Autosomal Dominant Beta Thalassemia

Alias:
Inclusion Body Beta-Thalassemia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Beta Thalassemia, also known as inclusion body beta-thalassemia, is related to thalassemia and beta-thalassemia. An important gene associated with Autosomal Dominant Beta Thalassemia is HBE1 (Hemoglobin Subunit Epsilon 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Golgi-to-ER retrograde transport. Related phenotype is Weakly decreased NFAT1-GFP nuclear translocation.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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5
32
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
Strain of Origin
Publications
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References Literature

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