Menkes Disease (MNK)

Menkes Disease(来自ICD-11)
别称:
Menkes Syndrome
Copper Transport Disease
Menkes Kinky-Hair Syndrome
Mnk
Md
Menkes Kinky Hair Syndrome
Menkes Kinky Hair Disease
Steely Hair Syndrome
Steely Hair Disease
Kinky Hair Disease
Mk
X-Linked Copper Deficiency
Hypocupremia, Congenital
Kinky Hair Syndrome
Menkea Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Menkes Disease, also known as menkes syndrome, is related to occipital horn syndrome and disorder of copper metabolism, and has symptoms including seizures An important gene associated with Menkes Disease is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Detoxification of Reactive Oxygen Species and Copper homeostasis. The drugs Histidine and Copper have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are seizure and spasticity
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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
XL
XLD
Newborn
1-9/100000
43
438
138

疾病表征

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靶点药物

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MGI
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