Hemochromatosis, Type 2b (HFE2B)

Alias:
Hemochromatosis Type 2b
Hfe2b
Hemochromatosis 2b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemochromatosis, Type 2b, also known as hemochromatosis type 2b, is related to acute porphyria and congenital dyserythropoietic anemia. An important gene associated with Hemochromatosis, Type 2b is HAMP (Hepcidin Antimicrobial Peptide), and among its related pathways/superpathways are Insulin receptor recycling and TAR syndrome. Affiliated tissues include skin and heart, and related phenotypes are secondary amenorrhea and hepatic fibrosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
10
75
9

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

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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