Menkes Disease

About the Disease
Menkes Disease, also known as copper transport disease, 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 Droxidopa have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are spasticity and developmental regression

Common Targets
COMT | SLC6A2 | PTPN1 | GSK3B | ATP7A | Heat shock protein 70 (nonspecified subtype) | CREBBP | TOP2A | G6647

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