C2D
MCID: C2D001
MIFTS: 45

C2 Deficiency (C2D) malady

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for C2 Deficiency

Aliases & Descriptions for C2 Deficiency:

Name: C2 Deficiency 54 25 66 13
Complement Component 2 Deficiency 12 50 25 66 29 14 69
Complement 2 Deficiency 25 69
C2d 25 66
Complement Component-2 13

Characteristics:

HPO:

32
c2 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 217000
Disease Ontology 12 DOID:0060295
ICD10 33 D84.1
MedGen 40 C3150275
MeSH 42 D007105

Summaries for C2 Deficiency

Genetics Home Reference : 25 Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement component 2 deficiency have a significantly increased risk of recurrent bacterial infections, specifically of the lungs (pneumonia), the membrane covering the brain and spinal cord (meningitis), and the blood (sepsis), which may be life-threatening. These infections most commonly occur in infancy and childhood and become less frequent in adolescence and adulthood.

MalaCards based summary : C2 Deficiency, also known as complement component 2 deficiency, is related to complement component c2 deficiency and hyperlipoproteinemia, type ib, and has symptoms including purpura and systemic lupus erythematosus. An important gene associated with C2 Deficiency is C2 (Complement C2), and among its related pathways/superpathways are Innate Immune System and Complement and coagulation cascades. The drugs rituximab and Cetuximab have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and brain.

NIH Rare Diseases : 50 complement component 2 deficiency (c2d) is a genetic condition that affects the immune system. signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. infections can be very serious and are common in early life. they become less frequent during the teen and adult years. the most frequent autoimmune conditions associated with c2d are lupus (10-20%) and vasculitis. c2d is caused by mutations in the c2 gene and is inherited in an autosomal recessive fashion. last updated: 9/24/2015

UniProtKB/Swiss-Prot : 66 Complement component 2 deficiency: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections.

Description from OMIM: 217000

Related Diseases for C2 Deficiency

Graphical network of the top 20 diseases related to C2 Deficiency:



Diseases related to C2 Deficiency

Symptoms & Phenotypes for C2 Deficiency

Symptoms by clinical synopsis from OMIM:

217000

Clinical features from OMIM:

217000

Human phenotypes related to C2 Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 purpura 32 HP:0000979
2 systemic lupus erythematosus 32 HP:0002725

Drugs & Therapeutics for C2 Deficiency

Drugs for C2 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 145)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
2
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
3
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
4
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 6857599, 9887054 43805
5
Simvastatin Approved Phase 2 79902-63-9 54454
6
Cisplatin Approved Phase 1, Phase 2 15663-27-1 84093 441203 2767
7
Etoposide Approved Phase 1, Phase 2 33419-42-0 36462
8
Adenosine Approved, Investigational Phase 2 58-61-7 60961
9
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
10
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
11
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
12
Dabrafenib Approved Phase 2 44462760 44516822
13
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
14
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
15
nivolumab Approved Phase 2 946414-94-4
16
Osimertinib Approved Phase 2 1421373-65-0 71496458
17
Palbociclib Approved Phase 2 571190-30-2 11431660 5005498 5330286
18
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
19
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
20
Trametinib Approved Phase 2 871700-17-3 11707110
21
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
22
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
23
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
24
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
25
Vincristine Approved, Investigational Phase 1, Phase 2 2068-78-2, 57-22-7 5978
26
Cortisone acetate Approved Phase 1, Phase 2 1950-04-4, 50-04-4 5745
27
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
28
Hydroxychloroquine Approved Phase 2 118-42-3 3652
29
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
30
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757 53477783
31
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
32
Goserelin Approved Phase 2 65807-02-5 47725 5311128
33
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
35
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
36
Nicotinamide Approved, Nutraceutical Phase 2 98-92-0 936
37
Camptothecin Experimental Phase 2 7689-03-4
38
Doxil Approved June 1999 Phase 1, Phase 2 31703
39
Docetaxel Approved May 1996, Investigational Phase 2 114977-28-5 148124 9877265
40 Antibodies Phase 1, Phase 2
41 Immunoglobulins Phase 1, Phase 2
42 Vaccines Phase 2,Phase 1
43 Anticholesteremic Agents Phase 2
44 Antimetabolites Phase 2
45 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
46 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
47 Hypolipidemic Agents Phase 2
48 Lipid Regulating Agents Phase 2
49 topoisomerase I inhibitors Phase 2
50 Topoisomerase Inhibitors Phase 2,Phase 1

