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


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

C8B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C8B 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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