Acrodermatitis Enteropathica, Zinc-Deficiency Type (AEZ)

Acrodermatitis Enteropathica, Zinc-Deficiency Type(来自ICD-11)
别称:
Acrodermatitis Enteropathica
Aez
Acrodermatitis Enteropathica, Zinc Deficiency Type
Inherited Zinc Deficiency
Acrodermatitis Enteropathica, Zinc Deficiency
Hereditary Acrodermatitis Enteropathica
Primary Zinc Malabsorption Syndrome
Danbolt-Closs Syndrome
Brandt Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acrodermatitis Enteropathica, Zinc-Deficiency Type, also known as acrodermatitis enteropathica, is related to acrodermatitis and enteropathica, and has symptoms including cerebellar ataxia, diarrhea and tremor. An important gene associated with Acrodermatitis Enteropathica, Zinc-Deficiency Type is SLC39A4 (Solute Carrier Family 39 Member 4), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Nuclear receptors meta-pathway. The drug Zinc cation has been mentioned in the context of this disorder. Affiliated tissues include skin and pancreatic islet, and related phenotypes are generalized abnormality of skin and malabsorption
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相关ID:
MESH:C538178
ICD11:1813939482

基础信息

遗传方式
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参考文献
MALACARDS
AR
Newborn
1-9/1000000
17
105
36

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MGI
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