IllnessThrombozytopenien + Thrombozytopathien, hereditäre; Differentialdiagnose

NGS +

[Sanger]

Group of diseases

• Allelic: Alzheimer disease, late-onset, susceptibility to (PLAU)
• Allelic: Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to (TRPM7)
• 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: Erythrokeratodermia variabilis et progressiva 4 (KDSR)
• 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: Vesicoureteral reflux 8 (TNXB)
• 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)
• Dominant macrothrombocytopenia, mild bleeding, disrupted cytoskeleton remodeling [lit.] (TPM4)
• Ehlers-Danlos syndrome due to tenascin X deficiency [panelapp] (TNXB)
• Ehlers-Danlos syndrome, classic-like, 1 (TNXB)
• Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
• 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 [panelapp] (TRPM7)
• Macrothrombocytopenia, AD, TUBB1-related (TUBB1)
• Myopathy associated with thrombocytopenia [panelapp] (GNE)
• 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)
• Recessive severe thrombocytopenia with progression to marrow fibrosis at young age [panelapp] (KDSR)
• Significant bruising/haematomas [panelapp] (TNXB)
• 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)
• von Willebrand disease, type 1 (VWF)
• von Willebrand disease, type 3 (VWF)
• von Willebrand disease, types 2A, 2B, 2M + 2N (VWF)