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
Search interest in KLKB1
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 United States.
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 United States.
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 Portugal.
KLKB1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KLKB1 gene.
More info about this panel United States.
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