Erythropoietin Polycythemia
Polycythemia that is caused by excess erythropoietin.
Más néven
polycythaemia due to Excess erythropoetin production; polycythemia due to excess erythopoetin production
Condition report · Hematological
Familial Polycythemia
A condition characterized by an abnormally high concentration of red blood cells in the blood, leading to increased blood viscosity and potentially various health complications.
A condition report looks for rare variants known to cause the conditions it covers.
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A vizsgált 8 betegség
- Erythropoietin Polycythemia
- Primary Familial Polycythemia Due To Epo Receptor Mutation
- Chuvash Polycythemia
- Familial Erythrocytosis 3 (EGLN1)
- Familial Erythrocytosis 4 (EPAS1)
- Familial Erythrocytosis 5 (EPO)
- Familial Erythrocytosis 6 (High-Oxygen-Affinity Haemoglobin, HBB)
- Familial Erythrocytosis 7 (High-Oxygen-Affinity Haemoglobin, HBA1/HBA2)
Primary Familial Polycythemia Due To Epo Receptor Mutation
Autoszomális domináns
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
Vizsgált gének
Más néven
congenital erythrocytosis due to erythropoietin receptor mutation; congenital polycythemia due to erythropoietin receptor mutation; ECYT1; EPOR familial polycythemia; erythrocytosis autosomal dominant benign; erythrocytosis, familial, 1; erythrocytosis, familial, type 1; erythrocytosis, somatic; familial erythrocytosis; familial erythrocytosis type 1; familial erythrocytosis, 1; familial polycythemia caused by mutation in EPOR; PFCP; primary congenital erythrocytosis; primary familial and congenital polycythemia
Chuvash Polycythemia
Autoszomális recesszív
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
Vizsgált gének
Más néven
ECYT2; erythrocytosis, familial, 2; erythrocytosis, familial, type 2; familial polycythemia caused by mutation in VHL; VHL familial polycythemia; Von Hippel-Lindau-dependent polycythemia
Familial Erythrocytosis 3 (EGLN1)
Autoszomális domináns
A dominant form of inherited erythrocytosis caused by changes in EGLN1 that disturb the body's oxygen-sensing pathway and increase red cell production.
Mit változtat a diagnózis
Knowing the inherited cause avoids it being mistaken for polycythaemia vera or other acquired causes, and spares unnecessary investigations.
Vizsgált gének
Más néven
ECYT3; EGLN1 familial polycythemia; erythrocytosis, familial, type 3; familial polycythemia caused by mutation in EGLN1
Familial Erythrocytosis 4 (EPAS1)
Autoszomális domináns
A dominant form of inherited erythrocytosis caused by gain-of-function changes in EPAS1 (HIF-2 alpha) that increase red cell production.
Mit változtat a diagnózis
Knowing the inherited cause avoids it being mistaken for polycythaemia vera or other acquired causes, and spares unnecessary investigations.
Vizsgált gének
Más néven
ECYT4; EPAS1 familial polycythemia; erythrocytosis, familial, type 4; familial polycythemia caused by mutation in EPAS1
Familial Erythrocytosis 5 (EPO)
Autoszomális domináns
A dominant form of inherited erythrocytosis caused by changes in the EPO gene that increase production of the hormone erythropoietin.
Mit változtat a diagnózis
Knowing the inherited cause avoids it being mistaken for polycythaemia vera or other acquired causes, and spares unnecessary investigations.
Vizsgált gének
Más néven
ECYT5; EPO familial polycythemia; familial polycythemia caused by mutation in EPO
Familial Erythrocytosis 6 (High-Oxygen-Affinity Haemoglobin, HBB)
Autoszomális domináns
A dominant form of inherited erythrocytosis caused by beta-globin variants that make haemoglobin hold on to oxygen too tightly, so the body makes more red cells to compensate.
Mit változtat a diagnózis
Knowing the inherited cause avoids it being mistaken for polycythaemia vera or other acquired causes, and spares unnecessary investigations.
Vizsgált gének
Más néven
ECYT6; erythrocytosis 6
Familial Erythrocytosis 7 (High-Oxygen-Affinity Haemoglobin, HBA1/HBA2)
Autoszomális domináns
A dominant form of inherited erythrocytosis caused by alpha-globin variants that make haemoglobin hold on to oxygen too tightly, so the body makes more red cells to compensate.
Mit változtat a diagnózis
Knowing the inherited cause avoids it being mistaken for polycythaemia vera or other acquired causes, and spares unnecessary investigations.
Más néven
ECYT7; erythrocytosis 7
További hematological conditions
- Congenital AfibrinogenemiaFGA, FGB, FGG
- Congenital Dyserythropoietic AnaemiasCDAN1, CDIN1, KLF1, SEC23B
- Congenital Thrombotic Thrombocytopenic PurpuraADAMTS13
- Diamond-Blackfan AnemiaGATA1, HEATR3, RPL11, RPL15
- Fanconi AnemiaBRCA1, BRCA2, BRIP1, ERCC4
- G6PD DeficiencyG6PD
- HaemophiliaF11, F8, F9
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsCYB5A, CYB5R3, HBA1, HBA2
- Hereditary Sideroblastic AnaemiasABCB7, ALAS2, GLRX5, HSPA9
- Hereditary SpherocytosisANK1, EPB42, SLC4A1, SLC4A2
- Hereditary Von Willebrand DiseaseGP1BA, VWF
- Inherited Fibrinolytic DisordersPLAU, PLG, SERPINE1, SERPINF2
- Inherited Iron Metabolism DisordersCP, SLC11A2, TF, TMPRSS6
- Inherited Platelet Function DisordersGP1BA, GP1BB, GP6, GP9
- Inherited ThrombocytopeniasACTB, ACTN1, ADAMTS13, ANKRD26
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersAK1, GCLC, GPI, GSR
- Rare Inherited Bone Marrow Failure SyndromesADH5, DNAJC21, ERCC6L2, MECOM
- Rare Inherited Coagulation Factor DeficienciesF10, F13A1, F13B, F2
- Rare Inherited Megaloblastic AnaemiasDHFR, UMPS
- Red Blood Cell Membrane DisordersEPB41, KCNN4, PIEZO1, RHAG
- Severe Congenital NeutropeniaCLPB, CSF3R, CXCR2, CXCR4
- Shwachman-Diamond SyndromeEFL1, SBDS
- Sickle Cell DiseaseHBB
- ThalassaemiaHBA1, HBA2, HBB, HBG1
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