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ErkrankungHämostase-Störungen, erblich; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Hämostase-Störungen (erblich) mit >100 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
BP4491
Anzahl Gene
102 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
232,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABCG51956AR
ABCG82022AR
ACTB1128AD
ACTN12745AD
ACVRL11512AD und/oder Mult
ADAMTS134284AR
ANKRD265133AD und/oder SMu
ANO62733AR
AP3B13138AR
AP3D13648AR
ARPC1B1141AR
BLOC1S3609AR
BLOC1S6519AR
CDC42576AD
CHST141131AR
COL1A14395AD
COL5A15517AD
COL5A24500AD
CYCS318AD
DIAPH13819AD und/oder AR
DTNBP1813AR
ENG1878AD und/oder Mult
ETV61359Gen Fusion
F101467AR
F111878AD und/oder AR
F121848AD und/oder AR
F13A12199AD und/oder AR
F13B1986AR
F21869AD und/oder AR und/oder Mult
F56675AD und/oder AR und/oder Dig und/oder Mult
F71401AR
F87056XLR und/oder Sus
F91386XL
FERMT31992AR
FGA1935AD und/oder AR
FGB1299AR
FGG1314AR
FLI11359AD und/oder AR
FLNA7920XL
FYB12783AR
GATA11242XLR und/oder SMu
GBA1611AD und/oder AR und/oder Sus
GFI1B993AD und/oder AR
GGCX2277AR
GNE2262AD und/oder AR
GP1BA1959AD und/oder AR
GP1BB621AR
GP61863AR
GP9534AR
HOXA11942AD
HPS12103AR
HPS33015AR
HPS42127AR
HPS53048AR
HPS62328AR
HRG1578AD
IKZF51263AD
ITGA2B3120AD und/oder AR
ITGB32367AD und/oder AR
KDSR999AR
KLKB11917AR
KNG11935AR
LMAN11533AR
LYST11406AR
MCFD2441AR
MECOM3351AD
MPIG6B910AR
MPL1908AD und/oder AR und/oder SMu
MYH95883AD
NBEA2220AD
NBEAL28265AR
ORAI1912AD und/oder AR
PLA2G4A2250AR
PLAT1689AD und/oder AR
PLAU1245AD
PLG2433AR
PROC1386AD und/oder AR
PROS12031AD und/oder AR
PTPN111782AD und/oder SMu
PTPRJ1620SMu
RASGRP21830AR
RNU4ATAC130AR
RUNX11443AD und/oder Gen Fusion
SERPINC11395AD und/oder AR
SERPINE11209AD und/oder AR
SERPINF21476AR
SLC35A1837AR
SLC45A21593AR und/oder Dig
SLFN142743AD
SMAD41659AD und/oder SMu und/oder Sus
SRC1611AD
STIM12058AD und/oder AR
STXBP21773AR
TBXA2R1032AD
TBXAS11602AD und/oder AR
THBD1728AD
THPO1062AD
TUBB11356AD
VIPAS391482AR
VPS33B1854AR
VWF8442AD und/oder AR
WAS1509XLR

