Spastic Paraplegia 23, Autosomal Recessive (SPG23)

Alias:
Spg23
Lison Syndrome
Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome
Spastic Paraparesis, Vitiligo, Premature Graying, Characteristic Facies
Spastic Paraplegia with Pigmentary Abnormalities
Autosomal Recessive Spastic Paraplegia Type 23
Hereditary Spastic Paraplegia 23
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 23, Autosomal Recessive, also known as spg23, is related to hereditary spastic paraplegia 23 and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 23, Autosomal Recessive is DSTYK (Dual Serine/Threonine And Tyrosine Protein Kinase). Affiliated tissues include skin and kidney, and related phenotypes are hyperreflexia and bowel incontinence
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
7
8

Medical Symptom

#
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
Year
IF
No Data Found!
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