Interventional clinical trials:

(show all 38)
id Name Status NCT ID Phase
1 Pediatric Pulmonary and Cardiovascular Complications of Vertically Transmitted HIV Infection (P2C2) Completed NCT00005274 Phase 3
2 Simvastatin + Cetuximab/Irinotecan in K-ras Mutant Colorectal Cancer (CRC) Completed NCT01281761 Phase 2
3 Phase I/II, Open-Label Trial of Three Monoclonal Antibodies Completed NCT00219986 Phase 1, Phase 2
4 Immunogenicity and Safety of 2 Schedules of ALVAC-HIV vCP1452 in Chronically HIV-Infected Patients Completed NCT00219362 Phase 2
5 A Phase IIA Trial to Evaluate the Safety and Immunogenicity of a DNA HIV-1 Vaccine Followed by an MVA HIV-1 Vaccine in HIV-uninfected Volunteers Completed NCT01371175 Phase 2
6 A Phase I/II Study of the Tumor-targeting Human L19-IL2 Monoclonal Antibody-cytokine Fusion Protein in Combination With Rituximab in Relapsed or Refractory Diffuse Large B-cell Lymphoma (DLBCL) Recruiting NCT02957019 Phase 1, Phase 2
7 Phase Ib/II Study of M3814 With Etoposide and Cisplatin in Small Cell Lung Cancer (SCLC) Extensive Disease (ED) Recruiting NCT03116971 Phase 1, Phase 2
8 AZD1775 Plus Chemotherapy in Patients With Platinum-Resistant Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT02272790 Phase 2
9 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma Recruiting NCT02465060 Phase 2
10 Docetaxel With or Without AZD6244 in Melanoma Active, not recruiting NCT01256359 Phase 2
11 Vorinostat and Combination Chemotherapy With Rituximab in Treating Patients With HIV-Related Diffuse Large B-Cell Non-Hodgkin Lymphoma or Other Aggressive B-Cell Lymphomas Active, not recruiting NCT01193842 Phase 1, Phase 2
12 Sorafenib Induced Autophagy Using Hydroxychloroquine in Hepatocellular Cancer Not yet recruiting NCT03037437 Phase 2
13 Alternative Dosing Schedule of Palbociclib in Metastatic Hormone Receptor Positive Breast Cancer Not yet recruiting NCT03007979 Phase 2
14 Phase 2 Study of Fulvestrant With and Without Entinostat in Postmenopausal Women With ER+ Advanced Breast Cancer Withdrawn NCT02115594 Phase 2
15 Safety of and Immune Response to a DNA HIV Vaccine Boosted With a Modified Vaccinia HIV Vaccine and Protein HIV Vaccine in Healthy Adults Unknown status NCT01418235 Phase 1
16 Study to Assess Food Effect on Pharmacokinetics of Entinostat in Subjects With Breast Cancer or Non-Small Cell Lung Cancer Completed NCT01594398 Phase 1
17 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1
