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Chuvash Polycythemia: Diagnosis and Management
https://www.hematologyandoncology.net/archives/december-2011/chuvash-polycythemia-diagnosis-and-management/
WEBH&O What is Chuvash polycythemia? VG Chuvash polycythemia is an inherited condition that affects hundreds of people in the Chuvash Republic of the Russian Federation. It was recognized in the 1970s by the Russian hematologist, Lydia Andreevna Polyakova, who identified that the condition was different from polycythemia vera, that …
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Congenital disorder of oxygen sensing: association of the …
https://ashpublications.org/blood/article/103/10/3924/17668/Congenital-disorder-of-oxygen-sensing-association
WEBMay 15, 2004 · Chuvash polycythemia is a hypoxia-sensing disorder characterized by homozygous mutation (598C>T) of von Hippel-Lindau gene (VHL), a negative regulator of hypoxia sensing. Although endemic to the Chuvash population of Russia, this mutation occurs worldwide and originates from a single ancient event.
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Von Hippel-Lindau Disease (PDQ®) - NCI - National Cancer Institute
https://www.cancer.gov/types/kidney/hp/renal-cell-carcinoma-genetics/vhl-syndrome
WEBJan 4, 2024 · VHL -associated polycythemia (also known as familial erythrocytosis type 2 or Chuvash polycythemia) is a rare, autosomal recessive blood disorder caused by homozygous or compound heterozygous pathogenic variants in VHL in which affected individuals develop abnormally high numbers of red blood cells (polycythemia).
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About: Chuvash erythrocytosis - North Carolina State University
https://rarediseases.oscar.ncsu.edu/disease/chuvash-erythrocytosis/about/
WEBOrphanet. 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.
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Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia
https://www.nejm.org/doi/full/10.1056/NEJMc1600337
WEBFeb 29, 2024 · Chuvash polycythemia is a rare congenital polycythemia caused by a homozygous R200W (c.598C→T) germline mutation in the von Hippel–Lindau gene ( VHL ). 1,2 Patients with Chuvash polycythemia...
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NIH researchers find a potential treatment for disorders involving
https://www.nih.gov/news-events/news-releases/nih-researchers-find-potential-treatment-disorders-involving-excess-red-blood-cells
WEBFeb 26, 2018 · Researchers at the National Institutes of Health have cured mice with Chuvash polycythemia, a life-threatening disorder that involves the overproduction of red blood cells. They treated the mice using Tempol , an experimental drug being studied for treatment of diabetes, cancer and other diseases.
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Pharos : Disease Details - Chuvash polycythemia
https://pharos.nih.gov/diseases/Chuvash%20polycythemia
WEBChuvash 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 …
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Complications in children and adolescents with Chuvash polycythemia
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287647/
WEBJan 1, 2015 · In the Chuvash form of congenital polycythemia, 1 a homozygous germ-line VHLR200W mutation leads to impaired degradation of the α subunits of the hypoxia inducible transcription factors (HIF-1α and HIF-2α) and augmented hypoxic responses during normoxia including inappropriately elevated erythropoietin levels. 2 Mutated …
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Chuvash polycythemia - NIH Genetic Testing Registry (GTR) - NCBI
https://www.ncbi.nlm.nih.gov/gtr/conditions/C1837915/
WEBSummary. Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005).
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Orphanet: Chuvash erythrocytosis
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=238557
WEBDisease definition. 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.
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