Spastic Paraplegia 54, Autosomal Recessive (SPG54)

Alias:
Hereditary Spastic Paraplegia 54
Spg54
Autosomal Recessive Spastic Paraplegia Type 54
Paraplegia, Spastic, Type 54, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 54
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 54, Autosomal Recessive, also known as hereditary spastic paraplegia 54, is related to spasticity and spastic paraplegia 20, autosomal recessive. An important gene associated with Spastic Paraplegia 54, Autosomal Recessive is DDHD2 (DDHD Domain Containing 2), and among its related pathways/superpathways are Metabolism and Metabolic disorders of biological oxidation enzymes. Affiliated tissues include brain and spinal cord, and related phenotypes are intellectual disability and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
15
71
9

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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