Thrombophilia Due To Histidine-rich Glycoprotein Deficiency; Thph11

Clinical Features

Phenotypes and symptoms related to Thrombophilia Due To Histidine-rich Glycoprotein Deficiency; Thph11

  • Milia
  • Venous thrombosis
  • Pulmonary embolism
  • Thromboembolism
  • Hypercoagulability
  • Supraventricular tachycardia
  • Arteriovenous fistula
  • Recurrent thromboembolism

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Thrombophilia Due To Histidine-rich Glycoprotein Deficiency; Thph11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
HRG.

By Fulgent Genetics Fulgent Genetics in United States.

HRG
Specificity
100 %
Genes
100 %

Alternate names

Thrombophilia Due To Histidine-rich Glycoprotein Deficiency; Thph11 Is also known as ;hereditary thrombophilia due to congenital hrg deficiency.


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