Spastic Paraplegia 56, Autosomal Recessive, with or Without Pseudoxanthoma Elasticum (SPG56)

Alias:
Spastic Paraplegia 56, Autosomal Recessive
Spg56
Paraplegia, Spastic, Type 56, Autosomal Recessive
Hereditary Spastic Paraplegia 56
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 56, Autosomal Recessive, with or Without Pseudoxanthoma Elasticum, also known as spastic paraplegia 56, autosomal recessive, is related to hereditary spastic paraplegia 56 and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 56, Autosomal Recessive, with or Without Pseudoxanthoma Elasticum is CYP2U1 (Cytochrome P450 Family 2 Subfamily U Member 1). Affiliated tissues include brain and thymus, and related phenotypes are babinski sign and lower limb hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
4
8

Medical Symptom

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Description
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No data available

Gene & Mutation

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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