Spastic Paraplegia 30, Autosomal Dominant (SPG30)

Alias:
Hereditary Spastic Paraplegia 30
Spg30
Spastic Paraplegia 30, Autosomal Recessive
Autosomal Spastic Paraplegia Type 30
Paraplegia, Spastic, Type 30, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 30
Autosomal Dominant Spastic Paraplegia 30
Spastic Paraplegia 30
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 30, Autosomal Dominant, also known as hereditary spastic paraplegia 30, is related to spasticity and spastic paraparesis. An important gene associated with Spastic Paraplegia 30, Autosomal Dominant is KIF1A (Kinesin Family Member 1A). Affiliated tissues include brain and eye, and related phenotypes are babinski sign and unsteady gait
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
<1/1000000
20
111
41

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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