Spastic Paraplegia 81, Autosomal Recessive (SPG81)

Alias:
Spg81
Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction
Autosomal Recessive Complex Spg Due to Kennedy Pathway Dysfunction
Hereditary Spastic Paraplegia 81
Autosomal Recessive Spastic Paraplegia Type 81
Spastic Paraplegia 81 Autosomal Recessive
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 81, Autosomal Recessive, also known as spg81, is related to hereditary spastic paraplegia 18 and spastic paraplegia 62, autosomal recessive. An important gene associated with Spastic Paraplegia 81, Autosomal Recessive is SELENOI (Selenoprotein I), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include brain and eye, and related phenotypes are microcephaly and progressive spasticity
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
10
42
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

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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