Spastic Paraplegia 77, Autosomal Recessive (SPG77)

Alias:
Hereditary Spastic Paraplegia 77
Spg77
Autosomal Recessive Spastic Paraplegia Type 77
Autosomal Recessive Spastic Paraplegia 77
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 77, Autosomal Recessive, also known as hereditary spastic paraplegia 77, is related to fars2 deficiency and combined oxidative phosphorylation deficiency 14. An important gene associated with Spastic Paraplegia 77, Autosomal Recessive is FARS2 (Phenylalanyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are progressive spastic paraplegia and seizure
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
13
55
3

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

Name
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
Year
IF
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