Spastic Paraplegia 44, Autosomal Recessive (SPG44)

Alias:
Hereditary Spastic Paraplegia 44
Spg44
Paraplegia, Spastic, Type 44, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia Type 44
Autosomal Recessive Spastic Paraplegia 44
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 44, Autosomal Recessive, also known as hereditary spastic paraplegia 44, is related to pelizaeus-merzbacher-like disease and hypomyelinating leukoencephalopathy, and has symptoms including cerebellar ataxia and action tremor. An important gene associated with Spastic Paraplegia 44, Autosomal Recessive is GJC2 (Gap Junction Protein Gamma 2), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include eye and brain, and related phenotypes are ataxia and dysarthria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
<1/1000000
14
83
1

Medical Symptom

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

Gene & Mutation

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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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