Erythrocytosis, Familial, 6 (ECYT6)

Alias:
Familial Erythrocytosis 6
Ecyt6
Erythrocytosis, Beta-Globin Type
Beta-Globin Type Erythrocytosis
Polycythemia, Beta-Globin Type
Beta-Globin Type Polycythemia
Erythrocytosis 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Erythrocytosis, Familial, 6, also known as familial erythrocytosis 6, is related to sickle cell disease and related diseases and hemoglobin e-beta-thalassemia syndrome. An important gene associated with Erythrocytosis, Familial, 6 is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Oxidation by cytochrome P450. Affiliated tissues include lung, and related phenotypes are polycythemia and increased hematocrit

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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17
117
83

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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