C3D
MCID: C3D001
MIFTS: 53

C3 Deficiency (C3D) malady

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for C3 Deficiency

Aliases & Descriptions for C3 Deficiency:

Name: C3 Deficiency 54 12 56 29 13 69
Complement Component 3 Deficiency 12 56 66 14
Complement Component 3 Deficiency Autosomal Recessive 66 29
Immune System Diseases 42 69
Complement Component 3 Deficiency, Autosomal Recessive 54
C3 Deficiency, Autosomal Recessive 24
C3 Deficiency Autosomal Recessive 66
Complement Component-3 13
C3d 66

Characteristics:

Orphanet epidemiological data:

56
complement component 3 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
c3 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 613779
Disease Ontology 12 DOID:8354
NCIt 47 C9468
Orphanet 56 ORPHA280133
ICD10 via Orphanet 34 D84.1
MedGen 40 C3151071
MeSH 42 D007154
UMLS 69 C1332655

Summaries for C3 Deficiency

OMIM : 54 The main clinical manifestation of primary C3 deficiency is childhood-onset of recurrent bacterial infections, mainly... (613779) more...

MalaCards based summary : C3 Deficiency, also known as complement component 3 deficiency, is related to immune system disease and primary immunodeficiency disease, and has symptoms including renal insufficiency, nephrotic syndrome and recurrent bacterial infections. An important gene associated with C3 Deficiency is C3 (Complement C3), and among its related pathways/superpathways are Innate Immune System and Influenza A. The drugs Midazolam and Morphine have been mentioned in the context of this disorder. Affiliated tissues include tonsil, t cells and bone.

UniProtKB/Swiss-Prot : 66 Complement component 3 deficiency: A rare defect of the complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic rashes, lupus-like syndrome and membranoproliferative glomerulonephritis.

Related Diseases for C3 Deficiency

Diseases related to C3 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
id Related Disease Score Top Affiliating Genes
1 immune system disease 12.0
2 primary immunodeficiency disease 11.4
3 vasculitis syndromes of the central and peripheral nervous systems 10.6
4 temporal arteritis 10.6
5 hypersensitivity reaction type ii disease 10.6
6 autoimmune disease of exocrine system 10.6
7 lymphatic system disease 10.6
8 otulipenia 10.6
9 allergic hypersensitivity disease 10.6
10 pdgfra-associated chronic eosinophilic leukemia 10.0 C3 CFP
11 chronic progressive external ophthalmoplegia 10.0 C3 CD46
12 hepatitis e 10.0 C3 C3AR1
13 macular degeneration, age-related, 13 10.0 C3 CFP
14 sjogren's syndrome 9.9
15 nephropathy familial with hyperuricemia 9.9 C3 CD46 CFP
16 newcastle disease 9.9
17 bronchiolitis 9.9 C3 CD46 CFP
18 malignant acth producing neoplasm of pituitary gland 9.9 C3 CFP
19 aids dementia complex 9.9 C3 CD46 CFP
20 heart valve disease 9.9 C3 CD46 CFP
21 meningitis 9.8
22 glomerulonephritis 9.7
23 hiv-1 9.7
24 pulmonary eosinophilia 9.7
25 membranous nephropathy 9.7
26 rift valley fever 9.7
27 iga glomerulonephritis 9.7
28 skin disease 9.7
29 swine influenza 9.7
30 lymphoma 9.7
31 influenza 9.7
32 bullous pemphigoid 9.7
33 mucopolysaccharidosis 9.6
34 obesity 9.6
35 hypoxia 9.6
36 mucopolysaccharidosis vii 9.6
37 synovitis 9.6
38 pneumococcal meningitis 9.6
39 pulmonary hypertension 9.6
40 atherosclerosis 9.6
41 immune-complex glomerulonephritis 9.6
42 spinal cord injury 9.6
43 pneumonia 9.6
44 lipodystrophy 9.6
45 pertussis 9.6
46 systemic lupus erythematosus 9.6
47 lupus erythematosus 9.6
48 macular degeneration, age-related, 9 9.0 C3 C3AR1 C5AR2 CD46 CFP HBB

Graphical network of the top 20 diseases related to C3 Deficiency:



Diseases related to C3 Deficiency

Symptoms & Phenotypes for C3 Deficiency

Symptoms by clinical synopsis from OMIM:

613779

Clinical features from OMIM:

