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IllnessHemostasis disorders, inherited; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for inherited Hemostasis disorders containing >100 curated genes according to the clinical signs

ID
BP4491
Number of genes
102 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
232,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCG51956NM_022436.3AR
ABCG82022NM_022437.3AR
ACTB1128NM_001101.5AD
ACTN12745NM_001130004.2AD
ACVRL11512NM_000020.3AD
ADAMTS134284NM_139025.5AR
ANKRD265133NM_014915.3AD
ANO62733NM_001025356.3AR
AP3B13138NM_001271769.2AR
AP3D13648NM_001261826.3AR
ARPC1B1141NM_005720.4AR
BLOC1S3609NM_212550.5AR
BLOC1S6519NM_012388.4AR
CDC42576NM_001791.4AD
CHST141131NM_130468.4AR
COL1A14395NM_000088.4AD
COL5A15517NM_000093.5AD
COL5A24500NM_000393.5AD
CYCS318NM_018947.6AD
DIAPH13819NM_005219.5AD
DTNBP1813NM_001271667.2AR
ENG1878NM_000118.3AD
ETV61359NM_001987.5Gen Fusion
F101467NM_000504.4AR
F111878NM_000128.4AD, AR
F121848NM_000505.4AD, AR
F13A12199NM_000129.4AD, AR
F13B1986NM_001994.3AR, AD
F21869NM_000506.5AD, AR
F56675NM_000130.5AD, AR
F71401NM_000131.4AR
F87056NM_000132.4XLR
F91386NM_000133.4XL
FERMT31992NM_031471.6AR
FGA1935NM_021871.4AD, AR
FGB1299NM_001184741.1AD, AR
FGG1314NM_000509.6AR, AD
FLI11359NM_002017.5AD, AR
FLNA7920NM_001456.4XL
FYB12783NM_001243093.2AR
GATA11242NM_002049.4XLR
GBA11611NM_001005741.3AR
GFI1B993NM_004188.8AD, AR
GGCX2277NM_000821.7AR
GNE2262NM_001128227.3AR
GP1BA1959NM_000173.7AD, AR
GP1BB621NM_000407.5AR, AD
GP61863NM_001083899.2AR
GP9534NM_000174.5AR
HOXA11942NM_005523.6AD
HPS12103NM_000195.5AR
HPS33015NM_032383.5AR
HPS42127NM_022081.6AR
HPS53048NM_007216.4AR
HPS62328NM_024747.6AR
HRG1578NM_000412.5AD
IKZF51263NM_001271840.1AD
ITGA2B3120NM_000419.5AD, AR
ITGB32367NM_000212.3AD, AR
KDSR999NM_002035.4AR
KLKB11917NM_000892.5AR
KNG11935NM_001102416.3AR
LMAN11533NM_005570.4AR
LYST11406NM_000081.4AR
MCFD2441NM_001171506.2AR
MECOM3351NM_001105077.4AD
MPIG6B910NM_025260.4AR
MPL1908NM_005373.3AR, AD
MYH95883NM_002473.6AD
NBEA2220NM_015678.5AD
NBEAL28265NM_015175.3AR
ORAI1912NM_032790.3AD
PLA2G4A2250NM_024420.3AR
PLAT1689NM_000930.5AD
PLAU1245NM_001145031.3AD
PLG2433NM_000301.5AR
PROC1386NM_000312.4AD, AR
PROS12031NM_000313.4AR, AD
PTPN111782NM_002834.5AD
PTPRJ1620NM_001098503.2SMu
RASGRP21830NM_153819.1AR
RNU4ATAC130NR_023343.1AR
RUNX11443NM_001754.5AD
SERPINC11395NM_000488.4AD, AR
SERPINE11209NM_000602.5AD, AR
SERPINF21476NM_000934.4AR
SLC35A1837NM_001168398.2AR
SLC45A21593NM_016180.5AR
SLFN142743NM_001129820.2AD
SMAD41659NM_005359.6AD
SRC1611NM_005417.5AD
STIM12058NM_003156.4AD
STXBP21773NM_006949.4AR
TBXA2R1032NM_001060.6AD
TBXAS11602NM_001061.7AR
THBD1728NM_000361.3AD
THPO1062NM_000460.4AD
TUBB11356NM_030773.4AD
VIPAS391482NM_022067.4AR
VPS33B1854NM_018668.5AR
VWF8442NM_000552.5AR, AD
WAS1509NM_000377.3XLR

Informations about the disease

Clinical Comment

Hemostasis results in the cessation of bleeding from a blood vessel and involves several interrelated steps that result in the formation of a plug. First, the blood vessel constricts and a temporary platelet plug forms. Then, the coagulation cascade is activated (via extrinsic and intrinsic pathways), and a definitive plug forms that is eventually physiologically dissolved (tertiary homeostasis). Hyper-coagulation can lead to thrombosis (as in Factor V Leiden mutation, protein C and S deficiencies and prothrombin gene mutations etc.), whereas hypo-coagulation prevents effective control of hemorrhage (as in Von Willebrand disease, hemophilia, disseminated intravascular coagulation, coagulation factor deficiency and platelet disorders etc.). Under normal circumstances, a finely regulated balance exists between the procoagulant and the anticoagulant signaling pathways. Several cellular components associated with the endothelium, platelets and hepatocytes are involved in the coagulation process. Major etiologies of hemostasis disorders include trauma and drugs, but also numerous genetic causes are involved that are highly diverse. Therefore, a particularly comprehensive gene panel is required to clarify the genetic basis. A negative DNA test result cannot exclude a clinical diagnosis of an inherited hemostasis disorder, even when >100 genes are considered.

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

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Gen Fusion
  • SMu
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined