Fabry Disease (FD)

Fabry Disease(来自ICD-11)
别称:
Alpha-Galactosidase a Deficiency
Angiokeratoma Corporis Diffusum
Anderson-Fabry Disease
Fabry Disease, Cardiac Variant
Fabry's Disease
Fd
Ceramide Trihexosidase Deficiency
Hereditary Dystopic Lipidosis
Diffuse Angiokeratoma
Gla Deficiency
Alpha Galactosidase Deficiency
Deficiency of Melibiase
Angiokeratoma Diffuse
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fabry Disease, also known as alpha-galactosidase a deficiency, is related to kanzaki disease and schindler disease, and has symptoms including abdominal pain, angina pectoris and muscular fasciculation. An important gene associated with Fabry Disease is GLA (Galactosidase Alpha). The drugs Acetaminophen and Histamine have been mentioned in the context of this disorder. Affiliated tissues include skin and kidney, and related phenotypes are hearing impairment and corneal opacity
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相关ID:
MESH:D000795
ICD11:66996647

基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
XLD
XL
XLR
Child
1-9/1000000
63
572
517

疾病表征

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靶点药物

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疾病模型

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MGI
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