Infos zur Erkrankung

Klinischer Kommentar

Die Blutstillung führt zur Beendigung der Blutung aus einem Blutgefäß und umfasst mehrere miteinander verknüpfte Schritte, die in die Bildung eines Pfropfes münden. Zunächst verengt sich das Blutgefäß und es bildet sich ein vorübergehender Plättchen-Pfropf. Dann wird die Gerinnungskaskade aktiviert (via extrinsischen und intrinsischen Weg), und es bildet sich ein endgültiger Pfropf, der schließlich physiologisch wieder aufgelöst wird (tertiäre Homöostase). Hyper-Koagulation kann zu einer Thrombose führen (wie bei der Faktor-V-Leiden-Mutation, dem Mangel an Protein C und S sowie der Mutationen im Prothrombin-Gen etc.), während Hypo-Koagulation eine wirksame Kontrolle der Blutung verhindert (wie bei der Von-Willebrand-Krankheit, der Hämophilie, der disseminierten intravasalen Gerinnung, dem Mangel an Gerinnungsfaktoren und den Thrombozyten-Störungen etc.). Unter normalen Umständen besteht ein fein reguliertes Gleichgewicht zwischen dem Gerinnungs-fördernden und dem Gerinnungs-hemmenden Signalweg. Am Gerinnungs-Prozess sind verschiedene zelluläre Komponenten beteiligt, die mit dem Endothel, den Blutplättchen und den Hepatozyten in Verbindung stehen. Zu den wichtigsten Ätiologien von Hämostase-Störungen gehören Traumata und Medikamente, aber auch zahlreiche genetische Ursachen, die sehr vielgestaltig sind. Daher ist ein besonders umfassendes Gen-panel für die Abklärung der genetischen Grundlagen erforderlich. Ein negatives DNA-Testergebnis kann die klinische Diagnose vererbte Hämostase-Störung nicht ausschließen, selbst wenn >100 Gene berücksichtigt werden.

Referenzen: https://search.clinicalgenome.org/kb/affiliate/10028?page=1&size=250&search=

 