613779

Human phenotypes related to C3 Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 nephrotic syndrome 32 HP:0000100
3 recurrent bacterial infections 32 HP:0002718
4 decreased serum complement c3 32 HP:0005421
5 membranoproliferative glomerulonephritis 32 HP:0000793

UMLS symptoms related to C3 Deficiency:


pathological conditions, signs and symptoms

Drugs & Therapeutics for C3 Deficiency

Drugs for C3 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1116)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4,Phase 2 59467-70-8 4192
2
Morphine Approved, Investigational Phase 4,Phase 3 57-27-2 5288826
3
Benzocaine Approved Phase 4,Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
4
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
5
Ritonavir Approved, Investigational Phase 4,Phase 3 155213-67-5 392622
6
Simvastatin Approved Phase 4,Phase 1 79902-63-9 54454
7
Fludrocortisone Approved Phase 4 127-31-1 31378
8
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 111025-46-8 4829
9
Omalizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 242138-07-4
10
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 174722-31-7 10201696
11
Pancrelipase Approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 53608-75-6
12
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
13
Azathioprine Approved Phase 4,Phase 3,Phase 2,Phase 1 446-86-6 2265
14
Febuxostat Approved Phase 4 144060-53-7 134018
15
Nitric Oxide Approved Phase 4 10102-43-9 145068
16
Nitroglycerin Approved, Investigational Phase 4,Phase 3,Early Phase 1 55-63-0 4510
17
Alcaftadine Approved Phase 4,Phase 3 147084-10-4 19371515
18
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 75614-87-8, 51-45-6 774
19
Linagliptin Approved Phase 4 668270-12-0 10096344
20
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
21
Voglibose Approved, Investigational Phase 4 83480-29-9 444020
22
Insulin Detemir Approved Phase 4,Phase 3,Phase 2,Phase 1 169148-63-4 5311023
23
Insulin Glargine Approved Phase 4,Phase 3,Phase 2,Phase 1 160337-95-1
24
Insulin Aspart Approved Phase 4,Phase 3,Phase 2,Phase 1 116094-23-6 16132418
25
Insulin Lispro Approved Phase 4,Phase 3,Phase 2,Phase 1 133107-64-9
26
Insulin-glulisine Approved Phase 4,Phase 3,Phase 2,Phase 1 207748-29-6
27
Liraglutide Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 204656-20-2
28
Glyburide Approved Phase 4,Phase 2,Phase 3 10238-21-8 3488
29
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-23-7 5754 657311
30
Ephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1 299-42-3 9294
31
Naphazoline Approved Phase 4,Phase 3 835-31-4 4436
32
Pheniramine Approved Phase 4,Phase 3 86-21-5 4761
33
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1 90-82-4 7028
34
Bacitracin Approved, Vet_approved Phase 4,Phase 2 1405-87-4 439542 10909430
35 Sodium thiosulfate Approved Phase 4
36
Cetirizine Approved Phase 4,Phase 3,Phase 2,Phase 1 83881-51-0 2678
37
Desloratadine Approved, Investigational Phase 4,Phase 3,Phase 2 100643-71-8 124087
38
Levocetirizine Approved Phase 4,Phase 3,Phase 2 130018-77-8
39
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2 143491-57-0 60877
40
Lopinavir Approved Phase 4,Phase 3 192725-17-0 92727
41
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
42
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 53-03-2 5865
43
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
44
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
45
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 185243-69-0
46
Selenium Approved, Vet_approved Phase 4,Phase 2 7782-49-2
47
Leflunomide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75706-12-6 3899
48
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
49
Asparaginase Approved Phase 4,Phase 3,Phase 2 9015-68-3
50
Cladribine Approved, Investigational Phase 4,Phase 2 4291-63-8 20279

Interventional clinical trials:

