MCID: CMP007
MIFTS: 42

Complement Component 5 Deficiency

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

Aliases & Classifications for Complement Component 5 Deficiency

MalaCards integrated aliases for Complement Component 5 Deficiency:

Name: Complement Component 5 Deficiency 57 12 75 15 73
C5 Deficiency 57 12 75 13
C5d 57 75
Erythroderma Desquamativum 59
Complement Component-5 13
Leiner Disease 59

Characteristics:

HPO:

32
complement component 5 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 609536
Disease Ontology 12 DOID:8158
NCIt 50 C9469
Orphanet 59 ORPHA314
ICD10 via Orphanet 34 L21.1
MedGen 42 C0343047
MeSH 44 D007154
UMLS 73 C0343047

Summaries for Complement Component 5 Deficiency

UniProtKB/Swiss-Prot : 75 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 : Complement Component 5 Deficiency, also known as c5 deficiency, is related to leiner disease and erythroderma desquamativa of leiner. 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 b cells, t cells and skin, and related phenotypes are seborrheic dermatitis and failure to thrive

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 leiner disease 11.3
2 erythroderma desquamativa of leiner 11.2
3 seborrheic infantile dermatitis 11.2
4 immunodeficiency due to a late component of complement deficiency 9.9 C5 C9
5 acute poststreptococcal glomerulonephritis 9.7 C5 CFP
6 complement deficiency 9.5 C5 CFP

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

Clinical features from OMIM:

609536

Human phenotypes related to Complement Component 5 Deficiency:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seborrheic dermatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001051
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
4 abnormality of immune system physiology 59 Very frequent (99-80%)
5 intractable diarrhea 32 HP:0002041
6 recurrent infections 32 HP:0002719
7 complement deficiency 32 HP:0004431
8 recurrent meningitis 32 HP:0006946
9 generalized seborrheic dermatitis 32 HP:0007569

Drugs & Therapeutics for Complement Component 5 Deficiency

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

(show all 47)
# 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
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
5
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
6
Gemcitabine Approved Phase 2 95058-81-4 60750
7
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
8
rituximab Approved Phase 2 174722-31-7 10201696
9 Protein Kinase Inhibitors Phase 2
10 Alkylating Agents Phase 2
11 Antibodies Phase 2,Phase 1
12 Antibodies, Monoclonal Phase 2,Phase 1
13 Antineoplastic Agents, Alkylating Phase 2
14 Bendamustine Hydrochloride Phase 2
15 Complement System Proteins Phase 2
16 Immunoglobulin G Phase 2
17 Immunoglobulins Phase 2,Phase 1
18 Nitrogen Mustard Compounds Phase 2
19
Everolimus Approved Phase 1 159351-69-6 6442177
20
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
21
Coal tar Approved Phase 1 8007-45-2
22
Bevacizumab Approved, Investigational Phase 1 216974-75-3
23
nivolumab Approved Phase 1 946414-94-4
24
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 5310940 9887054 43805 6857599
25
Trifluridine Approved, Investigational Phase 1 70-00-8 6256
26
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
27 Angiogenesis Inhibitors Phase 1
28 Angiogenesis Modulating Agents Phase 1
29 Anti-Infective Agents Phase 1
30 Antimetabolites Phase 1
31 Antiviral Agents Phase 1
32 Pharmaceutical Solutions Phase 1
33 Antibodies, Blocking Phase 1
34 Interferon Inducers Phase 1
35 interferons Phase 1
36 Poly I-C Phase 1
37 Poly ICLC Phase 1
38 Vaccines Phase 1
39 Retinol palmitate Phase 1
40 tyrosine Nutraceutical Phase 1
41 retinol Nutraceutical Phase 1
42 Complement C3 Not Applicable
43 Antacids Not Applicable
44 Anticoagulants Not Applicable
45 Anti-Ulcer Agents Not Applicable
46 fucoidan Not Applicable
47 Gastrointestinal 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 Study of ARQ 092 in Patients With Overgrowth Diseases and/or Vascular Anomalies Recruiting NCT03094832 Phase 1, Phase 2 ARQ 092
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 Study of S 95005 in Combination With Oxaliplatin in Metastatic Colorectal Cancer Recruiting NCT02848443 Phase 1 Trifluridine/tipiracil hydrochloride (S 95005);Oxaliplatin;Bevacizumab;Nivolumab
10 Neoantigen-based Personalized Vaccine Combined With Immune Checkpoint Blockade Therapy in Patients With Newly Diagnosed, Unmethylated Glioblastoma Not yet recruiting NCT03422094 Phase 1
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 Not Applicable
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:

41
B Cells, T Cells, Skin, Breast, Liver

Publications for Complement Component 5 Deficiency

Articles related to Complement Component 5 Deficiency:

(show all 22)
# 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
[Hereditary C5 deficiency and recurrent Neisseria meningitidis meningitis]. ( 3067301 )
1988
18
C5 deficiency in a white family. ( 4015289 )
1985
19
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
20
Linkage for a locus of human complement C5 deficiency to the complement C6 structural locus. ( 21302062 )
1978
21
C5 deficiency in one atopic family. ( 871347 )
1977
22
Hereditary C5 deficiency in man: genetic linkage studies. ( 886187 )
1977

Variations for Complement Component 5 Deficiency

ClinVar genetic disease variations for Complement Component 5 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 GRCh37 Chromosome 9, 123812470: 123812470
2 C5 NM_001735.2(C5): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs121909587 GRCh38 Chromosome 9, 121050192: 121050192
3 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 GRCh37 Chromosome 9, 123725027: 123725027
4 C5 NM_001735.2(C5): c.4426C> T (p.Arg1476Ter) single nucleotide variant Pathogenic rs121909588 GRCh38 Chromosome 9, 120962749: 120962749
5 C5 NM_001735.2(C5): c.4872_4873delCCinsG (p.Leu1625Serfs) indel Pathogenic rs387906554 GRCh37 Chromosome 9, 123716036: 123716037
6 C5 NM_001735.2(C5): c.4872_4873delCCinsG (p.Leu1625Serfs) indel Pathogenic rs387906554 GRCh38 Chromosome 9, 120953758: 120953759
7 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 GRCh37 Chromosome 9, 123785683: 123785683
8 C5 NM_001735.2(C5): c.1115A> G (p.Lys372Arg) single nucleotide variant Pathogenic rs587776846 GRCh38 Chromosome 9, 121023405: 121023405

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 extracellular space GO:0005615 9.26 C1R C5 C9 CFP
2 blood microparticle GO:0072562 9.16 C1R C9
3 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 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 Complement Component 5 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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