1 Matching Annotations
  1. Last 7 days
    1. Type 2M Von Willebrand Disease: A Case Report

      Case: 24-year-old Caucasian woman with a rare variety of type 2M VWD

      DiseaseAssertion: 2M VWD

      FamilyInfo: family history was negative for easy bruisability, bleeding, or clotting disorder but maternal grandmother had lung cancer.

      CaseNOTHPOFreeText: Von Willebrand factor antigen 45% on 9/12/17 and 37% on 9/19/17 with the ratio of VWF activity to the antigen is less than 0.7

      ParentalGenotype(s):Unknown

      CasePresentingHPOs: HP:0003010 (Prolonged bleeding time), HP:0000978 (Bruising susceptibility).

      **CaseHPOFreeText: ** loss of weight over the last six months, The complete blood count, comprehensive metabolic panel, factor VIII, prothrombin time and partial thromboplastin time, D-Dimer, and antithrombin activity were normal. Her von Willebrand factor activity was much lower compared to the antigen.

      CasePreviousTesting: None

      GenotypingMethod: Patient have not been genotyped

      PreviouslyPublished: N/A

      Variant: N/A

      ClinVarID: N/A

      gnomAD: N/A

      **Gene: ** VWF Inheritance mode autosomal dominant variety with normal, high molecular weight multimers