©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPlasminogen-Aktivatorinhibitor 1-Defizienz; auch Differentialdiagnose


Short information

Comprehensive differential diagnostic panel for Plasminogen activator inhibitor 1 deficiency comprising 1 or altogether 14 curated genes according to the clinical signs

Number of genes
14 Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
36,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SERPINE11209NM_000602.5AD, AR
F13A12199NM_000129.4AD, AR
F21869NM_000506.5AD, AR
F56675NM_000130.5AD, AR
GP1BA1959NM_000173.7AD, AR
ITGA2B3120NM_000419.5AD, AR
ITGB32367NM_000212.3AD, AR
VWF8442NM_000552.5AR, AD

Informations about the disease

Clinical Comment

Hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency


  • Alias: Congenital PAI-1 deficiency
  • Alias: Hyperfibrinolysis due to PAI1 deficiency
  • Allelic: Budd-Chiari syndrome
  • Allelic: Myocardial infarction, protection against (F13A1)
  • Allelic: Myocardial infarction, susceptibility to (ITGB3)
  • Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 1 (F5)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 2 (F2)
  • Allelic: Purpura, posttransfusion (ITGB3)
  • Allelic: Stroke, ischemic, susceptibility to (F2)
  • Allelic: Stroke, ischemic, susceptibility to (F5)
  • Allelic: Thrombophilia, susceptibility to, due to factor V Leiden (F5)
  • Allelic: Transcription of plasminogen activator inhibitor, modulator of (SERPINE1)
  • Allelic: Venous thrombosis, protection against (F13A1)
  • Alpha-2-plasmin inhibitor deficiency (SERPINF2)
  • Bernard-Soulier syndrome, type A1, AR (GP1BA)
  • Bernard-Soulier syndrome, type A2, AD (GP1BA)
  • Bernard-Soulier syndrome, type B (GP1BB)
  • Bernard-Soulier syndrome, type C (GP9)
  • Bleeding disorder, platelet-type, 16, AD (ITGA2B)
  • Bleeding disorder, platelet-type, 16, AD (ITGB3)
  • Dysprothrombinemia (F2)
  • Factor V deficiency (F5)
  • Factor X deficiency (F10)
  • Factor XIIIA deficiency (F13A1)
  • Factor XIIIB deficiency (F13B)
  • Giant platelet disorder, isolated (GP1BB)
  • Glanzmann thrombasthenia (ITGA2B)
  • Glanzmann thrombasthenia (ITGB3)
  • Hypoprothrombinemia (F2)
  • Plasminogen activator inhibitor-1 deficiency (SERPINE1)
  • Scott syndrome; bleeding disorder, platelet-type, 7 (ANO6)
  • Thrombocytopenia, neonatal alloimmune (ITGB3)
  • Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
  • Thrombophilia due to activated protein C resistance (F5)
  • Thrombophilia due to thrombin defect (F2)
  • von Willebrand disease, platelet-type (GP1BA)
  • von Willebrand disease, type 1, 2A, 2B, 2M, 2N, 3 (VWF)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined