English
ErkrankungPlasminogen-Aktivatorinhibitor 1-Defizienz, komplett; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Plasminogen-Aktivatorinhibitor 1-Defizienz mit 1 bzw. zusammen genommen 14 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP3645
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,3 kb (Core-/Basis-Gene)
36,7 kb (Erweitertes Panel)
36,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| SERPINE1 | 1209 | AD und/oder AR | |
| ANO6 | 2733 | AR | |
| F10 | 1467 | AR | |
| F13A1 | 2199 | AD und/oder AR | |
| F13B | 1986 | AR | |
| F2 | 1869 | AD und/oder AR und/oder Mult | |
| F5 | 6675 | AD und/oder AR und/oder Dig und/oder Mult | |
| GP1BA | 1959 | AD und/oder AR | |
| GP1BB | 621 | AR | |
| GP9 | 534 | AR | |
| ITGA2B | 3120 | AD und/oder AR | |
| ITGB3 | 2367 | AD und/oder AR | |
| SERPINF2 | 1476 | AR | |
| VWF | 8442 | AD und/oder AR |
Infos zur Erkrankung
Klinischer Kommentar
Hämorrhagische Erkrankung aufgrund eines konstitutionellen hämostatischen Faktordefekts, gekennzeichnet durch vorzeitige Lyse hämostatischer Gerinnsel + mäßige Blutungsneigung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Mult
- AD und/oder AR und/oder Mult
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D68.2-
Bioinformatik und klinische Interpretation
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