C8B gene related symptoms and diseases
All the information presented here about the C8B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to C8B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Arthritis | Uncommon - Between 30% and 50% cases |
| Meningitis | Uncommon - Between 30% and 50% cases |
| Antinuclear antibody positivity | Uncommon - Between 30% and 50% cases |
| C8 deficiency | Uncommon - Between 30% and 50% cases |
| Recurrent Neisserial infections | Uncommon - Between 30% and 50% cases |
Rare diseases associated to C8B gene
Here you will find a list of rare diseases related to the C8B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2
Alternate names
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2 Is also known as c8b deficiency, complement component 8b deficiency, c8 beta deficiency, c8 deficiency, type ii
Description
Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two types of inherited C8 deficiency have been reported in man: type I (OMIM ), in which only C8 alpha (C8A, {120950}) and C8 gamma (C8G ) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).
Most common symptoms of COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2
- Arthritis
- Meningitis
- Antinuclear antibody positivity
- C8 deficiency
- Recurrent Neisserial infections
More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2
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 C8B
Potential gene panels for C8B gene
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.
C8B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C8B 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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