Complement Factor B Deficiency; Cfbd

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Complement Factor B Deficiency; Cfbd

Clinical Features

Phenotypes and symptoms related to Complement Factor B Deficiency; Cfbd

Recurrent infections
Pneumonia
Meningitis
Peritonitis
Recurrent meningococcal disease
Decreased serum complement factor B

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Complement Factor B Deficiency; Cfbd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for CFB-Related Atypical Hemolytic-Uremic Syndrome. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). CFB Specificity 100 % Genes 100 %
AHUS/MPGN panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). CFB, THBD, C3, APLN, CFHR5, CFH, CFI, CD46 Specificity 13 % Genes 100 %
Genetic Renal Panel. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States). CFB, THBD, C3, ADAMTS13, CFHR3, MMACHC, CFHR5, DGKE, CFH, CFHR1, CFI, CD46, PLG Specificity 8 % Genes 100 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). CFB, THBD, C3, CFHR3, CFHR5, DGKE, CFH, CFHR1, CFI, CD46 Specificity 10 % Genes 100 %
CFB Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). CFB Specificity 100 % Genes 100 %
CFB Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). CFB Specificity 100 % Genes 100 %
aHUS Genetic Susceptibility Deletion/duplication panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). CFB, THBD, C3, DGKE, CFI Specificity 20 % Genes 100 %
Thrombocytopenia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...) View the complete list with 23 more genes Panel complete gene list CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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