(show top 50) (show all 5007)
id Name Status NCT ID Phase
1 Effect of Midazolam on Inflammatory Response and Organ Function in Mechanically Ventilated Sepsis Patients With Different Immune Status Unknown status NCT02135055 Phase 4
2 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Unknown status NCT00815282 Phase 4
3 Normal Oxygenation Versus Hyperoxia in the Intensive Care Unit (ICU) Unknown status NCT01319643 Phase 4
4 An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4
5 Safety of Ertapenem in Beta-lactam Allergic Patients. Unknown status NCT01159379 Phase 4
6 Protease Inhibitor Monotherapy Versus Ongoing Triple-therapy in the Long Term Management of HIV Infection (PIVOT) Unknown status NCT01230580 Phase 4
7 Study of Endothelial Dysfunction in Systemic Lupus and Its Role in Heart Disease Unknown status NCT00188188 Phase 4
8 Efficacy and Adverse Effect of Simvastatin Compare to Rosuvastatin in Systemic Lupus Erythematosus (SLE) Patients With Corticosteroid Therapy and High Low-Density Lipoprotein (LDL) Cholesterol Level Unknown status NCT00866229 Phase 4
9 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4
10 Fludrocortisone's Test in Salt Sensitivity Unknown status NCT01453959 Phase 4
11 Acute Effects of an Oral Fat Load on Skeletal Muscle and Hepatic Insulin Sensitivity Unknown status NCT01736202 Phase 4
12 Pioglitazone, Body Composition,Insulin Sensitivity and Protein Metabolism in ESRD Unknown status NCT01253928 Phase 4
13 A Trial to Study the Effect of Long Term Vitamin D Supplementation on Insulin Sensitivity Unknown status NCT01052181 Phase 4
14 Effect of Xolair on Airway Hyperresponsiveness Unknown status NCT00208234 Phase 4
15 Manipulation of Visceral Sensitivity and Immune System in IBS Unknown status NCT00418340 Phase 4
16 Immune Intervention With Rituximab to Preserve Beta Cell Function in Early Onset Type 1 Diabetes Unknown status NCT01280682 Phase 4
17 Mixed Meal Test in Type 1 Diabetes: Optimization of Artificial Pancreas-Pilot Study Unknown status NCT01800734 Phase 4
18 Mixed Meal Test in Type 1 Diabetes on Insulin Pump Therapy: Optimization of Artificial Pancreas Unknown status NCT02003274 Phase 4
19 Prevention of Relapses in Proteinase 3 (PR3)-Anti-neutrophil Cytoplasmic Antibodies (ANCA)-Associated Vasculitis Unknown status NCT00128895 Phase 4
20 The Effect of Uric Acid Lowering in Type 1 Diabetes Unknown status NCT02344602 Phase 4
21 Ocular Allergy Treatment Practical Impact Trial Unknown status NCT01808768 Phase 4
22 A Prospective Study of the Kidney Protective Effect of Aliskiren in Hypertensive Patients With IgA Nephropathy Unknown status NCT01184599 Phase 4
23 Effect of Linagliptin on Insulin Sensitivity and Pancreatic Beta Cell Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02097342 Phase 4
24 Comparing Long-acting Insulins During Exercise in Type 1 Diabetes Unknown status NCT01440439 Phase 4
25 Treatment of Low Blood Sugar With Glucagon Among Patients With Type 1 Diabetes Unknown status NCT02232971 Phase 4