18 Relative Bioavailability Trial of Oral Dispersible Praziquantel Tablets in Healthy Volunteers Completed NCT02325713 Phase 1
19 Safety of and Immune Response to Two HIV Vaccines: SAAVI DNA-C2 Boosted With SAAVIMVA-C, in HIV-Negative Adults Completed NCT00574600 Phase 1
20 Evaluating the Safety and Immune Response to an HIV Vaccine Boost Following the Administration of Two HIV Vaccines, in HIV-Uninfected, Healthy Adults (Study Extension to HVTN 073/SAAVI 102) Completed NCT01423825 Phase 1
21 Active Immunization of Asymptomatic, HIV-Infected Individuals With Recombinant GP160 HIV-1 Antigen: A Phase I/II Study of Immunogenicity and Toxicity Completed NCT00000977 Phase 1
22 Galunisertib (LY2157299) Plus Stereotactic Body Radiotherapy (SBRT) in HCC Recruiting NCT03081377 Phase 1
23 AZD8186 First Time In Patient Ascending Dose Study Recruiting NCT01884285 Phase 1
24 Obinutuzumab, High Dose Methylprednisolone (HDMP), and Lenalidomide for the Treatment of Patients With Richter's Syndrome Not yet recruiting NCT03113695 Phase 1
25 Leptin in Human Energy and Neuroendocrine Homeostasis Unknown status NCT00265980
26 Observation in Patients With Diffuse Large B-Cell Non-Hodgkin's Lymphoma Treated on Clinical Trial CAN-NCIC-LY9 Unknown status NCT00400907
27 Enhancement of Connect to Protect® (C2P) Completed NCT01492816
28 Connect to Protect (C2P): Building a Community-Based Infrastructure for HIV Prevention Completed NCT01752504
29 C2P (With Venues): Connect to Protect® Partnerships For Youth Prevention Interventions Completed NCT00271908
30 C2P Mobilization Intervention (Pilot) Completed NCT00393575
31 An Oral Dose-Ranging Finding Study in Patients With HIV Disease, CDC Classification Groups IIB, III, and IV-C2 Completed NCT00002023
32 C2P - Phase III: MPowerment and Community Promise Completed NCT00381784
33 Connect to Protect Partnerships for Youth Prevention Interventions: Phase II Completed NCT00103896
34 Long-term Effects of Highly Active Anti-Retroviral Therapy on HIV-Infected Children Completed NCT00260806
35 Effects of Highly Active Anti-Retroviral Therapy on Cardiovascular Health in Infants of HIV-Infected Mothers Completed NCT00253682
36 Efficacy of Vitamin A Fortified Rice in Lactating Thai Women Recruiting NCT03056625
37 Gene Therapy and Combination Chemotherapy in Treating Patients With AIDS-Related Non-Hodgkin Lymphoma Recruiting NCT02337985
38 The Swedish BioFINDER 2 Study Recruiting NCT03174938

