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HRG gene related symptoms and diseases

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

Table of contents:

Top 5 symptoms and clinical features associated to HRG gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Pruritus Very Common - Between 80% and 100% cases
Venous thrombosis Very Common - Between 80% and 100% cases
Thromboembolism Very Common - Between 80% and 100% cases
Pulmonary embolism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HRG gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Deep venous thrombosis
  • Hypercoagulability
  • Supraventricular tachycardia
  • Abnormal thrombosis
  • Arteriovenous fistula
  • Recurrent thromboembolism

Rare diseases associated to HRG gene

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


HEREDITARY THROMBOPHILIA DUE TO CONGENITAL HISTIDINE-RICH (POLY-L) GLYCOPROTEIN DEFICIENCY

Alternate names

HEREDITARY THROMBOPHILIA DUE TO CONGENITAL HISTIDINE-RICH (POLY-L) GLYCOPROTEIN DEFICIENCY Is also known as hereditary thrombophilia due to congenital hrg deficiency

Description

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.

Most common symptoms of HEREDITARY THROMBOPHILIA DUE TO CONGENITAL HISTIDINE-RICH (POLY-L) GLYCOPROTEIN DEFICIENCY

  • Pain
  • Pruritus
  • Venous thrombosis
  • Thromboembolism
  • Pulmonary embolism


More info about HEREDITARY THROMBOPHILIA DUE TO CONGENITAL HISTIDINE-RICH (POLY-L) GLYCOPROTEIN DEFICIENCY

SOURCES: MESH ORPHANET OMIM


Potential gene panels for HRG gene

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel
United States.

HRG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HRG gene.

More info about this panel
United States.

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