C7 gene related symptoms and diseases

All the information presented here about the C7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to C7 gene

Symptoms // Phenotype % Cases
Fever Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
Telangiectasia Uncommon - Between 30% and 50% cases
Meningitis Uncommon - Between 30% and 50% cases
Vasculitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with C7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Raynaud phenomenon
  • Complement deficiency
  • Pyoderma
  • Sclerodactyly
  • Vasculitis in the skin
  • Subcutaneous calcification
  • Recurrent meningococcal disease
  • Recurrent meningitis

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to C7 gene

Here you will find a list of rare diseases related to the C7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMPLEMENT COMPONENT 7 DEFICIENCY; C7D

Alternate names

COMPLEMENT COMPONENT 7 DEFICIENCY; C7D Is also known as c7 deficiency

Most common symptoms of COMPLEMENT COMPONENT 7 DEFICIENCY; C7D

  • Fever
  • Arthritis
  • Telangiectasia
  • Meningitis
  • Vasculitis


More info about COMPLEMENT COMPONENT 7 DEFICIENCY; C7D

SOURCES: OMIM MESH

IMMUNODEFICIENCY DUE TO A LATE COMPONENT OF COMPLEMENT DEFICIENCY

Alternate names

IMMUNODEFICIENCY DUE TO A LATE COMPONENT OF COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c5 to c9 component complement deficiency, terminal complement pathway deficiency

Description

Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.


More info about IMMUNODEFICIENCY DUE TO A LATE COMPONENT OF COMPLEMENT DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for C7 gene

C7 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 C7 gene.

More info about this panel
United States.

C7 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 C7 gene.

More info about this panel
United States.

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
Germany.

C7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C7 gene.

More info about this panel
United States.

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
Finland.

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