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).

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
And another 3 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STORAGE POOL PLATELET DISEASE LEBER CONGENITAL AMAUROSIS 10; LCA10 GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1 JOUBERT SYNDROME WITH OCULAR DEFECT

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more