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

Alias:

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

加入收藏

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

Related ID：

MALACARDS：NRN058

OMIM：300489

MESH：C564506