C2 gene related symptoms and diseases

All the information presented here about the C2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to C2 gene

Symptoms // Phenotype % Cases
Membranoproliferative glomerulonephritis Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Discoid lupus rash Common - Between 50% and 80% cases
Glomerulonephritis Common - Between 50% and 80% cases
Systemic lupus erythematosus Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with C2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Autoimmunity
  • Skin rash
  • Recurrent infections
  • Immunodeficiency
  • Renal insufficiency
  • Not very common - Between 30% and 50% cases

  • Antinuclear antibody positivity
  • Fatigable weakness
  • Rheumatoid arthritis

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to C2 gene

Here you will find a list of rare diseases related to the C2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY


Alternate names

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency, immunodeficiency due to an early component of complement deficiency

Description

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

Most common symptoms of IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

SOURCES: OMIM ORPHANET

COMPLEMENT COMPONENT 2 DEFICIENCY; C2D


Alternate names

COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Most common symptoms of COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

SOURCES: OMIM

MACULAR DEGENERATION, AGE-RELATED, 14; ARMD14



More info about MACULAR DEGENERATION, AGE-RELATED, 14; ARMD14

SOURCES: OMIM


Potential gene panels for C2 gene

C2 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 C2 gene.

More info about this panel

C2 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 C2 gene.

More info about this panel

C2 deficiency (sequence analysis of C2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the C2 gene.

More info about this panel

C2 deficiency Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the C2 gene.

More info about this panel

C2 deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the C2 gene.

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

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

C2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C2 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

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

Complement Component C2 Deficiency , Sequencing C2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the C2 gene.

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


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