KNG1 gene related symptoms and diseases
All the information presented here about the KNG1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KNG1 gene
Symptoms // Phenotype | % Cases |
---|---|
Visual impairment | Very Common - Between 80% and 100% cases |
Vomiting | Very Common - Between 80% and 100% cases |
Headache | Very Common - Between 80% and 100% cases |
Loss of consciousness | Very Common - Between 80% and 100% cases |
Prolonged partial thromboplastin time | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KNG1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Venous occlusion
- Reduced kininogen activity
Rare diseases associated to KNG1 gene
Here you will find a list of rare diseases related to the KNG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL HIGH-MOLECULAR-WEIGHT KININOGEN DEFICIENCY
Alternate names
CONGENITAL HIGH-MOLECULAR-WEIGHT KININOGEN DEFICIENCY Is also known as kininogen deficiency, high molecular weight, hmwk deficiency, fitzgerald trait
Description
High molecular weight kininogen (HMWK) deficiency is an autosomal recessive coagulation defect. It is known by a variety of names, including Fitzgerald trait, Flaujeac trait, and Williams trait. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis. Fitzgerald trait represents a 'true' deficiency of HMWK, whereas Flaujeac and Williams traits represent total kininogen deficiency, in which both HMWK and low molecular weight kininogen (LMWK) are deficient. HMWK and LMWK are both encoded by the KNG1 gene (OMIM ) (Bick, 2002; Takagaki et al., 1985).
Most common symptoms of CONGENITAL HIGH-MOLECULAR-WEIGHT KININOGEN DEFICIENCY
- Visual impairment
- Vomiting
- Headache
- Loss of consciousness
- Prolonged partial thromboplastin time
More info about CONGENITAL HIGH-MOLECULAR-WEIGHT KININOGEN DEFICIENCY
Search interest in KNG1
Potential gene panels for KNG1 gene
KNG1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KNG1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BCL3 DYM HCRT RLIM AFF4 TUBB2A HOXD13