Spastic Paraplegia 75, Autosomal Recessive (SPG75)

Alias:
Hereditary Spastic Paraplegia 75
Spg75
Autosomal Recessive Spastic Paraplegia Type 75
Autosomal Recessive Spastic Paraplegia 75
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 75, Autosomal Recessive, also known as hereditary spastic paraplegia 75, is related to balo concentric sclerosis and central pontine myelinolysis. An important gene associated with Spastic Paraplegia 75, Autosomal Recessive is MAG (Myelin Associated Glycoprotein), and among its related pathways/superpathways are Oligodendrocyte specification and differentiation, leading to myelin components for CNS and Glial cell differentiation. Affiliated tissues include brain, and related phenotypes are intellectual disability and spasticity
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
12
82
2

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
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