C5D
MCID: CMP007
MIFTS: 45

Complement Component 5 Deficiency (C5D)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Complement Component 5 Deficiency

MalaCards integrated aliases for Complement Component 5 Deficiency:

Name: Complement Component 5 Deficiency 58 12 54 76 15 74
C5 Deficiency 58 12 76 13
C5d 58 76
Erythroderma Desquamativum 60
Complement Component-5 13
Leiner Disease 60

Characteristics:

HPO:

33
complement component 5 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:8158
OMIM 58 609536
MeSH 45 D007154
NCIt 51 C9469
ICD10 via Orphanet 35 L21.1
Orphanet 60 ORPHA314
MedGen 43 C0343047
UMLS 74 C0343047

Summaries for Complement Component 5 Deficiency

Disease Ontology : 12 A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has material basis in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system.

MalaCards based summary : Complement Component 5 Deficiency, also known as c5 deficiency, is related to seborrheic infantile dermatitis and leiner disease. An important gene associated with Complement Component 5 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 skin, breast and t cells, and related phenotypes are failure to thrive and seborrheic dermatitis

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Complement component 5 is a protein that in humans is encoded by the C5... more...

Description from OMIM: 609536

Related Diseases for Complement Component 5 Deficiency

Diseases related to Complement Component 5 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 seborrheic infantile dermatitis 11.4
2 leiner disease 11.4
3 meningitis 10.2
4 immunodeficiency due to a late component of complement deficiency 10.1 C5 C9
5 complement deficiency 10.0 C3 C5
6 dense deposit disease 10.0 C3 C5
7 malaria 9.9
8 arthritis 9.9
9 meningococcal meningitis 9.9
10 acute pancreatitis 9.9
11 pancreatitis 9.9
12 amyloidosis 9.9
13 meningococcal infection 9.9
14 hemolytic uremic syndrome, atypical 1 9.7 C3 C5
15 complement factor i deficiency 9.7 C3 CR1
16 proliferative glomerulonephritis 9.7 C3 CR1
17 glomerulonephritis 9.7 C3 CR1
18 afibrinogenemia 9.6 C3 CR1
19 hemoglobinuria 9.6 C3 C5 CR1

Graphical network of the top 20 diseases related to Complement Component 5 Deficiency:



Diseases related to Complement Component 5 Deficiency

Symptoms & Phenotypes for Complement Component 5 Deficiency

Human phenotypes related to Complement Component 5 Deficiency:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 seborrheic dermatitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001051
3 diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002014
4 abnormality of immune system physiology 60 Very frequent (99-80%)
5 recurrent infections 33 HP:0002719
6 complement deficiency 33 HP:0004431
7 recurrent meningitis 33 HP:0006946
8 intractable diarrhea 33 HP:0002041
9 generalized seborrheic dermatitis 33 HP:0007569

Clinical features from OMIM:

609536

GenomeRNAi Phenotypes related to Complement Component 5 Deficiency according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.92 C3 C5 CR1 RDH11

