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.
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
Search interest in C5
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 United Kingdom.
C5 deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the C5 gene.
More info about this panel Germany.
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.
C5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C5 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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