Hemochromatosis, Type 2a (HFE2A)

Alias:
Hemochromatosis Type 2a
Hfe2a
Juvenile Hemochromatosis
Hemochromatosis, Juvenile, Type 2a
Hemochromatosis Type 2
Hemochromatosis 2a
Hefe2
Jh
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemochromatosis, Type 2a, also known as hemochromatosis type 2a, is related to rare hereditary hemochromatosis and hemochromatosis, type 2b, and has symptoms including lethargy and weakness. An important gene associated with Hemochromatosis, Type 2a is HJV (Hemojuvelin BMP Co-Receptor), and among its related pathways/superpathways is TAR syndrome. Affiliated tissues include heart and skin, and related phenotypes are hepatomegaly and increased serum iron
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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7
18
32

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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