Spinal and Bulbar Muscular Atrophy, X-Linked 1 (SMAX1)

Alias:
Kennedy Disease
Sbma
Spinal and Bulbar Muscular Atrophy
Kennedy's Disease
X-Linked Spinal and Bulbar Muscular Atrophy
Smax1
Kennedy Spinal and Bulbar Muscular Atrophy
Kd
Spinal and Bulbar Muscular Atrophy of Kennedy
Bulbospinal Neuronopathy, X-Linked Recessive
Bulbospinal Muscular Atrophy, X-Linked
X-Linked Bulbospinal Muscular Atrophy
X-Linked Bulbospinal Amyotrophy
Bulbo-Spinal Atrophy, X-Linked
Spinobulbar Muscular Atrophy
X-Linked Bsma
Xbsn
Atrophy, Muscular, Spinal and Bulbar, Kennedy Type
Spinal and Bulbar Muscular Atrophy X-Linked 1
Bulbospinal Neuronopathy X-Linked Recessive
X-Linked Spinal Bulbar Muscular Atrophy
Bulbospinal Muscular Atrophy X-Linked
Bulbospinal Amyotrophy, X-Linked
Spinal Bulbar Muscular Atrophy
Atrophy, Muscular, Spinobulbar
X-Linked Bulbo-Spinal Atrophy
Bulbospinal Neuronopathy
Kennedy Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinal and Bulbar Muscular Atrophy, X-Linked 1, also known as kennedy disease, is related to muscular atrophy and motor neuron disease, and has symptoms including muscular fasciculation, muscle cramp and tremor. An important gene associated with Spinal and Bulbar Muscular Atrophy, X-Linked 1 is AR (Androgen Receptor), and among its related pathways/superpathways are CCR5 Pathway in Macrophages and Neuroscience. The drugs Goserelin and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and tongue, and related phenotypes are dysarthria and gait disturbance
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
<1/1000000
44
495
221

Medical Symptom

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Description
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No data available

Gene & Mutation

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Disease Model

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MGI
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References Literature

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