Spastic Paralysis, Infantile-Onset Ascending (IAHSP)

Spastic Paralysis, Infantile-Onset Ascending(来自ICD-11)
别称:
Iahsp
Infantile-Onset Ascending Hereditary Spastic Paralysis
Spastic Paralysis, Infantile Onset Ascending
Paralysis, Spastic, Hereditary, Ascending, Infantile-Onset
Infantile-Onset Ascending Hereditary Spastic Paraplegia
Hereditary Spastic Paralysis, Infantile Onset Ascending
Infantile Onset Ascending Spastic Paralysis
Infantile-Onset Ascending Spastic Paralysis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paralysis, Infantile-Onset Ascending, also known as iahsp, is related to spastic paraplegia 20, autosomal recessive and spastic paraparesis, and has symptoms including muscle weakness and facial paresis. An important gene associated with Spastic Paralysis, Infantile-Onset Ascending is ALS2 (Alsin Rho Guanine Nucleotide Exchange Factor ALS2). Affiliated tissues include spinal cord and eye, and related phenotypes are spasticity and hyperreflexia
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基础信息

遗传方式
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参考文献
MALACARDS
AR
Newborn
<1/1000000
1
9
16

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靶点药物

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MGI
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