Spinal Muscular Atrophy, X-Linked 2 (SMAX2)

X-连锁脊髓性肌萎缩症2型(来自ICD-11)

别称:

Smax2

Arthrogryposis Multiplex Congenita, Distal, X-Linked

Infantile-Onset X-Linked Spinal Muscular Atrophy

X-Linked Spinal Muscular Atrophy Type 2

X-Linked Distal Arthrogryposis Multiplex Congenita

Spinal Muscular Atrophy with Arthrogryposis

Xlsma

Amcx1

Spinal Muscular Atrophy, X-Linked Lethal Infantile

Spinal Muscular Atrophy, X-Linked 2, Infantile

Spinal Muscular Atrophy, Infantile X-Linked

X-Linked Spinal Muscular Atrophy 2

Xl-Sma

Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile

Arthrogryposis Multiplex Congenita Distal X-Linked

Spinal Muscular Atrophy X-Linked Lethal Infantile

Spinal Muscular Atrophy, X-Linked Infantile

X-Linked Arthrogryposis Multiplex Congenita

X-Linked Infantile Spinal Muscular Atrophy

Spinal Muscular Atrophy Infantile X-Linked

Arthrogryposis Spinal Muscular Atrophy

Spinal Muscular Atrophy X-Linked 2

Arthrogryposis, X-Linked, Type I

Arthrogryposis, X-Lined, Type I

X-Linked Arthrogryposis Type I

Arthrogryposis X-Linked Type I

X-Linked Lethal Infantile Sma

Infantile X-Linked Sma

Amc, Distal, X-Linked

Distal X-Linked Amc

Amc Distal X-Linked

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

脊髓性肌萎缩，X连锁2型，也称为smax2，与脊髓性肌萎缩，II型和脊髓性肌萎缩有关，症状包括面瘫。与脊髓性肌萎缩，X连锁2型有关的重要基因是UBA1（泛素样修饰激活酶1），其相关通路/超级通路包括SARS-CoV-2调节宿主翻译机器和泛素化级联。附属组织包括脊髓和睾丸，相关表型为骨骼肌萎缩和无反应性。

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