Drugs & Therapeutics for Complement Component 5 Deficiency

Drugs for Complement Component 5 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents Phase 4
2 Emollients Phase 4
3
Trametinib Approved Phase 2 871700-17-3 11707110
4
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
5
Gemcitabine Approved Phase 2 95058-81-4 60750
6
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
7
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
8
rituximab Approved Phase 2 174722-31-7 10201696
9
ofatumumab Approved Phase 2 679818-59-8 6918251
10
Durvalumab Approved, Investigational Phase 2 1428935-60-7
11
Tremelimumab Investigational Phase 2 745013-59-6
12 Protein Kinase Inhibitors Phase 2
13 Bendamustine Hydrochloride Phase 2
14 Complement System Proteins Phase 2
15 Alkylating Agents Phase 2
16 Immunologic Factors Phase 2,Phase 1
17 Antibodies Phase 2,Phase 1
18 Immunoglobulin G Phase 2
19 Nitrogen Mustard Compounds Phase 2
20 Antibodies, Monoclonal Phase 2,Phase 1
21 Immunoglobulins Phase 2,Phase 1
22 Antineoplastic Agents, Alkylating Phase 2
23 Complement C3 Phase 2
24 Vaccines Phase 2,Phase 1
25 Antineoplastic Agents, Immunological Phase 2,Phase 1
26
Everolimus Approved Phase 1 159351-69-6 70789204 6442177
27
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 5284616 6436030
28
Coal tar Approved Phase 1 8007-45-2
29
nivolumab Approved Phase 1 946414-94-4
30
Ipilimumab Approved Phase 1 477202-00-9
31
Trifluridine Approved, Investigational Phase 1 70-00-8 6256
32
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 43805 6857599 5310940 9887054
33
Bevacizumab Approved, Investigational Phase 1 216974-75-3
34
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
36 Antibodies, Blocking Phase 1
37 Poly I-C Phase 1
38 Poly ICLC Phase 1
39 interferons Phase 1
40 Interferon Inducers Phase 1
41 Antiviral Agents Phase 1
42 Antimetabolites Phase 1
43 Anti-Infective Agents Phase 1
44 Pharmaceutical Solutions Phase 1
45 Angiogenesis Inhibitors Phase 1
46 Angiogenesis Modulating Agents Phase 1
47 retinol Phase 1
48 Retinol palmitate Phase 1
49 Anticoagulants Not Applicable
50 Anti-Ulcer Agents Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Promiseb Topical Cream for Cradle Cap Completed NCT01214434 Phase 4
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 Safety and Efficacy Study for Solid Tumor Patients Treated With Eltrombopag Completed NCT01147809 Phase 2 Eltrombopag olamine
4 Ofatumumab Plus Bendamustine in Frontline and Relapsed Chronic Lymphocytic Leukaemia (CLL) Completed NCT01520922 Phase 2 Bendamustine
5 Study Of Ispinesib In Subjects With Breast Cancer Completed NCT00089973 Phase 2 Ispinesib
6 PolyImmune {Durvalumab (MEDI4736) and Tremelimumab} & Vaccine Orchestrated Treatment for Patients With Advanced/Metastatic Renal Cell Carcinoma Not yet recruiting NCT03598816 Phase 2 Durvalumab;Tremelimumab
7 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
8 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
9 Neoantigen-based Personalized Vaccine Combined With Immune Checkpoint Blockade Therapy in Patients With Newly Diagnosed, Unmethylated Glioblastoma Recruiting NCT03422094 Phase 1
10 Study of S 95005 in Combination With Oxaliplatin in Metastatic Colorectal Cancer Active, not recruiting NCT02848443 Phase 1 Trifluridine/tipiracil hydrochloride (S 95005);Oxaliplatin;Bevacizumab;Nivolumab
11 Clinical Study of Relapsed/Refractory Chronic Lymphocytic Leukemia (CLL) Suspended NCT02117336 Phase 1 P1446A-05
12 Minimal Residual Disease in Peripheral T-cell Lymphoma Recruiting NCT03297697
13 To Evaluate the QoL Improvement of Oral Oligo Fucoidan in Subjects Receiving Platinum-based Chemotherapy With NSCLC Not yet recruiting NCT03130829 Not Applicable

Search NIH Clinical Center for Complement Component 5 Deficiency

Genetic Tests for Complement Component 5 Deficiency

Anatomical Context for Complement Component 5 Deficiency

MalaCards organs/tissues related to Complement Component 5 Deficiency:

42
Skin, Breast, T Cells, B Cells, Liver

Publications for Complement Component 5 Deficiency

Articles related to Complement Component 5 Deficiency:

