MCID: C2D001
MIFTS: 46

C2 Deficiency

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for C2 Deficiency

MalaCards integrated aliases for C2 Deficiency:

Name: C2 Deficiency 54 25 71 13
Complement Component 2 Deficiency 12 50 25 71 29 14 69
Complement 2 Deficiency 25 69
C2d 25 71
Complement Component-2 13

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


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 systemic lupus erythematosus and purpura. 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 Cetuximab and Irinotecan have been mentioned in the context of this disorder. Affiliated tissues include lung, skin 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 : 71 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 via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
henoch-schonlein purpura

Immunology:
autoimmune disease
systemic lupus erythematosus
sjogren syndrome
c2 deficiency

Muscle Soft Tissue:
polymyositis


Clinical features from OMIM:

217000

Human phenotypes related to C2 Deficiency:

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

Drugs & Therapeutics for C2 Deficiency

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

(show top 50) (show all 114)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
2
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
3
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
4
Simvastatin Approved Phase 2 79902-63-9 54454
5
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
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
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
9
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
10
Goserelin Approved Phase 2 65807-02-5 47725 5311128
11
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
12
Palbociclib Approved Phase 2 571190-30-2 11431660 5005498 5330286
13
Adenosine Approved, Investigational Phase 2 58-61-7 60961
14
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
15
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
16
Hydroxychloroquine Approved Phase 2 118-42-3 3652
17
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
19
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
20
Nicotinamide Approved, Nutraceutical Phase 2 98-92-0 936
21
Camptothecin Experimental Phase 2 7689-03-4
22
Entinostat Investigational Phase 2,Phase 1 209783-80-2
23
Docetaxel Approved May 1996, Investigational Phase 2 114977-28-5 148124 9877265
24 Anticholesteremic Agents Phase 2
25 Antimetabolites Phase 2
26 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
27 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
28 Hypolipidemic Agents Phase 2
29 Lipid Regulating Agents Phase 2
30 topoisomerase I inhibitors Phase 2
31 Topoisomerase Inhibitors Phase 2,Phase 1
32 Protein Kinase Inhibitors Phase 1, Phase 2
33 Aromatase Inhibitors Phase 2,Phase 1
34 Estrogen Antagonists Phase 2,Phase 1
35 Estrogens Phase 2,Phase 1
36 Hormone Antagonists Phase 2,Phase 1
37 Hormones Phase 2,Phase 1
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
39 Steroid Synthesis Inhibitors Phase 2,Phase 1
40 Anti-Infective Agents Phase 2,Phase 1
41 Antiparasitic Agents Phase 2,Phase 1
42 Histone Deacetylase Inhibitors Phase 2,Phase 1
43 Analgesics Phase 1, Phase 2
44 Analgesics, Non-Narcotic Phase 1, Phase 2
45 Antibodies Phase 1, Phase 2
46 Antibodies, Monoclonal Phase 1, Phase 2
47 Antirheumatic Agents Phase 1, Phase 2
48 Immunoglobulins Phase 1, Phase 2
49 Interleukin-2 Phase 1, Phase 2
50 Peripheral Nervous System Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 19)

id Name Status NCT ID Phase Drugs
1 Simvastatin + Cetuximab/Irinotecan in K-ras Mutant Colorectal Cancer (CRC) Completed NCT01281761 Phase 2 cetuximab/irinotecan/simvastatin
2 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 L19-IL2 - Ph I;L19-IL2 at RD - Ph II;Rituximab
3 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 M3814;M3814 matching placebo;Cisplatin;Etoposide;M3814;Cisplatin;Etoposide
4 Alternative Dosing Schedule of Palbociclib in Metastatic Hormone Receptor Positive Breast Cancer Recruiting NCT03007979 Phase 2 Palbociclib;Letrozole;Fulvestrant;Goserelin
5 AZD1775 Plus Chemotherapy in Patients With Platinum-Resistant Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT02272790 Phase 2 AZD1775 + carboplatin;AZD1775 + paclitaxel
6 Docetaxel With or Without AZD6244 in Melanoma Active, not recruiting NCT01256359 Phase 2 Docetaxel and AZD6244;Docetaxel and placebo
7 Sorafenib Induced Autophagy Using Hydroxychloroquine in Hepatocellular Cancer Not yet recruiting NCT03037437 Phase 2 Sorafenib (SOR);Hydroxychloroquine (HCQ)
8 Phase 2 Study of Fulvestrant With and Without Entinostat in Postmenopausal Women With ER+ Advanced Breast Cancer Withdrawn NCT02115594 Phase 2 Fulvestrant;Entinostat;Placebo
9 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
10 Study to Assess Food Effect on Pharmacokinetics of Entinostat in Subjects With Breast Cancer or Non-Small Cell Lung Cancer Completed NCT01594398 Phase 1 entinostat;entinostat;Erlotinib;Erlotinib;Exemestane;Exemestane
11 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
12 Relative Bioavailability Trial of Oral Dispersible Praziquantel Tablets in Healthy Volunteers Completed NCT02325713 Phase 1 Oral dispersible tablet of praziquantel (ODT-PZQ);Cysticide;ODT-PZQ;ODT-PZQ;ODT-PZQ;Cysticide
13 AZD8186 First Time In Patient Ascending Dose Study Recruiting NCT01884285 Phase 1 Part A: AZD8186 monotherapy;Part B: AZD8186 monotherapy;Part C1: Abiraterone acetate combination with AZD8186;Part D1: AZD2014 combination with AZD8186;Part D2 AZD2014 combination with AZD8186;Part C2: Abiraterone acetate combination with AZD8186
14 Obinutuzumab, High Dose Methylprednisolone (HDMP), and Lenalidomide for the Treatment of Patients With Richter's Syndrome Not yet recruiting NCT03113695 Phase 1 Obinutuzumab, lenalidomide, HDMP
15 Leptin in Human Energy and Neuroendocrine Homeostasis Unknown status NCT00265980 Placebo;Leptin;placebo;Tri-iodothyronine
16 Biomarkers of Meats and Potatoes Intake. Completed NCT03305718
17 Minimal Residual Disease in Peripheral T-cell Lymphoma Recruiting NCT03297697
18 Efficacy of Vitamin A Fortified Rice in Lactating Thai Women Recruiting NCT03056625
19 Gene Therapy and Combination Chemotherapy in Treating Patients With AIDS-Related Non-Hodgkin Lymphoma Recruiting NCT02337985 Prednisone;Etoposide;Doxorubicin Hydrochloride;Vincristine Sulfate;Cyclophosphamide

