C5D
MCID: CMP007
MIFTS: 37

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 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 seborrheic infantile dermatitis. 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 Emollients and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are failure to thrive and seborrheic dermatitis

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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 leiner disease 11.5
2 seborrheic infantile dermatitis 11.3
3 erythroderma desquamativa of leiner 11.3
4 meningitis 10.2
5 immunodeficiency due to a late component of complement deficiency 10.0 C5 C9
6 complement deficiency 9.9 C5 CFP
7 acute poststreptococcal glomerulonephritis 9.9 C5 CFP
8 malaria 9.9
9 arthritis 9.9
10 meningococcal meningitis 9.9
11 acute pancreatitis 9.9
12 pancreatitis 9.9
13 amyloidosis 9.9
14 meningococcal infection 9.9
15 hemolytic uremic syndrome, atypical 1 9.8 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 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 seborrheic dermatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001051
3 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
4 abnormality of immune system physiology 59 Very frequent (99-80%)
5 recurrent infections 32 HP:0002719
6 complement deficiency 32 HP:0004431
7 recurrent meningitis 32 HP:0006946
8 intractable diarrhea 32 HP:0002041
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 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Emollients Phase 4
2 Dermatologic Agents Phase 4
3
Trametinib Approved Phase 2 871700-17-3 11707110
4
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
5
Gemcitabine Approved Phase 2 95058-81-4 60750
6
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
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
Tremelimumab Investigational Phase 2 745013-59-6
11 Antibodies Phase 2,Phase 1
12 Immunoglobulins Phase 2,Phase 1
13 Complement C3 Phase 2
14 Immunologic Factors Phase 2,Phase 1
15 Vaccines Phase 2,Phase 1
16 Antibodies, Monoclonal Phase 2,Phase 1
17 Protein Kinase Inhibitors Phase 2
18 Complement System Proteins Phase 2
19 Immunoglobulin G Phase 2
20 Nitrogen Mustard Compounds Phase 2
21 Bendamustine Hydrochloride Phase 2
22 Alkylating Agents Phase 2
23 Antineoplastic Agents, Alkylating Phase 2
24
Everolimus Approved Phase 1 159351-69-6 6442177
25
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
26
Coal tar Approved Phase 1 8007-45-2
27
Nivolumab Approved Phase 1 946414-94-4
28
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 43805 6857599 5310940 9887054
29
Bevacizumab Approved, Investigational Phase 1 216974-75-3
30
Trifluridine Approved, Investigational Phase 1 70-00-8 6256
31
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
32 Retinol palmitate Phase 1
33 retinol Phase 1
34 tyrosine Phase 1
35 interferons Phase 1
36 Antibodies, Blocking Phase 1
37 Poly I-C Phase 1
38 Poly ICLC Phase 1
39 Interferon Inducers Phase 1
40 Antiviral Agents Phase 1
41 Pharmaceutical Solutions Phase 1
42 Angiogenesis Modulating Agents Phase 1
43 Antimetabolites Phase 1
44 Anti-Infective Agents Phase 1
45 Angiogenesis Inhibitors Phase 1
46 Antacids Not Applicable
47 Anticoagulants Not Applicable
48 Gastrointestinal Agents Not Applicable
49 Anti-Ulcer Agents Not Applicable
50 fucoidan 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 PolyImmune {Durvalumab (MEDI4736) and Tremelimumab} & Vaccine Orchestrated Treatment for Patients With Advanced/Metastatic Renal Cell Carcinoma Not yet recruiting NCT03598816 Phase 2 Durvalumab;Tremelimumab
3 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
4 Safety and Efficacy Study for Solid Tumor Patients Treated With Eltrombopag Completed NCT01147809 Phase 2 Eltrombopag olamine
5 Ofatumumab Plus Bendamustine in Frontline and Relapsed Chronic Lymphocytic Leukaemia (CLL) Completed NCT01520922 Phase 2 Bendamustine
6 Study Of Ispinesib In Subjects With Breast Cancer Completed NCT00089973 Phase 2 Ispinesib
7 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
8 Clinical Study of Relapsed/Refractory Chronic Lymphocytic Leukemia (CLL) Suspended NCT02117336 Phase 1 P1446A-05
9 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
10 Neoantigen-based Personalized Vaccine Combined With Immune Checkpoint Blockade Therapy in Patients With Newly Diagnosed, Unmethylated Glioblastoma Recruiting NCT03422094 Phase 1
11 Study of S 95005 in Combination With Oxaliplatin in Metastatic Colorectal Cancer Recruiting NCT02848443 Phase 1 Trifluridine/tipiracil hydrochloride (S 95005);Oxaliplatin;Bevacizumab;Nivolumab
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:

41
Skin, Liver

Publications for Complement Component 5 Deficiency

Articles related to Complement Component 5 Deficiency:

(show all 24)
# 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 Sjögren'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. III. Studies of hemostasis and platelet responses to zymosan. ( 830743 )
1977
23
Hereditary C5 deficiency in man: genetic linkage studies. ( 886187 )
1977
24
Leiner's disease and C5 deficiency. ( 4404926 )
1972

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

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 region GO:0005576 9.56 C1R C5 C9 CFP
2 extracellular space GO:0005615 9.26 C1R C5 C9 CFP
3 blood microparticle GO:0072562 9.16 C1R C9
4 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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