Spastic Paraplegia 42, Autosomal Dominant (SPG42)

Alias:
Hereditary Spastic Paraplegia 42
Spg42
Autosomal Dominant Spastic Paraplegia Type 42
Paraplegia, Spastic, Type 42, Autosomal Dominant
Autosomal Dominant Spastic Paraplegia 42
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 42, Autosomal Dominant, also known as hereditary spastic paraplegia 42, is related to spasticity and spastic paraplegia 4, autosomal dominant. An important gene associated with Spastic Paraplegia 42, Autosomal Dominant is SLC33A1 (Solute Carrier Family 33 Member 1). Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are hyperreflexia and babinski sign
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
20
112
4

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

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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
Journal
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IF
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