Erythrocytosis, Familial, 4; Ecyt4

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Familial erythrocytosis-4 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration and elevated serum erythropoietin (EPO ).

Genes related to Erythrocytosis, Familial, 4; Ecyt4

EPAS1

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Clinical Features

Phenotypes and symptoms related to Erythrocytosis, Familial, 4; Ecyt4

Venous thrombosis
Polycythemia
Deep venous thrombosis
Increased hemoglobin
Increased hematocrit

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Erythrocytosis, Familial, 4; Ecyt4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EPAS1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). EPAS1 Specificity 100 % Genes 100 %
Erythrocytosis Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). BPGM, EGLN1, VHL, EPAS1, EPOR, HBA1, HBA2, HBB, JAK2 Specificity 12 % Genes 100 %
Hereditary Pheochromocytoma and Paraganglioma Panel. By Genetic Services Laboratory University of Chicago (United States). SDHA, SDHB, SDHC, SDHD, EGLN1, VHL, KIF1B, SDHAF2, TMEM127, EPAS1, MAX, MEN1, NF1, RET Specificity 8 % Genes 100 %
Erythrocytosis familial, 4 (sequence analysis of EPAS1 gene). By CGC Genetics (Portugal). EPAS1 Specificity 100 % Genes 100 %
Erythrocytosis, familial, 4. By Centogene AG - the Rare Disease Company (Germany). EPAS1 Specificity 100 % Genes 100 %
Erythrocytes, Anemia Panel. By CeGaT GmbH (Germany). RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, SEC23B, SPTA1, SPTB, EGLN1, LPIN2, AMN, COX4I2, CDAN1, CUBN, C15orf41, SH2B3 , (...) View the complete list with 13 more genes Panel complete gene list RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, SEC23B, SPTA1, SPTB, EGLN1, LPIN2, AMN, COX4I2, CDAN1, CUBN, C15orf41, SH2B3, EPAS1, EPB42, EPOR, G6PD, CBLIF, HBA1, HBA2, HBB, HBD, HFE, ANK1, KLF1, KIF23 Specificity 4 % Genes 100 %
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia. By BLOODGENETICS BLOODGENETICS (Spain). BPGM, EGLN1, VHL, SH2B3, EPAS1, EPOR, JAK2 Specificity 15 % Genes 100 %
Erythrocytosis, Familial: EPAS1 (HIF2A) gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain). EPAS1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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