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
Lung, Skin, Brain, Spinal Cord, Breast, Liver, T Cells

Publications for C2 Deficiency

Articles related to C2 Deficiency:

(show all 30)
id Title Authors Year
1
Hereditary Heterozygous C2 Deficiency: Variable Clinical and Serological Manifestations Among Three Sisters. ( 27502238 )
2017
2
Niemann-Pick type C2 deficiency impairs autophagy-lysosomal activity, mitochondrial function, and TLR signaling in adipocytes. ( 27402802 )
2016
3
Supraglottitis due to group B streptococcus in an adult with IgG4 and C2 deficiency: a case report and review of the literature. ( 25124395 )
2015
4
Niemann-pick type C2 deficiency in human fibroblasts confers robust and selective activation of prostaglandin E2 biosynthesis. ( 23814065 )
2013
5
Overcoming C2 deficiency. ( 22863655 )
2012
6
Vaccination against encapsulated bacteria in hereditary C2 deficiency results in antibody response and opsonization due to antibody-dependent complement activation. ( 22842196 )
2012
7
Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab. ( 20890976 )
2011
8
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
9
Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency. ( 20417301 )
2010
10
C2 deficiency primary meningococcal arthritis of the elbow by Neisseria meningitidis serogroup Y in a 12-year old girl. ( 17653506 )
2007
11
Rheumatological manifestations, organ damage and autoimmunity in hereditary C2 deficiency. ( 17478473 )
2007
12
Homozygosity for the IgG2 subclass allotype G2M(n) protects against severe infection in hereditary C2 deficiency. ( 16785571 )
2006
13
Anti-tumor necrosis factor therapy is tolerated in an individual with homozygous complement C2 deficiency. ( 16357744 )
2005
14
Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease. ( 15643297 )
2005
15
Necrotic facial papules in an adolescent: C2 deficiency with eventual development of lupus erythematosus. ( 12869153 )
2003
16
Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency. ( 12959222 )
2003
17
Impaired IgG responses in a child with homozygous C2 deficiency and recurrent pneumococcal septicaemia. ( 11227345 )
2001
18
Low concentrations of immunoglobulin G antibodies to Salmonella serogroup C in C2 deficiency: suggestion of a mannan-binding lectin pathway-dependent mechanism. ( 10607303 )
1999
19
A novel type II complement C2 deficiency allele in an African- American family. ( 9670930 )
1998
20
HLA-Cw alleles associated with HLA extended haplotypes and C2 deficiency. ( 9802610 )
1998
21
C2 deficiency in blood donors and lupus patients: prevalence, clinical characteristics and HLA-associations in the Brazilian population. ( 9229366 )
1997
22
Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. ( 8621452 )
1996
23
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
24
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. ( 8420996 )
1993
25
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. ( 1577763 )
1992
26
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
27
Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency. ( 3467658 )
1987
28
HLA genotypes in a family with a case of homozygous C2 deficiency and discoid lupus erythematosus. ( 2431580 )
1986
29
Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. ( 6902670 )
1980
30
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:

71
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 immune system process GO:0002376 9.43 C4A MBL2
6 positive regulation of apoptotic cell clearance GO:2000427 9.32 C2 C4A
7 regulation of complement activation GO:0030449 9.26 C2 C4A CFP IGHG2
8 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
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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