Spastic Paraplegia 48, Autosomal Recessive (SPG48)

Alias:
Hereditary Spastic Paraplegia 48
Spg48
Autosomal Recessive Spastic Paraplegia Type 48
Paraplegia, Spastic, Type 48, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 48
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 48, Autosomal Recessive, also known as hereditary spastic paraplegia 48, is related to spastic paraplegia 20, autosomal recessive and spastic paraplegia 11, autosomal recessive, and has symptoms including ataxia An important gene associated with Spastic Paraplegia 48, Autosomal Recessive is AP5Z1 (Adaptor Related Protein Complex 5 Subunit Zeta 1). Affiliated tissues include brain, and related phenotypes are hypoplasia of the corpus callosum and progressive spastic paraplegia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
11
59
6

Medical Symptom

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

Gene & Mutation

#
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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top