Hemochromatosis, Type 3 (HFE3)

Alias:
Hemochromatosis Type 3
Hemochromatosis Due to Defect in Transferrin Receptor 2
Tfr2-Related Hemochromatosis
Hfe3
Hereditary Hemochromatosis Type 3
Hemochromatosis 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemochromatosis, Type 3, also known as hemochromatosis type 3, is related to tfr2-related hereditary hemochromatosis and thalassemia, and has symptoms including fatigue An important gene associated with Hemochromatosis, Type 3 is TFR2 (Transferrin Receptor 2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Insulin receptor recycling. Affiliated tissues include liver and skin, and related phenotypes are elevated transferrin saturation and increased circulating ferritin concentration
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
<1/1000000
13
152
6

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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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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