Complement Factor D Deficiency; Cfdd
Description
Complement factor D deficiency is an autosomal recessive immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway (summary by Biesma et al., 2001).
Genes related to Complement Factor D Deficiency; Cfdd
- CFD
Clinical Features
Top most frequent phenotypes and symptoms related to Complement Factor D Deficiency; Cfdd
- Fever
- Diarrhea
- Vomiting
- Recurrent infections
- Respiratory tract infection
- Skin rash
- Cough
- Meningitis
- Recurrent bacterial infections
- Purpura
Incidence and onset information
— Not enough data available about incidence and published cases.
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Complement Factor D Deficiency; Cfdd Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
CFD Gene Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
CFD
Specificity
100 %
Genes
100 % |
CFD Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
CFD
Specificity
100 %
Genes
100 % |
Complement factor D deficiency.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.
CFD
Specificity
100 %
Genes
100 % |
Complement deficiencies Panel.
By CeGaT GmbH in Germany.
PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
CFD.
By Fulgent Genetics Fulgent Genetics in United States.
CFD
Specificity
100 %
Genes
100 % |
Primary Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 255 more genes
Specificity
1 %
Genes
100 % |
Complement System Disorder Panel.
By Blueprint Genetics in Finland.
CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...)
View the complete list with 55 more genes
Specificity
2 %
Genes
100 % |
Alternate names
Complement Factor D Deficiency; Cfdd Is also known as factor d deficiency;.
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