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中文Hemochromatosis, 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
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血色素沉着症1型，又称血色素沉着症，与血色素沉着症4型和血色素沉着症3型有关，症状包括腹痛、便秘和腹泻。与血色素沉着症1型有关的重要基因是HFE（稳态铁调节因子），其相关通路/超通路包括无机离子/氨基酸/寡肽的运输和葡萄糖/能量代谢。在该疾病的背景下，已提到的药物有去铁酮和去铁胺。相关组织包括肝脏和心脏，相关表型为铁稳态异常和皮肤色素沉着。
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Basic Information
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Reference
MALACARDS
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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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MGI
Related Gene
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