Erythrocytosis, Familial, 4; Ecyt4

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 ).

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.


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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
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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