Erythrocytosis, Familial, 2 (ECYT2)

Alias:
Chuvash Polycythemia
Ecyt2
Autosomal Recessive Benign Erythrocytosis
Familial Erythrocytosis 2
Von Hippel-Lindau-Dependent Polycythemia
Erythrocytosis, Familial, Type 2
Polycythemia, Vhl-Dependent
Vhl-Dependent Polycythemia
Chuvash Type Polycythemia
Polycythemia Chuvash Type
Chuvash Erythromatosis
Chuvash Erythrocytosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Erythrocytosis, Familial, 2, also known as chuvash polycythemia, is related to polycythemia and hemangioblastoma, and has symptoms including fatigue and headache. An important gene associated with Erythrocytosis, Familial, 2 is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Cellular responses to stimuli and PI3K-Akt signaling pathway. Affiliated tissues include endothelial and bone marrow, and related phenotypes are failure to thrive and headache
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
25
216
262

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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