Search NIH Clinical Center for C2 Deficiency

Genetic Tests for C2 Deficiency

Genetic tests related to C2 Deficiency:

id Genetic test Affiliating Genes
1 Complement Component 2 Deficiency 29

Anatomical Context for C2 Deficiency

MalaCards organs/tissues related to C2 Deficiency:

39
Skin, Lung, Brain, Spinal Cord, Adipocyte

Publications for C2 Deficiency

Articles related to C2 Deficiency:

(show all 29)
id Title Authors Year
1
Niemann-Pick type C2 deficiency impairs autophagy-lysosomal activity, mitochondrial function, and TLR signaling in adipocytes. ( 27402802 )
2016
2
Supraglottitis due to group B streptococcus in an adult with IgG4 and C2 deficiency: a case report and review of the literature. ( 25124395 )
2015
3
Niemann-pick type C2 deficiency in human fibroblasts confers robust and selective activation of prostaglandin E2 biosynthesis. ( 23814065 )
2013
4
Vaccination against encapsulated bacteria in hereditary C2 deficiency results in antibody response and opsonization due to antibody-dependent complement activation. ( 22842196 )
2012
5
Overcoming C2 deficiency. ( 22863655 )
2012
6
Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab. ( 20890976 )
2011
7
Recombinant human complement component C2 produced in a human cell line restores the classical complement pathway activity in-vitro: an alternative treatment for C2 deficiency diseases. ( 20727163 )
2010
8
Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency. ( 20417301 )
2010
9
Rheumatological manifestations, organ damage and autoimmunity in hereditary C2 deficiency. ( 17478473 )
2007
10
C2 deficiency primary meningococcal arthritis of the elbow by Neisseria meningitidis serogroup Y in a 12-year old girl. ( 17653506 )
2007
11
Homozygosity for the IgG2 subclass allotype G2M(n) protects against severe infection in hereditary C2 deficiency. ( 16785571 )
2006
12
Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease. ( 15643297 )
2005
13
Anti-tumor necrosis factor therapy is tolerated in an individual with homozygous complement C2 deficiency. ( 16357744 )
2005
14
Necrotic facial papules in an adolescent: C2 deficiency with eventual development of lupus erythematosus. ( 12869153 )
2003
15
Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency. ( 12959222 )
2003
16
Impaired IgG responses in a child with homozygous C2 deficiency and recurrent pneumococcal septicaemia. ( 11227345 )
2001
17
Low concentrations of immunoglobulin G antibodies to Salmonella serogroup C in C2 deficiency: suggestion of a mannan-binding lectin pathway-dependent mechanism. ( 10607303 )
1999
18
A novel type II complement C2 deficiency allele in an African- American family. ( 9670930 )
1998
19
HLA-Cw alleles associated with HLA extended haplotypes and C2 deficiency. ( 9802610 )
1998
20
C2 deficiency in blood donors and lupus patients: prevalence, clinical characteristics and HLA-associations in the Brazilian population. ( 9229366 )
1997
21
Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. ( 8621452 )
1996
22
Serum concentrations of C4 isotypes and factor B in type I C2 deficiency suggest haplotype-dependent quantitative expression of MHC class III complement genes. ( 7576717 )
1995
23
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. ( 8420996 )
1993
24
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. ( 1577763 )
1992
25
Dapsone is an effective therapy for the skin lesions of subacute cutaneous lupus erythematosus and urticarial vasculitis in a patient with C2 deficiency. ( 2290166 )
1990
26
Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency. ( 3467658 )
1987
27
HLA genotypes in a family with a case of homozygous C2 deficiency and discoid lupus erythematosus. ( 2431580 )
1986
28
Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. ( 6902670 )
1980
29
Hereditary complement (C2) deficiency with discoid lupus erythematosus and idiopathic atrophoderma. ( 315933 )
1979

Variations for C2 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for C2 Deficiency:

66
id Symbol AA change Variation ID SNP ID
1 C2 p.Cys131Tyr VAR_008544 rs760744400
2 C2 p.Ser209Phe VAR_008545 rs28934590
3 C2 p.Gly464Arg VAR_008546 rs151340617

ClinVar genetic disease variations for C2 Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh37 Chromosome 6, 31914180: 31914180
2 C2 NM_001282459.1(C2): c.841_868del28 (p.Val281Profs) deletion Likely pathogenic rs9332736 GRCh37 Chromosome 6, 31902068: 31902095

Expression for C2 Deficiency

Search GEO for disease gene expression data for C2 Deficiency.

Pathways for C2 Deficiency

GO Terms for C2 Deficiency

Cellular components related to C2 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 C2 C4A CFP IGHG2 MBL2 NPC2
2 extracellular space GO:0005615 9.1 C2 C4A CFP IGHG2 MBL2 NPC2

Biological processes related to C2 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.71 C2 C4A IGHG2 MBL2
2 innate immune response GO:0045087 9.65 C2 C4A CFP IGHG2 MBL2
3 defense response to bacterium GO:0042742 9.54 CFP IGHG2 MBL2
4 complement activation, classical pathway GO:0006958 9.46 C2 C4A IGHG2 MBL2
5 positive regulation of apoptotic cell clearance GO:2000427 9.32 C2 C4A
6 regulation of complement activation GO:0030449 9.26 C2 C4A CFP IGHG2
7 complement activation GO:0006956 9.02 C2 C4A CFP IGHG2 MBL2

Molecular functions related to C2 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.92 C2 C4A IGHG2 MBL2

Sources for C2 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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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