KLKB1 gene related symptoms and diseases

All the information presented here about the KLKB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KLKB1 gene

Symptoms // Phenotype % Cases
Autoimmunity Very Common - Between 80% and 100% cases
Arthrogryposis multiplex congenita Very Common - Between 80% and 100% cases
Abnormal bleeding Very Common - Between 80% and 100% cases
Prolonged partial thromboplastin time Very Common - Between 80% and 100% cases
Graves disease Very Common - Between 80% and 100% cases

Rare diseases associated to KLKB1 gene

Here you will find a list of rare diseases related to the KLKB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL PREKALLIKREIN DEFICIENCY


Alternate names

CONGENITAL PREKALLIKREIN DEFICIENCY Is also known as pkk deficiency, fletcher factor deficiency

Description

A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.

Most common symptoms of CONGENITAL PREKALLIKREIN DEFICIENCY

  • Autoimmunity
  • Arthrogryposis multiplex congenita
  • Abnormal bleeding
  • Prolonged partial thromboplastin time
  • Graves disease


More info about CONGENITAL PREKALLIKREIN DEFICIENCY

SOURCES: ORPHANET OMIM MESH


Potential gene panels for KLKB1 gene

Platelet Disorders Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3

More info about this panel

KLKB1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the KLKB1 gene.

More info about this panel

Fletcher factor deficiency (sequence analysis of KLKB1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KLKB1 gene.

More info about this panel

KLKB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLKB1 gene.

More info about this panel


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