Log In|Sign Up
ENHemochromatosis, Type 1 (HFE1)
Alias:
Hemochromatosis
Hereditary Hemochromatosis
Hemochromatosis Type 1
Symptomatic Form of Hemochromatosis Type 1
Hh
Symptomatic Form of Classic Hemochromatosis
Hfe1
Symptomatic Form of Hfe-Related Hereditary Hemochromatosis
Hfe Hemochromatosis, Modifier of
Hereditary Haemochromatosis
Iron Storage Disorder
Haemochromatosis
Bronze Diabetes
Hlah
Symptomatic Form of Hfe-Related Hemochromatosis
Von Recklenhausen-Applebaum Disease
Primary Hereditary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome
Hemochromatosis, Hereditary
Familial Hemochromatosis
Genetic Hemochromatosis
Primary Hemochromatosis
Pigmentary Cirrhosis
Bronzed Cirrhosis
Hemochromatosis 1
Bronze Cirrhosis
Diabetes Bronze
Hfe
Hc
加入收藏
Hemochromatosis, Type 1, also known as hemochromatosis, is related to hemochromatosis, type 4 and hemochromatosis, type 3, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Hemochromatosis, Type 1 is HFE (Homeostatic Iron Regulator), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. The drugs Deferiprone and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are abnormality of iron homeostasis and hyperpigmentation of the skin
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
