Erythrocytosis, Familial, 1 (ECYT1)

Alias:

Primary Familial and Congenital Polycythemia

Ecyt1

Pfcp

Familial Erythrocytosis

Congenital Erythrocytosis Due to Erythropoietin Receptor Mutation

Congenital Polycythemia Due to Erythropoietin Receptor Mutation

Autosomal Dominant Benign Erythrocytosis

Primary Congenital Erythrocytosis

Primary Familial Polycythemia

Familial Erythrocytosis 1

Primary Familial Polycythemia Due to Epo Receptor Mutation

Polycythemia, Primary Familial and Congenital

Erythrocytosis, Autosomal Dominant Benign

Erythrocytosis, Familial, Type 1

Familial Erythrocytosis Type 1

Familial Primary Polycythemia

Erythrocytosis, Somatic

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Erythrocytosis, Familial, 1, also known as primary familial and congenital polycythemia, is related to erythrocytosis, familial, 7 and erythrocytosis, familial, 8, and has symptoms including dizziness, fatigue and headache. An important gene associated with Erythrocytosis, Familial, 1 is EPOR (Erythropoietin Receptor), and among its related pathways/superpathways are Signal Transduction and TGF-Beta Pathway. The drugs Immunologic Factors and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include spleen and heart, and related phenotypes are fatigue and abnormal hemoglobin

Related ID：

MALACARDS：ERY058

OMIM：133100

MESH：D011086