Spastic Paraplegia 62, Autosomal Recessive (SPG62)

Alias:
Hereditary Spastic Paraplegia 62
Spg62
Autosomal Recessive Spastic Paraplegia Type 62
Autosomal Recessive Spastic Paraplegia 62
Paraplegia, Spastic, Type 62
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 62, Autosomal Recessive, also known as hereditary spastic paraplegia 62, is related to spastic ataxia 3 and spastic ataxia 2. An important gene associated with Spastic Paraplegia 62, Autosomal Recessive is ERLIN1 (ER Lipid Raft Associated 1), and among its related pathways/superpathways is Cytoskeletal Signaling. Affiliated tissues include skeletal muscle and cerebellum, and related phenotypes are lower limb spasticity and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
12
54
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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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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