26 CONSISTENT 1: Metabolic and Safety Outcomes of Hylenex Recombinant (Hyaluronidase Human Injection) Preadministered at CSII Infusion Site in Participants With Type 1 Diabetes Mellitus (T1DM) Unknown status NCT01848990 Phase 4
27 52 Week Trial of Liraglutide in Type 1 Diabetes Unknown status NCT01787916 Phase 4
28 Psychosocial Issues in Insulin Pump Therapy in Children With Type 1 DM Unknown status NCT01338922 Phase 4
29 Timing of Initiation of Continuous Glucose Monitoring in Established Pediatric Diabetes (The CGM TIME Trial) Unknown status NCT01295788 Phase 4
30 Basal Analog Study - Comparison of Lantus or Levemir With NPH Insulin From T1DM Diagnosis Unknown status NCT01271517 Phase 4
31 Real-Time Continuous Glucose Monitoring in Pre-School Children With Type-1 Diabetes Mellitus Unknown status NCT01016457 Phase 4
32 Do Sulphonylureas Preserve Cortical Function During Hypoglycaemia? Unknown status NCT00472875 Phase 4
33 Insulin NovoRapid Versus Actrapid in Treatment of Type 1 Diabetic Patients During Daily Adjustment of Insulin Dose Unknown status NCT00145353 Phase 4
34 Comparison of Tolerability Between Two Allergy Drops Unknown status NCT01390961 Phase 4
35 The Effect of BEPREVE 1.5% on Tear Film Osmolarity and Tear Film Lipid Layer Unknown status NCT01346371 Phase 4
36 Use of BEPREVE (Bepotastine Besilate Ophthalmic Solution) 1.5% for Allergic Conjunctivitis and Contact Lenses Unknown status NCT01337557 Phase 4
37 Clinical Evaluation of T.R.U.E. Test Allergens in Children an Adolescents Unknown status NCT01797562 Phase 4
38 Quaternium-15, Use Test Unknown status NCT00311454 Phase 4
39 The Efficacy and Safety of Desloratadine With Levocetirizine in Treatment of Chronic Idiopathic Urticaria Unknown status NCT00346606 Phase 4
40 Impact of Vitamin A on Multiple Sclerosis (MS) Unknown status NCT01417273 Phase 4
41 Immune Reconstitution as a Determinant of Adverse Effects to New Antiretroviral Therapy in Persons With Advanced HIV Infection Unknown status NCT00885664 Phase 4
42 Effects of Enteral Nutrition and Corticosteroid on Intestinal Flora in Induction Remission of Crohn Disease in Adult Unknown status NCT02056418 Phase 4
43 Mycophenolate Mofetil in Antiretroviral Naïve Patients 2 (MAN2 Study) Unknown status NCT00120419 Phase 4
44 Targeting Synovitis in Early Rheumatoid Arthritis Unknown status NCT00920478 Phase 4
45 Selenium Supplementation in Pregnancy Unknown status NCT01465867 Phase 4
46 Effect of Tocilizumab to the Cellular Immune Response to Influenza Vaccine Unknown status NCT01980836 Phase 4
47 Efficacy Study of Leflunomide to Treat Juvenile Idiopathic Arthritis Unknown status NCT02024334 Phase 4
48 Evaluation Effects of Treatment With IL-6R Inhibitor on Clinical Response and Biomarkers in Patients With Rheumatoid Arthritis (RA) Not Responding to DMARDs and/or a First Biological Agent. Unknown status NCT01835613 Phase 4
49 German Multicenter Trial for Treatment of Newly Diagnosed Acute Lymphoblastic Leukemia in Adults (07/2003) Unknown status NCT00198991 Phase 4
50 Safety and Efficacy of Gardasil in Females With Juvenile Idiopathic Arthritis (JIA)/Seronegative Arthritis Unknown status NCT00573651 Phase 4

