Spinal Muscular Atrophy, X-Linked 2 (SMAX2)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinal Muscular Atrophy, X-Linked 2, also known as smax2, is related to spinal muscular atrophy, type ii and spinal muscular atrophy, and has symptoms including facial paresis An important gene associated with Spinal Muscular Atrophy, X-Linked 2 is UBA1 (Ubiquitin Like Modifier Activating Enzyme 1), and among its related pathways/superpathways are SARS-CoV-2 modulates host translation machinery and Ubiquitination Cascade. Affiliated tissues include spinal cord and testes, and related phenotypes are skeletal muscle atrophy and areflexia

Related ID：

MALACARDS：SPN402

OMIM：301830

MESH：C535380