Neuronopathy, Distal Hereditary Motor, X-Linked (HMNX)

Neuronopathy, Distal Hereditary Motor, X-Linked(来自ICD-11)
别称:
Spinal Muscular Atrophy, Distal, X-Linked 3
Smax3
Dsmax
X-Linked Distal Spinal Muscular Atrophy Type 3
X-Linked Distal Hereditary Motor Neuropathy Type 3
X-Linked Distal Spinal Muscular Atrophy 3
Atp7a-Related Distal Motor Neuropathy
X-Linked Dhmn3
X-Linked Dsma3
Spinal Muscular Atrophy, Distal, X-Linked Recessive
Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
X-Linked Recessive Distal Spinal Muscular Atrophy
Spinal Muscular Atrophy Distal X-Linked Recessive
Neuropathy, Distal Hereditary Motor, X-Linked
X-Linked Distal Hereditary Motor Neuropathy
Distal Spinal Muscular Atrophy, X-Linked, 3
X-Linked Distal Spinal Muscular Atrophy
X-Linked Dhmn
Dsmax3
Hmnx
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuronopathy, Distal Hereditary Motor, X-Linked, also known as spinal muscular atrophy, distal, x-linked 3, is related to occipital horn syndrome and menkes disease. An important gene associated with Neuronopathy, Distal Hereditary Motor, X-Linked is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Detoxification of Reactive Oxygen Species and Copper homeostasis. Affiliated tissues include spinal cord and temporal lobe, and related phenotypes are distal sensory impairment and pes cavus
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参考文献
MALACARDS
--
Unknown
<1/1000000
14
138
30

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靶点药物

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MGI
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