Spastic Paraplegia 26, Autosomal Recessive (SPG26)

Alias:
Spg26
Hereditary Spastic Paraplegia 26
Autosomal Recessive Spastic Paraplegia Type 26
Gm2 Synthase Deficiency
Paraplegia, Spastic, Autosomal Recessive, Type 26
Autosomal Recessive Spastic Paraplegia 26
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 26, Autosomal Recessive, also known as spg26, is related to spastic paraplegia 20, autosomal recessive and paraplegia, and has symptoms including ataxia An important gene associated with Spastic Paraplegia 26, Autosomal Recessive is B4GALNT1 (Beta-1,4-N-Acetyl-Galactosaminyltransferase 1), and among its related pathways/superpathways is Ganglio sphingolipid metabolism. Affiliated tissues include skeletal muscle and cerebellum, and related phenotypes are intellectual disability and hyperreflexia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
16
90
4

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

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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
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IF
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