Properdin Deficiency, X-linked; Cfpd

Description

Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001).

Clinical Features

Phenotypes and symptoms related to Properdin Deficiency, X-linked; Cfpd

  • Abnormality of metabolism/homeostasis
  • Meningitis
  • Complement deficiency
  • Dysfunctional alternative complement pathway

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Properdin Deficiency, X-linked; Cfpd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Properdin deficiency, X-linked.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CFP
Specificity
100 %
Genes
100 %
CFP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CFP
Specificity
100 %
Genes
100 %
Properdin deficiency, X-linked.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFP
Specificity
100 %
Genes
100 %
Properdin deficiency, X-linked.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFP
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 %
Test for CFP- Related Atypical Hemolytic Uremic Syndrome.

By Secugen SL in Spain.

CFP
Specificity
100 %
Genes
100 %
Properdin deficiency: CFP gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CFP
Specificity
100 %
Genes
100 %
CFP.

By Fulgent Genetics Fulgent Genetics in United States.

CFP
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
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 %
X-Linked Properdin Deficiency , Sequencing CFP Gene.

By Reference Laboratory Genetics in Spain.

CFP
Specificity
100 %
Genes
100 %
Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFP
Specificity
9 %
Genes
100 %

Alternate names

Properdin Deficiency, X-linked; Cfpd Is also known as properdin p factor deficiency;pfd, complement factor properdin deficiency, properdin deficiency, type i;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA 3; THC3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more