Hemochromatosis Type 2 (JHH)

Alias:
Juvenile Hemochromatosis
Juvenile Hereditary Hemochromatosis
Hemochromatosis, Juvenile
Hemochromatosis, Type 1
Hemochromatosis, Type 2
Hemochromatosis
Hfe2
Jhh
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemochromatosis Type 2, also known as juvenile hemochromatosis, is related to hjv or hamp-related hemochromatosis and hemochromatosis, type 2b, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Hemochromatosis Type 2 is HJV (Hemojuvelin BMP Co-Receptor), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Wnt / Hedgehog / Notch. The drugs Deferiprone and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include liver and pancreas, and related phenotypes are homeostasis/metabolism and nervous system
Related ID:
MESH:C537247

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
18
192
86

Medical Symptom

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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

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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
Journal
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IF
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