Klinische FragestellungThrombozytenfunktions-Störungen/Thrombozytopathien

NGS +

Gruppe von Krankheiten ohne spezielle ORPHA#; panel umfasst

Leukozytenadhäsionsmangel Typ III ORPHA:99844

AD Makrothrombozytopenie ORPHA:140957

Glanzmann-Thrombasthenie ORPHA:849

Fetale und neonatale Alloimmun-Thrombozytopenie ORPHA:853

• Allelic: Alzheimer disease, late-onset, susceptibility to (PLAU)
• Allelic: Arthrogryposis, renal dysfunction, and cholestasis 1 (VPS§§B)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Cholestasis, progressive familial intrahepatic, 12 (VPS§§B)
• Allelic: Deafness, AD 17 (MYH9)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Gallbladder disease 4 (ABCG8)
• Allelic: Giant platelet disorder, isolated (GP1BB)
• Allelic: Hemolytic anemia due to elevated adenosine deaminase (GATA1)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Immunodeficiency 10 (STIM1)
• Allelic: Keratoderma-ichthyosis-deafness syndrome, AR (VPS§§B)
• Allelic: Leukemia, acute myeloid (GP1BA)
• Allelic: Leukemia, acute myeloid (RUNX1)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Myopathy, tubular aggregate, 1 (STIM1)
• Allelic: Neutropenia, severe congenital, XL (WAS)
• 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: Sialuria (GNE)
• Allelic: Terminal osseous dysplasia (FLNA)
• Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
• Allelic: Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
• Anemia, XL, +/- neutropenia and/or platelet abnormalities (GATA1)
• Arthrogryposis, renal dysfunction, cholestasis 2 (VIPAS39)
• Baraitser-Winter syndrome 1 (ACTB)
• Bernard-Soulier syndrome, type A1, AR + A2, AD (GP1BA)
• Bernard-Soulier syndrome, type B (GP1BB)
• Bernard-Soulier syndrome, type C (GP9)
• Bleeding disorder, platelet-type, 11 (GP6)
• Bleeding disorder, platelet-type, 12 [panelapp/OMIM] (PTGS1)
• Bleeding disorder, platelet-type, 13, susceptibility to TBXA2R)
• Bleeding disorder, platelet-type, 15 (ACTN1)
• Bleeding disorder, platelet-type, 16, AD (ITGA2B, ITGA3)
• Bleeding disorder, platelet-type, 17 (GFI1B)
• Bleeding disorder, platelet-type, 18 (RASGRP2)
• Bleeding disorder, platelet-type, 19 PRKACG)
• Bleeding disorder, platelet-type, 20 (SLFN14)
• Bleeding disorder, platelet-type, 21 (FLI1)
• Bleeding disorder, platelet-type, 8 (P2RY12)
• Chediak-Higashi syndrome (LYST)
• Congenital short bowel syndrome (FLNA)
• Deafness, AD 1, +/- thrombocytopenia (DIAPH1)
• Dystonia, juvenile-onset (ACTB)
• Erythrokeratodermia variabilis et progressiva 4 (KDSR)
• Gastrointestinal ulceration, recurrent, with dysfunctional platelets (PLA2G4A)
• Ghosal hematodiaphyseal syndrome (TBXAS1)
• Glanzmann thrombasthenia (ITGA2B, ITGA3)
• Gray-platelet syndrome (NBEAL2)
• Hemophagocytic lymphohistiocytosis, familial, 5, +/- 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 7 (DTNBP1)
• Hermansky-Pudlak syndrome 8 (BLOC1S3)
• Hermansky-Pudlak syndrome 9 (BLOC1S6)
• Immunodeficiency 71 with inflammatory disease + congenital thrombocytopenia (ARPC1B)
• Intestinal pseudoobstruction, neuronal (FLNA)
• Leukocyte adhesion deficiency type III (FERMT3)
• Macrothrombocytopenia + granulocyte inclusions +/- nephritis or sensorineural hearing loss (MYH9)
• Macrothrombocytopenia, isolated, 1, AD (TUBB1)
• Nonaka myopathy (GNE)
• Platelet disorder, familial, with associated myeloid malignancy (GP1BA)
• Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
• Quebec platelet disorder (PLAU)
• Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MECOM)
• Scott syndrome (ANO6)
• Sitosterolemia 1 (ABCG8)
• Sitosterolemia 2 (ABCG5)
• Stormorken syndrome (STIM1)
• Takenouchi-Kosaki syndrome (CDC42)
• 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, XL (WAS)
• Thrombocytopenia, XL, +/- dyserythropoietic anemia (GATA1)
• Thrombocytopenia, XL, intermittent (WAS)
• Thrombocytopenia, anemia + myelofibrosis (MPIG6B)
• Thrombocytopenia, congenital amegakaryocytic (MPL)
• Thrombocytopenia-absent radius syndrome (RBM8A)
• Wiskott-Aldrich syndrome (WAS)
• von Willebrand disease, platelet-type (GP1BA)