Spastic Paraplegia 28, Autosomal Recessive (SPG28)

Alias:
Hereditary Spastic Paraplegia 28
Spg28
Autosomal Recessive Spastic Paraplegia Type 28
Paraplegia, Spastic, Type 28, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 28
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 28, Autosomal Recessive, also known as hereditary spastic paraplegia 28, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including abnormal pyramidal signs An important gene associated with Spastic Paraplegia 28, Autosomal Recessive is DDHD1 (DDHD Domain Containing 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include eye and brain, and related phenotypes are hyperreflexia and babinski sign
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
6
35
6

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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