ErkrankungThrombozytopenien + Thrombozytopathien, hereditäre; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Thrombozytopenien + Thrombozytopathien mit 25 bzw. zusammen genommen 59 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
TP5445
Anzahl Gene
51
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
16,9 kb (Core-/Basis-Gene)
103,2 kb (Erweitertes Panel)
103,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
GP1BA | 1959 | AD und/oder AR | |
GP1BB | 621 | AR | |
GP9 | 534 | AR | |
ITGA2B | 3120 | AD und/oder AR | |
ITGB3 | 2367 | AD und/oder AR | |
NBEAL2 | 8265 | AR | |
ABCG5 | 1956 | AR | |
ABCG8 | 2022 | AR | |
ACTB | 1128 | AD | |
ACTN1 | 2745 | AD | |
ACVRL1 | 1512 | AD und/oder Mult | |
ANKRD26 | 5133 | AD und/oder SMu | |
ANO6 | 2733 | AR | |
AP3B1 | 3138 | AR | |
ARPC1B | 1141 | AR | |
BLOC1S3 | 609 | AR | |
BLOC1S6 | 519 | AR | |
CDC42 | 576 | AD | |
CYCS | 318 | AD | |
DIAPH1 | 3819 | AD und/oder AR | |
DTNBP1 | 813 | AR | |
ETV6 | 1359 | Gen Fusion | |
FERMT3 | 1992 | AR | |
FLI1 | 1359 | AD und/oder AR | |
FYB1 | 2783 | AR | |
GATA1 | 1242 | XLR und/oder SMu | |
GFI1B | 993 | AD und/oder AR | |
GP6 | 1863 | AR | |
HOXA11 | 942 | AD | |
HPS1 | 2103 | AR | |
HPS3 | 3015 | AR | |
HPS4 | 2127 | AR | |
HPS5 | 3048 | AR | |
HPS6 | 2328 | AR | |
MECOM | 3351 | AD | |
MPIG6B | 910 | AR | |
MPL | 1908 | AD und/oder AR und/oder SMu | |
MYH9 | 5883 | AD | |
PLA2G4A | 2250 | AR | |
PLAU | 1245 | AD | |
PRKACG | 1056 | AR | |
RASGRP2 | 1830 | AR | |
RUNX1 | 1443 | AD und/oder Gen Fusion | |
SLFN14 | 2743 | AD | |
SRC | 1611 | AD | |
STIM1 | 2058 | AD und/oder AR | |
TBXA2R | 1032 | AD | |
THBD | 1728 | AD | |
THPO | 1062 | AD | |
TUBB1 | 1356 | AD | |
WAS | 1509 | XLR |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe heterogener Erkrankungen
Synonyme
- Allelic: Alzheimer disease, late-onset, susceptibility to (PLAU)
- Allelic: Anemia, XL, with/without neutropenia and/or platelet abnormalities (GATA1)
- Allelic: Cardiac valvular dysplasia, XL (FLNA)
- Allelic: Colon cancer, advanced, somatic (SRC)
- Allelic: Deafness, AD 17 (MYH9)
- Allelic: FG syndrome 2 (FLNA)
- Allelic: Frontometaphyseal dysplasia 1 (FLNA)
- Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 6 (THBD)
- Allelic: Heterotopia, periventricular, 1 (FLNA)
- Allelic: Leukemia, acute myeloid (RUNX1)
- Allelic: Leukemia, acute myeloid, somatic (ETV6)
- Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
- Allelic: Melnick-Needles syndrome (FLNA)
- Allelic: Metachondromatosis (PTPN11)
- Allelic: Myelofibrosis with myeloid metaplasia, somatic (MPL)
- Allelic: Myocardial infarction, susceptibility to (ITGB3)
- Allelic: Neutropenia, severe congenital, XL (WASP)
- Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
- Allelic: Otopalatodigital syndrome, type I (FLNA)
- Allelic: Otopalatodigital syndrome, type II (FLNA)
- Allelic: Purpura, posttransfusion (ITGB3)
- Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
- Allelic: Terminal osseous dysplasia (FLNA)
- Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
- Allelic: Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
- Allelic: Wiskott-Aldrich syndrome (WASP)
