Spastic Paraplegia 55, Autosomal Recessive (SPG55)

Alias:
Hereditary Spastic Paraplegia 55
Spg55
Autosomal Recessive Spastic Paraplegia Type 55
Paraplegia, Spastic, Autosomal Recessive, Type 55
Autosomal Recessive Spastic Paraplegia 55
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 55, Autosomal Recessive, also known as hereditary spastic paraplegia 55, is related to neuropathy and 3-methylglutaconic aciduria, type iii, and has symptoms including clonus An important gene associated with Spastic Paraplegia 55, Autosomal Recessive is MTRFR (Mitochondrial Translation Release Factor In Rescue), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include eye and skeletal muscle, and related phenotypes are spasticity and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
15
95
7

Medical Symptom

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

Gene & Mutation

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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
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IF
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