C5 gene related symptoms and diseases

All the information presented here about the C5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to C5 gene

Symptoms // Phenotype % Cases
Hemoglobinuria Common - Between 50% and 80% cases
Paroxysmal nocturnal hemoglobinuria Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
C8 deficiency Uncommon - Between 30% and 50% cases
Recurrent meningitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with C5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Discoid lupus rash
  • Intractable diarrhea
  • Complement deficiency
  • Seborrheic dermatitis
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent bacterial infections
  • Meningitis

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to C5 gene

Here you will find a list of rare diseases related to the C5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMPLEMENT COMPONENT 5 DEFICIENCY; C5D


Alternate names

COMPLEMENT COMPONENT 5 DEFICIENCY; C5D Is also known as c5 deficiency

Description

A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.

Most common symptoms of COMPLEMENT COMPONENT 5 DEFICIENCY; C5D

  • Diarrhea
  • Recurrent infections
  • Pneumonia
  • Otitis media
  • Inflammatory abnormality of the skin


More info about COMPLEMENT COMPONENT 5 DEFICIENCY; C5D

SOURCES: OMIM

ECULIZUMAB, POOR RESPONSE TO


Most common symptoms of ECULIZUMAB, POOR RESPONSE TO

  • Hemoglobinuria
  • Paroxysmal nocturnal hemoglobinuria


More info about ECULIZUMAB, POOR RESPONSE TO

SOURCES: OMIM

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 C5 gene

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

C5 deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the C5 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

C5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C5 gene.

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


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