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Erythrocytosis, familial, 4

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Description

Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; 133170). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

129

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Genes

External Links

  • OMIM

    611783

  • Orphanet
  • HPO
  • Medgen

    C2673187

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