(show all 25)
# Title Authors Year
1
Impaired insulin signaling in the B10.D2-Hc0 H2d H2-T18c/oSnJ mouse model of complement factor 5 (C5) deficiency. ( 31084499 )
2019
2
Novel Mutations Causing C5 Deficiency in Three North-African Families. ( 27026170 )
2016
3
Chronic gonococcal arthritis with C5 deficiency presenting with brief flare-ups: case study and literature review. ( 24777471 )
2014
4
Complement C3 and C5 deficiency affects fracture healing. ( 24260573 )
2013
5
Complement factor C5 deficiency significantly delays the progression of biliary fibrosis in bile duct-ligated mice. ( 22277671 )
2012
6
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
7
Molecular characterization of three new mutations causing C5 deficiency in two non-related families. ( 19414197 )
2009
8
C5 deficiency and C5a or C5aR blockade protects against cerebral malaria. ( 18426986 )
2008
9
Linking C5 deficiency to an exonic splicing enhancer mutation. ( 15778377 )
2005
10
Complement component C5 deficiency reduces edema formation in murine ligation-induced acute pancreatitis. ( 9070179 )
1997
11
C5 deficiency in a patient with primary Sjögren's syndrome. ( 7562780 )
1995
12
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
13
Phenotypically similar clones of serogroup B Neisseria meningitidis causing recurrent meningitis in a patient with total C5 deficiency. ( 7806892 )
1994
14
Recurrent meningococcal infections in a patient with congenital C5 deficiency. ( 8388602 )
1993
15
C5 deficiency in A/J mice is not associated with resistance to the development of secondary amyloidosis. ( 1477093 )
1992
16
Chronic meningococcal meningitis. An association with C5 deficiency. ( 3132125 )
1988
17
C5 deficiency and meningitis in a Swiss family. ( 3341877 )
1988
18
[Hereditary C5 deficiency and recurrent Neisseria meningitidis meningitis]. ( 3067301 )
1988
19
C5 deficiency in a white family. ( 4015289 )
1985
20
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
21
Linkage for a locus of human complement C5 deficiency to the complement C6 structural locus. ( 21302062 )
1978
22
Hereditary C5 deficiency in man. III. Studies of hemostasis and platelet responses to zymosan. ( 830743 )
1977
23
C5 deficiency in one atopic family. ( 871347 )
1977
24
Hereditary C5 deficiency in man: genetic linkage studies. ( 886187 )
1977
25
Leiner's disease and C5 deficiency. ( 4404926 )
1972

Variations for Complement Component 5 Deficiency

ClinVar genetic disease variations for Complement Component 5 Deficiency:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 GRCh38 Chromosome 9, 121023405: 121023405
2 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 GRCh37 Chromosome 9, 123812470: 123812470
3 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 GRCh38 Chromosome 9, 121050192: 121050192
4 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 GRCh37 Chromosome 9, 123725027: 123725027
5 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 GRCh38 Chromosome 9, 120962749: 120962749
6 C5 NM_001735.2(C5): c.4872_4873delCCinsG (p.Leu1625Serfs) indel Pathogenic rs387906554 GRCh37 Chromosome 9, 123716036: 123716037
7 C5 NM_001735.2(C5): c.4872_4873delCCinsG (p.Leu1625Serfs) indel Pathogenic rs387906554 GRCh38 Chromosome 9, 120953758: 120953759
8 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 GRCh37 Chromosome 9, 123785683: 123785683
9 C5 NM_001735.2(C5): c.1711C> G (p.Leu571Val) single nucleotide variant Uncertain significance rs147226792 GRCh37 Chromosome 9, 123779926: 123779926
10 C5 NM_001735.2(C5): c.1711C> G (p.Leu571Val) single nucleotide variant Uncertain significance rs147226792 GRCh38 Chromosome 9, 121017648: 121017648
11 C5 NM_001735.2(C5): c.3413G> A (p.Arg1138Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 123744195: 123744195
12 C5 NM_001735.2(C5): c.3413G> A (p.Arg1138Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 120981917: 120981917

Expression for Complement Component 5 Deficiency

Search GEO for disease gene expression data for Complement Component 5 Deficiency.

Pathways for Complement Component 5 Deficiency

GO Terms for Complement Component 5 Deficiency

Cellular components related to Complement Component 5 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.96 C3 C9
2 membrane attack complex GO:0005579 8.62 C5 C9

Biological processes related to Complement Component 5 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.62 C3 C5 C9 CR1
2 innate immune response GO:0045087 9.56 C3 C5 C9 CR1
3 positive regulation of angiogenesis GO:0045766 9.48 C3 C5
4 negative regulation of endopeptidase activity GO:0010951 9.46 C3 C5
5 complement activation, classical pathway GO:0006958 9.46 C3 C5 C9 CR1
6 complement activation GO:0006956 9.43 C3 C5
7 positive regulation of vascular endothelial growth factor production GO:0010575 9.4 C3 C5
8 cytolysis GO:0019835 9.37 C5 C9
9 regulation of complement activation GO:0030449 9.26 C3 C5 C9 CR1
10 complement activation, alternative pathway GO:0006957 8.8 C3 C5 C9

Molecular functions related to Complement Component 5 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase inhibitor activity GO:0004866 8.62 C3 C5

Sources for Complement Component 5 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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