Spastic Paraplegia 15, Autosomal Recessive (SPG15)

Alias:
Spg15
Kjellin Syndrome
Hereditary Spastic Paraplegia 15
Spastic Paraplegia-Retinal Degeneration Syndrome
Autosomal Recessive Spastic Paraplegia Type 15
Spastic Paraplegia and Retinal Degeneration
Hereditary Spastic Paraparesis Type 15
Autosomal Recessive Spastic Paraplegia 15
Paraplegia, Spastic, Type 15
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 15, Autosomal Recessive, also known as spg15, is related to mast syndrome and spastic paraparesis, and has symptoms including ataxia, clonus and urgency of micturition. An important gene associated with Spastic Paraplegia 15, Autosomal Recessive is ZFYVE26 (Zinc Finger FYVE-Type Containing 26). Affiliated tissues include cerebellum and retina, and related phenotypes are hypoplasia of the corpus callosum and intellectual disability
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
16
82
21

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

Name
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
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