcinoma 9.9 C5 CFP
4 meningitis 9.9
5 blackwater fever 9.8 C5 CFP
6 amyloidosis 9.7
7 meningococcal infection 9.7
8 malaria 9.7
9 arthritis 9.7
10 meningococcal meningitis 9.7
11 acute pancreatitis 9.7
12 cerebritis 9.7
13 pancreatitis 9.7
14 mucositis 9.6 C9 CFP
15 polyposis, juvenile intestinal 7.5 C1R C5 C9 CFP RDH11 RGS2

Graphical network of the top 20 diseases related to C5 Deficiency:



Diseases related to C5 Deficiency

Symptoms & Phenotypes for C5 Deficiency

Clinical features from OMIM:

609536

Human phenotypes related to C5 Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 recurrent infections 32 HP:0002719
2 recurrent meningitis 32 HP:0006946
3 complement deficiency 32 HP:0004431
4 intractable diarrhea 32 HP:0002041
5 generalized seborrheic dermatitis 32 HP:0007569

Drugs & Therapeutics for C5 Deficiency

Drugs for C5 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents Phase 4
2 Emollients Phase 4
3
Everolimus Approved Phase 1 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Promiseb Topical Cream for Cradle Cap Completed NCT01214434 Phase 4
2 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
3 Minimal Residual Disease in Peripheral T-cell Lymphoma Recruiting NCT03297697

Search NIH Clinical Center for C5 Deficiency

Genetic Tests for C5 Deficiency

Genetic tests related to C5 Deficiency:

id Genetic test Affiliating Genes
1 C5 Deficiency 24 C5

Anatomical Context for C5 Deficiency

MalaCards organs/tissues related to C5 Deficiency:

39
T Cells, Liver

Publications for C5 Deficiency

Articles related to C5 Deficiency:

(show all 21)
id Title Authors Year
1
Novel Mutations Causing C5 Deficiency in Three North-African Families. ( 27026170 )
2016
2
Chronic gonococcal arthritis with C5 deficiency presenting with brief flare-ups: case study and literature review. ( 24777471 )
2014
3
Complement C3 and C5 deficiency affects fracture healing. ( 24260573 )
2013
4
Complement factor C5 deficiency significantly delays the progression of biliary fibrosis in bile duct-ligated mice. ( 22277671 )
2012
5
Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability. ( 19375167 )
2009
6
Molecular characterization of three new mutations causing C5 deficiency in two non-related families. ( 19414197 )
2009
7
C5 deficiency and C5a or C5aR blockade protects against cerebral malaria. ( 18426986 )
2008
8
Linking C5 deficiency to an exonic splicing enhancer mutation. ( 15778377 )
2005
9
Complement component C5 deficiency reduces edema formation in murine ligation-induced acute pancreatitis. ( 9070179 )
1997
10
Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. ( 7730648 )
1995
11
C5 deficiency in a patient with primary SjAPgren's syndrome. ( 7562780 )
1995
12
Phenotypically similar clones of serogroup B Neisseria meningitidis causing recurrent meningitis in a patient with total C5 deficiency. ( 7806892 )
1994
13
Recurrent meningococcal infections in a patient with congenital C5 deficiency. ( 8388602 )
1993
14
C5 deficiency in A/J mice is not associated with resistance to the development of secondary amyloidosis. ( 1477093 )
1992
15
Chronic meningococcal meningitis. An association with C5 deficiency. ( 3132125 )
1988
16
C5 deficiency and meningitis in a Swiss family. ( 3341877 )
1988
17
C5 deficiency in a white family. ( 4015289 )
1985
18
Biosynthesis of a single chain pro-C5 by normal mouse liver mRNA: analysis of the molecular basis of C5 deficiency in AKR/J mice. ( 489986 )
1979
19
Linkage for a locus of human complement C5 deficiency to the complement C6 structural locus. ( 21302062 )
1978
20
C5 deficiency in one atopic family. ( 871347 )
1977
21
Hereditary C5 deficiency in man: genetic linkage studies. ( 886187 )
1977

Variations for C5 Deficiency

ClinVar genetic disease variations for C5 Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 GRCh38 Chromosome 9, 121050192: 121050192
2 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 GRCh37 Chromosome 9, 123725027: 123725027
3 C5 NM_001735.2(C5): c.4872_4873delCCinsG (p.Leu1625Serfs) indel Pathogenic rs387906554 GRCh37 Chromosome 9, 123716036: 123716037
4 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 GRCh37 Chromosome 9, 123785683: 123785683

Expression for C5 Deficiency

Search GEO for disease gene expression data for C5 Deficiency.

Pathways for C5 Deficiency

GO Terms for C5 Deficiency

Cellular components related to C5 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.26 C1R C5 C9 CFP
2 membrane attack complex GO:0005579 8.62 C5 C9

Biological processes related to C5 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.58 C1R C9 CFP
2 innate immune response GO:0045087 9.56 C1R C5 C9 CFP
3 complement activation, classical pathway GO:0006958 9.5 C1R C5 C9
4 cytolysis GO:0019835 9.37 C5 C9
5 complement activation GO:0006956 9.33 C1R C5 CFP
6 regulation of complement activation GO:0030449 9.26 C1R C5 C9 CFP
7 complement activation, alternative pathway GO:0006957 8.8 C5 C9 CFP

Sources for C5 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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