Search NIH Clinical Center for C3 Deficiency

Cochrane evidence based reviews: immune system diseases

Genetic Tests for C3 Deficiency

Genetic tests related to C3 Deficiency:

id Genetic test Affiliating Genes
1 Complement Component 3 Deficiency, Autosomal Recessive 29
2 C3 Deficiency 29
3 C3 Deficiency, Autosomal Recessive 24 C3

Anatomical Context for C3 Deficiency

MalaCards organs/tissues related to C3 Deficiency:

39
Tonsil, T Cells, Bone, B Cells, Bone Marrow, Brain, Spinal Cord

Publications for C3 Deficiency

Articles related to C3 Deficiency:

(show top 50) (show all 54)
id Title Authors Year
1
Hereditary Homozygous C3 Deficiency. ( 28435995 )
2017
2
C3 deficiency ameliorates the negative effects of irradiation of the young brain on hippocampal development and learning. ( 27029069 )
2016
3
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency. ( 26847111 )
2016
4
Clinical characteristics and genotype-phenotype correlations in C3 deficiency. ( 26435005 )
2015
5
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. ( 25559179 )
2015
6
Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. ( 24321396 )
2014
7
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. ( 23963626 )
2013
8
Rheumatoid factor-positive synovitis in a patient with C3 deficiency. ( 23043374 )
2012
9
Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. ( 23117396 )
2012
10
Complement C3 deficiency prevent against the onset of streptozotocin-induced autoimmune diabetes involving expansion of regulatory T cells. ( 21767994 )
2011
11
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. ( 21501302 )
2011
12
Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. ( 22194859 )
2011
13
Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. ( 20800648 )
2010
14
Screening for C3 deficiency in newborns using microarrays. ( 19390687 )
2009
15
Recurrent meningitis secondary to isolated C3 deficiency. ( 19391010 )
2009
16
[An exceptional component C3 deficiency revealed by serum protein electrophoresis]. ( 19939777 )
2009
17
Complement C3 deficiency leads to accelerated amyloid beta plaque deposition and neurodegeneration and modulation of the microglia/macrophage phenotype in amyloid precursor protein transgenic mice. ( 18562603 )
2008
18
Immune complex glomerulonephritis following bone marrow transplantation in C3 deficient mice. ( 18836527 )
2008
19
The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency. ( 18201916 )
2008
20
Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. ( 18802120 )
2008
21
Recurrent meningitis in a family with C3 deficiency. ( 16585828 )
2006
22
A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene. ( 16158444 )
2005
23
Apolipoprotein C3 deficiency results in diet-induced obesity and aggravated insulin resistance in mice. ( 15734841 )
2005
24
Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. ( 15781264 )
2005
25
Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. ( 14639503 )
2004
26
Effect of complement component C3 deficiency on experimental Lyme borreliosis in mice. ( 12874322 )
2003
27
Homozygous hereditary C3 deficiency due to a premature stop codon. ( 12462331 )
2002
28
Influence of C3 deficiency on atherosclerosis. ( 12081998 )
2002
29
Recurrent pneumococcal meningitis in homozygous C3 deficiency. ( 12173704 )
2002
30
Hereditary human complement C3 deficiency owing to reduced levels of C3 mRNA. ( 11422912 )
2001
31
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. ( 11139258 )
2001
32
Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. ( 9510185 )
1998
33
Acquired C3 deficiency in patients with alcoholic cirrhosis predisposes to infection and increased mortality. ( 9176087 )
1997
34
Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred. ( 8938101 )
1996
35
Compound heterozygous complement C3 deficiency. ( 7890305 )
1995
36
A hereditary C3 deficiency due to aberrant splicing of exon 10. ( 7923934 )
1994
37
Complement C3 deficiency: human, animal, and experimental models. ( 8031472 )
1994
38
Inherited complement C3 deficiency: a defect in C3 secretion. ( 8026514 )
1994
39
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (Asp549 to Asn) impairs C3 secretion. ( 7961791 )
1994
40
Inherited C3 deficiency and meningococcal disease in a teenager. ( 1630861 )
1992
41
Homozygous hereditary C3 deficiency due to a partial gene deletion. ( 1350678 )
1992
42
An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies. ( 1544226 )
1992
43
Homozygous C3 deficiency associated with IgA nephropathy. ( 1944729 )
1991
44
Molecular basis of hereditary C3 deficiency. ( 2212005 )
1990
45
Molecular basis of complement C3 deficiency in guinea pigs. ( 1973176 )
1990
46
Inherited C3 deficiency with recurrent infections and glomerulonephritis. ( 2963536 )
1988
47
Inherited C3 deficiency of the complement system. ( 3264513 )
1988
48
C3 deficiency presenting as Raynaud's phenomenon in a 6-year-old girl with a persistent erythematous rash. ( 3742869 )
1986
49
Selective C3 deficiency due to C3 nephritic factor in an apparently healthy girl. ( 3834579 )
1985
50
Partial lipodystrophy and familial C3 deficiency. ( 7358404 )
1980

Variations for C3 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for C3 Deficiency:

66
id Symbol AA change Variation ID SNP ID
1 C3 p.Asp549Asn VAR_001985

ClinVar genetic disease variations for C3 Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 C3 C3, 61-BP DEL, EX18 deletion Pathogenic
2 C3 NG_009557.1: g.(28821_28842)_(29653_29671)del deletion Pathogenic GRCh38 Chromosome 19, 6695981: 6696831
3 C3 C3, IVS38AS, A-G single nucleotide variant Pathogenic

Expression for C3 Deficiency

Search GEO for disease gene expression data for C3 Deficiency.

Pathways for C3 Deficiency

GO Terms for C3 Deficiency

Cellular components related to C3 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tertiary granule lumen GO:1904724 8.62 CFP HBB

Biological processes related to C3 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.58 C3 CD46 CFP
2 inflammatory response GO:0006954 9.5 C3 C3AR1 C5AR2
3 positive regulation of angiogenesis GO:0045766 9.46 C3 C3AR1
4 complement activation GO:0006956 9.43 C3 CFP
5 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007200 9.37 C3AR1 C5AR2
6 positive regulation of vascular endothelial growth factor production GO:0010575 9.26 C3 C3AR1
7 neutrophil degranulation GO:0043312 9.26 C3 C3AR1 CFP HBB
8 complement activation, alternative pathway GO:0006957 9.16 C3 CFP
9 regulation of complement activation GO:0030449 9.02 C3 C3AR1 C5AR2 CD46 CFP

Sources for C3 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
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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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