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GTR Home > Conditions/Phenotypes > Primary familial polycythemia due to EPO receptor mutation

Primary familial polycythemia due to EPO receptor mutation

Synonyms
ERYTHROCYTOSIS, SOMATIC; Erythrocytosis autosomal dominant benign; Familial erythrocytosis, 1; Polycythemia, primary familial and congenital; Primary Familial Congenital Polycythemia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Primary Familial and Congenital Polycythemia
Primary familial and congenital polycythemia (PFCP) is characterized by isolated erythrocytosis in an individual with a normal-sized spleen and absence of disorders causing secondary erythrocytosis. Clinical manifestations relate to the erythrocytosis and can include plethora, the hyperviscosity syndrome (headache, dizziness, fatigue, lassitude, visual and auditory disturbances, paresthesia, myalgia), altered mental status caused by hypoperfusion and local hypoxia, and arterial and/or venous thromboembolic events. Although the majority of individuals with PFCP have only mild manifestations of hyperviscosity such as dizziness or headache, some affected individuals have had severe and even fatal complications including arterial hypertension, intracerebral hemorrhage, deep vein thrombosis, coronary disease, and myocardial infarction. To date 116 affected individuals from 24 families have been reported.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Celeste Bento
Mary Frances McMullin
Melanie Percy
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Available tests

37 tests are in the database for this condition.

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Clinical tests (37 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPO-R, EPOR
    Summary: erythropoietin receptor

  • Also known as: JTK10, JAK2
    Summary: Janus kinase 2

  • Also known as: IDDM20, LNK, SH2B3
    Summary: SH2B adaptor protein 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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