CFP gene related symptoms and diseases

All the information presented here about the CFP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CFP gene

Symptoms // Phenotype % Cases
Abnormality of metabolism/homeostasis Very Common - Between 80% and 100% cases
Meningitis Very Common - Between 80% and 100% cases
Complement deficiency Very Common - Between 80% and 100% cases
Dysfunctional alternative complement pathway Very Common - Between 80% and 100% cases

Rare diseases associated to CFP gene

Here you will find a list of rare diseases related to the CFP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PROPERDIN DEFICIENCY

Alternate names

PROPERDIN DEFICIENCY Is also known as complement factor properdin deficiency, pfd, properdin deficiency, type i, properdin p factor deficiency

Description

Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.

Most common symptoms of PROPERDIN DEFICIENCY

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


More info about PROPERDIN DEFICIENCY

SOURCES: ORPHANET OMIM MESH


Potential gene panels for CFP gene

Properdin deficiency, X-linked Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the CFP gene.

More info about this panel
Netherlands.

CFP. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFP gene.

More info about this panel
Spain.

Properdin deficiency, X-linked Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CFP gene.

More info about this panel
Germany.

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
Germany.

Test for CFP- Related Atypical Hemolytic Uremic Syndrome Panel

Spain.

By Secugen SL

This panel specifically test the CFP gene.

More info about this panel
Spain.

Properdin deficiency: CFP gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CFP gene.

More info about this panel
Spain.

CFP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CFP gene.

More info about this panel
United States.

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel
United States.

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel
Finland.

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
Finland.

PROPERDIN DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CFP gene.

More info about this panel
Spain.

X-Linked Properdin Deficiency , Sequencing CFP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CFP gene.

More info about this panel
Spain.

Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 CFHR5 DGKE CFH CFHR1 CFI

More info about this panel
Spain.

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