Spastic Paraplegia 64, Autosomal Recessive (SPG64)

Alias:
Hereditary Spastic Paraplegia 64
Spg64
Autosomal Recessive Spastic Paraplegia Type 64
Paraplegia, Spastic, Type 64, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 64
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 64, Autosomal Recessive, also known as hereditary spastic paraplegia 64, is related to spastic paraplegia 82, autosomal recessive and spastic paraplegia 20, autosomal recessive. An important gene associated with Spastic Paraplegia 64, Autosomal Recessive is ENTPD1 (Ectonucleoside Triphosphate Diphosphohydrolase 1), and among its related pathways/superpathways are Metabolism of nucleotides and ATP/ITP metabolism. Affiliated tissues include brain and skeletal muscle, and related phenotypes are spasticity and dysarthria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
13
70
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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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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