C3 gene related symptoms and diseases

All the information presented here about the C3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to C3 gene

Symptoms // Phenotype % Cases
Proteinuria Common - Between 50% and 80% cases
Hematuria Common - Between 50% and 80% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Membranoproliferative glomerulonephritis Uncommon - Between 30% and 50% cases
Anuria Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with C3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Increased blood urea nitrogen
  • Hemolytic-uremic syndrome
  • Elevated serum creatinine
  • Acute kidney injury
  • Stage 5 chronic kidney disease
  • Thrombocytopenia
  • Hypertension
  • Tonsillitis

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to C3 gene

Here you will find a list of rare diseases related to the C3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9



More info about MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9

SOURCES: OMIM MESH

COMPLEMENT COMPONENT 3 DEFICIENCY


Alternate names

COMPLEMENT COMPONENT 3 DEFICIENCY Is also known as c3 deficiency, autosomal recessive, c3 deficiency

Description

Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.

Most common symptoms of COMPLEMENT COMPONENT 3 DEFICIENCY

  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Proteinuria
  • Respiratory tract infection


More info about COMPLEMENT COMPONENT 3 DEFICIENCY

SOURCES: MESH OMIM ORPHANET

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY


Alternate names

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY Is also known as ahus with c3 anomaly, hemolytic-uremic syndrome without diarrhea with c3 anomaly, atypical hus with c3 anomaly, d-hus with c3 anomaly, ahus, susceptibility to, 5

Most common symptoms of ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY

  • Hypertension
  • Thrombocytopenia
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Hematuria


More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY

SOURCES: ORPHANET OMIM


Potential gene panels for C3 gene

Test for C3-Related Atypical Hemolytic-Uremic Syndrome Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the C3 gene.

More info about this panel

AHUS/MPGN panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht AHUS/MPGN panel that also includes the following genes: CFB THBD C3 APLN CFHR5 CFH CFI CD46

More info about this panel

Genetic Renal Panel Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics Genetic Renal Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel that also includes the following genes: CFB THBD C3 CFHR3 CFHR5 DGKE CFH CFHR1 CFI CD46

More info about this panel

C3 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the C3 gene.

More info about this panel

C3 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the C3 gene.

More info about this panel

aHUS Genetic Susceptibility Deletion/duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center aHUS Genetic Susceptibility Deletion/duplication panel that also includes the following genes: CFB THBD C3 DGKE CFI

More info about this panel

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13

More info about this panel

C3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the C3 gene.

More info about this panel

Hemolytic uremic syndrome, atypical 5 (sequence analysis of C3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the C3 gene.

More info about this panel

Primary immunodeficiency (sequence analysis of C3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the C3 gene.

More info about this panel

Atypical hemolytic uremic syndrome (NGS panel for 14 genes) Panel

Portugal.

By CGC Genetics Atypical hemolytic uremic syndrome (NGS panel for 14 genes) that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 MMACHC CFHR5 DGKE CFH

More info about this panel

Atypical hemolytic uremic syndrome type 5 (deletions/duplications analysis of C3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the C3 gene.

More info about this panel

Atypical hemolytic uremic syndrome type 5 (deletions/duplications analysis of C3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the C3 gene.

More info about this panel

C3 Sequence Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the C3 gene.

More info about this panel

Complement component 3 deficiency, autosomal recessive Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the C3 gene.

More info about this panel

Atypical hemolytic-uremic syndrome 5 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the C3 gene.

More info about this panel

AHUS/MPGN panel Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders AHUS/MPGN panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CLU CFHR5 CFH CFHR1

More info about this panel

Atypical Hemolytic-Uremic Syndrome Panel Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Atypical Hemolytic-Uremic Syndrome Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CLU CFHR5 CFH CFHR1

More info about this panel

Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical hemolytic uremic syndrome Panel

United Kingdom.

By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust Atypical hemolytic uremic syndrome that also includes the following genes: CFB THBD C3 C5 ADAMTS13 INF2 MMACHC DGKE CFH CFI

More info about this panel

Atypical hemolytic-uremic syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Atypical hemolytic-uremic syndrome that also includes the following genes: CFB THBD C3 MMACHC DGKE CFH CFI CD46

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

C3-Related Atypical Hemolytic-Uremic Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the C3 gene.

More info about this panel

Atypical hemolytic uremic syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Atypical hemolytic uremic syndrome panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE CFH CFHR1

More info about this panel

C3 deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the C3 gene.

More info about this panel

Hemolytic Uremic Syndrome Panel Panel

Germany.

By CeGaT GmbH Hemolytic Uremic Syndrome Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE CFH CFHR1

More info about this panel

Complement deficiencies Panel Panel

Germany.

By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3

More info about this panel

C3-Related Atypical Hemolytic-Uremic Syndrome Panel

Spain.

By Secugen SL

This panel specifically test the C3 gene.

More info about this panel

aHUS/DDD Genetic Evaluation Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aHUS/DDD Genetic Evaluation that also includes the following genes: CFB THBD C3 C4BPA C4BPB ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE

More info about this panel

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel

Hemolytic-uremic, syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hemolytic-uremic, syndrome that also includes the following genes: CFB THBD C3 CFHR4 CFHR3 CFHR5 CFH CFHR1 CFHR2 CFI

More info about this panel

Macular Degeneration NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3

More info about this panel

C3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C3 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Complement System Disorder Panel Panel

Finland.

By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S

More info about this panel

Hemolytic Uremic Syndrome Panel Panel

Finland.

By Blueprint Genetics Hemolytic Uremic Syndrome Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR5 DGKE CFH CFI CD46

More info about this panel

Complement component 3 deficiency Panel

Spain.

By Bioarray

This panel specifically test the C3 gene.

More info about this panel

aHUS/TMA/C3 Glomerulopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis aHUS/TMA/C3 Glomerulopathy Gene Set that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE CFH CFHR1

More info about this panel

COMPLEMENT C3 DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the C3 gene.

More info about this panel

ATYPICAL HEMOLYTIC UREMIC SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME that also includes the following genes: CFB THBD C3 DGKE CFH CFI CD46

More info about this panel

ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL that also includes the following genes: CFB THBD C1S C2 C3 C3AR1 C8A C9 CFHR4 CFHR3

More info about this panel

Atypical Hemolytic Uremic Syndrome, Sequencing C3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the C3 gene.

More info about this panel

Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: CFB THBD C3 CFHR4 CFHR3 CFHR5 CFH CFHR1 CFI CD46

More info about this panel

Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes Panel

Spain.

By Reference Laboratory Genetics Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: CFB C2 C3 C9 RAX2 HMCN1 CST3 CX3CR1 ARMS2 ABCA4

More info about this panel

Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 CFHR5 DGKE CFH CFHR1 CFI

More info about this panel


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