Spastic Paraplegia 45, Autosomal Recessive (SPG45)

Alias:
Hereditary Spastic Paraplegia 45
Spg45
Autosomal Recessive Spastic Paraplegia Type 45
Autosomal Recessive Spastic Paraplegia Type 65
Spg65
Paraplegia, Spastic, Type 45, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 45
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 45, Autosomal Recessive, also known as hereditary spastic paraplegia 45, is related to spastic paraplegia 20, autosomal recessive and paraplegia. An important gene associated with Spastic Paraplegia 45, Autosomal Recessive is NT5C2 (5'-Nucleotidase, Cytosolic II). Affiliated tissues include skeletal muscle and brain, and related phenotypes are intellectual disability and flexion contracture of toe
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
19
82
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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