Synonyme
  • Alias: Inherited bleeding + platelet disorders
  • Alias: Monogenic venous thrombosis, included
  • Allelic: Albinism, oculocutaneous, type IV (SLC45A2)
  • Allelic: Alzheimer disease, late-onset, susceptibility to (PLAU)
  • Allelic: Amyloidosis, familial visceral (FGA)
  • Allelic: Angioedema, hereditary, type III (F12)
  • Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
  • Allelic: Colon cancer, advanced, somatic (SRC)
  • Allelic: Colon cancer, somatic (PTPRJ)
  • Allelic: Deafness, AD 17 (MYH9)
  • Allelic: Dystonia, juvenile-onset (ACTB)
  • Allelic: Gallbladder disease 4 (ABCG8)
  • Allelic: LEOPARD syndrome 1 (PTPN11)
  • Allelic: Leukemia, acute myeloid (RUNX1)
  • Allelic: Leukemia, acute myeloid, somatic (ETV6)
  • Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Lowry-Wood syndrome (RNU4ATAC)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
  • Allelic: Myhre syndrome (SMAD4)
  • Allelic: Myocardial infarction, decreased susceptibility to (F7)
  • Allelic: Myocardial infarction, protection against (F13A1)
  • Allelic: Myocardial infarction, susceptibility to (ITGB3)
  • Allelic: Myopathy, tubular aggregate, 1 (STIM1)
  • Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
  • Allelic: Neurodevelopmental disorder with/-out early-onset generalized epilepsy (NBEA)
  • Allelic: Neutropenia, severe congenital, XL (WAS)
  • Allelic: Nonaka myopathy (GNE)
  • Allelic: Osteogenesis imperfecta, type I-IV
  • Allelic: Pancreatic cancer, somatic (SMAD4)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Polyposis, juvenile intestinal (SMAD4)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 1 (F5)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 2 (F2)
  • Allelic: Roifman syndrome (RNU4ATAC)
  • Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
  • Allelic: Skin/hair/eye pigment. 5, black/nonblack hair; dark/fair skin; dark/light eyes (SLC45A2)
  • Allelic: Transcription of plasminogen activator inhibitor, modulator of (SERPINE1)
  • Afibrinogenemia, congenital (FGA, FGB, FGG)
  • Alpha-2-plasmin inhibitor deficiency (SERPINF1)
  • Alpha-2-plasmin inhibitor deficiency (SERPINF2)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Arthrogryposis, renal dysfunction, and cholestasis 1 (VPS33B)
  • Arthrogryposis, renal dysfunction, cholestasis 2 (VIPAS39)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Bernard-Soulier syndrome, type A1 (recessive] (GP1BA)
  • Bernard-Soulier syndrome, type A2 [dominant] (GP1BA)
  • Bernard-Soulier syndrome, type B (GP1BB)
  • Bernard-Soulier syndrome, type C (GP9)
  • Bleeding defect due to defective platelet function (RAP1B)
  • Bleeding disorder, platelet-type, 11 (GP6)
  • Bleeding disorder, platelet-type, 12 (PTGS1)
  • Bleeding disorder, platelet-type, 13, susceptibility to (TBXA2R)
  • Bleeding disorder, platelet-type, 15 (ACTN1)
  • Bleeding disorder, platelet-type, 16, AD (ITGA2B)
  • Bleeding disorder, platelet-type, 16, AD (ITGB3)
  • Bleeding disorder, platelet-type, 17 (GFI1B)
  • Bleeding disorder, platelet-type, 18 (RASGRP2)
  • Bleeding disorder, platelet-type, 20 (SLFN14)
  • Bleeding disorder, platelet-type, 21 (FLI1)
  • Bleeding disorder, platelet-type, 8 (P2RY12)
  • Budd-Chiari syndrome (F5)
  • Caffey disease (COL1A1)
  • Chediak-Higashi syndrome )LYST)
  • Combined factor V + VIII deficiency (LMAN1)
  • Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
  • Congenital disorder of glycosylation, type IIf (SLC35A1)
  • Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
  • Deep venous thrombosis, protection against (F9)
  • Dysfibrinogenemia, congenital (FGA, FGB, FGG)
  • Dysplasminogenemia (PLG)
  • Dysprothrombinemia (F2)
  • Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Ehlers-Danlos syndrome, classic type, 1 (COL5A1)
  • Ehlers-Danlos syndrome, classic type, 2 (COL5A2)
  • Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
  • Erythrokeratodermia variabilis et progressiva 4 (KDSR)
  • Factor V + factor VIII, combined deficiency of (MCFD2)
  • Factor V deficiency (F5)
  • Factor VII deficiency (F7)
  • Factor X deficiency (F10)
  • Factor XI deficiency, AD + AR (F11)
  • Factor XII deficiency (F12)
  • Factor XIIIA deficiency (F13A1)
  • Factor XIIIB deficiency (F13B)
  • Fletcher factor (prekallikrein) deficiency (KLKB1)
  • Gastrointestinal ulceration, recurrent, with dysfunctional platelets (PLA2G4A)
  • Gaucher disease, perinatal lethal (GBA)
  • Gaucher disease, type I-III, IIIC (GBA)
  • Ghosal hematodiaphyseal syndrome (TBXAS1)
  • Giant platelet disorder, isolated (GP1BB)
  • Glanzmann thrombasthenia (ITGA2B)
  • Glanzmann thrombasthenia (ITGB3)
