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
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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

SOURCES: MESH ORPHANET OMIM


Potential gene panels for KNG1 gene

KNG1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KNG1 gene.

More info about this panel


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