- Bernard-Soulier syndrome, type B (GP1BB)
- Bernard-Soulier syndrome, type C (GP9)
- Bernard-Soulier syndrome, types A1 [AR] + A2 [AD] (GP1BA)
- Bleeding disorder, platelet-type, 1 [Bernard-Soulier syndrome] (GP9, GP1BA, GP1BB)
- 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, 17 (GFI1B)
- Bleeding disorder, platelet-type, 18 (RASGRP)
- Bleeding disorder, platelet-type, 19 (PRKACG)
- Bleeding disorder, platelet-type, 20 (SLFN14)
- Bleeding disorder, platelet-type, 21 (FLI1)
- Bleeding disorder, platelet-type, 24, AD (ITGB3)
- Bleeding disorder, platelet-type, 7 [Scott syndrome] (ANO6)
- Bleeding disorder, platelet-type, 8 (P2RY12)
- Congenital short bowel syndrome (FLNA)
- Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
- Erythrokeratodermia variabilis et progressiva 4 (KDSR)
- Gastrointestinal ulceration, recurrent, with dysfunctional platelets (PLA2G4A)
- Ghosal hematodiaphyseal syndrome (TBXAS1)
- Giant platelet disorder, isolated (GP1BB)
- Glanzmann thrombasthenia (ITGA2B, ITGB3)
- Gray platelet syndrome (NBEAL2)
- Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
- Hemophagocytic lymphohistiocytosis, familial, 5, with/-out microvillus inclusion disease (STXBP2)
- Hermansky-Pudlak syndrome 1, 3, 4, 5, 6 (HPS1, HPS3, HPS4, HPS5, HPS6)
- Hermansky-Pudlak syndrome 10 (AP3D1)
- Hermansky-Pudlak syndrome 2 (AP3B1)
- Hermansky-Pudlak syndrome 7 (DTNBP1)
- Hermansky-Pudlak syndrome 8, 9 (BLOC1S3, BLOC1S6)
- Immunodeficiency 71 with inflammatory disease + congenital thrombocytopenia (ARPC1B)
- Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE)
- Intestinal pseudoobstruction, neuronal (FLNA)
- LEOPARD syndrome 1 (PTPN11)
- Leukocyte adhesion deficiency, type III (FERMT3)
- Macrothrombocytopenia + granulocyte incl. with/-out nephritis/sensorineural hearing loss (MYH9)
- Macrothrombocytopenia, AD, TUBB1-related (TUBB1)
- Noonan syndrome 1 (PTPN11)
- Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
- Purinergic receptor P2X, ligand-gated ion channel, 1 deficiency (P2RX1)
- Quebec platelet disorder (PLAU)
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (HOXA11)
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MECOM)
- Sitosterolemia 1 (ABCG8)
- Sitosterolemia 2 (ABCG5)
- Stormorken syndrome [YORK platelet syndrome] (STIM1)
- 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 (WASP)
- Thrombocytopenia, XL, intermittent (WASP)
- Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
- Thrombocytopenia, anemia + myelofibrosis (MPIG6B)
- Thrombocytopenia, congenital amegakaryocytic (MPL)
- Thrombocytopenia, neonatal alloimmune (ITGB3)
- Thrombocytopenia-absent radius syndrome (RBM8A)
- Thrombophilia due to thrombomodulin defect (THBD)
- Thrombotic thrombocytopenic purpura, hereditary (ADAMTS13)
- von Willebrand disease, platelet-type (GP1BA)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu
- AD und/oder Gen Fusion
- AD und/oder Mult
- AD und/oder SMu
- AR
- Gen Fusion
- XLR
- XLR und/oder SMu
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D69.4-
Bioinformatik und klinische Interpretation
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