  • Gray platelet syndrome (NBEAL2)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 6 (THBD)
  • Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Hermansky-Pudlak syndrome 1 (HPS1)
  • Hermansky-Pudlak syndrome 10 (AP3D1)
  • Hermansky-Pudlak syndrome 2 (AP3B1)
  • Hermansky-Pudlak syndrome 3 (HPS3)
  • Hermansky-Pudlak syndrome 6 (HPS6)
  • Hermansky-Pudlak syndrome 7 (DTNBP1)
  • Hermansky-Pudlak syndrome 8 (BLOC1S3)
  • Hermansky-Pudlak syndrome 9 (BLOC1S6)
  • High molecular weight kininogen deficiency (KNG1)
  • Hyperfibrinolysis, familial, due to increased release of PLAT (PLAT)
  • Hypodysfibrinogenemia, congenital (FGA)
  • Hypofibrinogenemia, congenital (FGB, FGG)
  • Hypoprothrombinemia (F2)
  • Immunodeficiency 10 (STIM1)
  • Immunodeficiency 71 with inflammatory disease + congenital thrombocytopenia (ARPPC1B)
  • Immunodeficiency 9 (ORAI1)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Kininogen deficiency (KNG1)
  • Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Leukocyte adhesion deficiency, type III (FERMT3)
  • Macrothrombocytopenia, AD, TUBB1-related (TUBB1)
  • Macrothrombocytopenia, granulocyte inclusions with/-out nephritis/sensorin. hearing loss (MYH9)
  • Multidrug resistance-associated protein 4 (ABCC4)
  • Myelofibrosis with myeloid metaplasia, somatic (MPL)
  • Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
  • Noonan syndrome 1 (PTPN11)
  • Plasminogen activator inhibitor-1 deficiency (SERPINE1)
  • Plasminogen deficiency, type I (PLG)
  • Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
  • Platelet disorder, macrothrombocytopenia [panelapp] (TPM4)
  • Platelet prostaglandin-endoperoxidase synthase-1 deficiency (PTGS1)
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
  • Purpura, posttransfusion (ITGB3)
  • Quebec platelet disorder (PLAU)
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (HOXA11)
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MECOM)
  • Scott syndrome (ANO6)
  • Sialuria (GNE)
  • Sitosterolemia 1 (ABCG8)
  • Sitosterolemia 2 (ABCG5)
  • Stormorken syndrome (STIM1)
  • Stroke, ischemic, susceptibility to (F2)
  • Stroke, ischemic, susceptibility to (F5)
  • Takenouchi-Kosaki syndrome (CDC42)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • Thrombocythemia 1 (THPO)
  • Thrombocythemia 2 (MPL)
  • Thrombocytopenia 2 (ANKRD26)
  • Thrombocytopenia 3 (FYB1)
  • Thrombocytopenia 4 (CYCS)
  • Thrombocytopenia 5 (ETV6)
  • Thrombocytopenia 6 (SRC)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, AD, 7 (IKZF5)
  • Thrombocytopenia, XL (WAS)
  • Thrombocytopenia, XL, intermittent (WAS)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Thrombocytopenia, anemia + myelofibrosis (MPIG6B)
  • Thrombocytopenia, congenital amegakaryocytic (MPL)
  • Thrombocytopenia, neonatal alloimmune (ITGB3)
  • Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
  • Thrombocytopenia-absent radius syndrome (RBM8A)
  • Thrombophilia due to HRG deficiency (HRG)
  • Thrombophilia due to activated protein C resistance (F5)
  • Thrombophilia due to antithrombin III deficiency (SERPINC1)
  • Thrombophilia due to heparin cofactor II deficiency (SERPIND1)
  • Thrombophilia due to protein C deficiency, AD (PROC)
  • Thrombophilia due to protein C deficiency, AR (PROC)
  • Thrombophilia due to protein S deficiency, AD (PROS1)
  • Thrombophilia due to protein S deficiency, AR (PROS1)
  • Thrombophilia due to thrombin defect (F2)
  • Thrombophilia due to thrombomodulin defect (THBD)
  • Thrombophilia, XL, due to factor IX defect (F9)
  • Thrombophilia, familial, due to decreased release of PLAT (PLAT)
  • Thrombophilia, susceptibility to, due to factor V Leiden (F5)
  • Thrombotic thrombocytopenic purpura, hereditary (ADAMTS13)
  • Venous thrombosis, protection against (F13A1)
  • Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
  • Vitamin K-dependent clotting factors, combined deficiency of, 2 (VKORC1)
  • Warfarin resistance (VKORC1)
  • Warfarin sensitivity (F9)
  • Wiskott-Aldrich syndrome (WAS)
  • von Willebrand disease, platelet-type (GP1BA)
  • von Willebrand disease, types 1, 2A, 2B, 2M, 2N, 3 (VWF)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Mult
  • AD und/oder AR und/oder Mult
  • AD und/oder AR und/oder SMu
  • AD und/oder AR und/oder Sus
  • AD und/oder Gen Fusion
  • AD und/oder Mult
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AR
  • AR und/oder Dig
  • Gen Fusion
  • SMu
  • XL
  • XLR
  • XLR und/oder SMu
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D68.8

Bioinformatik und klinische Interpretation

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