Spastic Paraplegia 53, Autosomal Recessive (SPG53)

Spastic Paraplegia 53, Autosomal Recessive(来自ICD-11)
别称:
Hereditary Spastic Paraplegia 53
Spg53
Autosomal Recessive Spastic Paraplegia Type 53
Paraplegia, Spastic, Type 53, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 53
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Basic Information
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References Literature
Spastic Paraplegia 53, Autosomal Recessive, also known as hereditary spastic paraplegia 53, is related to spastic paraplegia 52, autosomal recessive and low compliance bladder, and has symptoms including clonus An important gene associated with Spastic Paraplegia 53, Autosomal Recessive is VPS37A (VPS37A Subunit Of ESCRT-I), and among its related pathways/superpathways are Vesicle-mediated transport and trans-Golgi Network Vesicle Budding. Affiliated tissues include brain, and related phenotypes are clonus and hyperreflexia in upper limbs
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MALACARDS
AR
Infant
<1/1000000
12
58
1

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