Spastic Paraplegia 16, X-Linked (SPG16)

Alias:
Spg16
X-Linked Spastic Paraplegia Type 16
Hereditary Spastic Paraplegia 16
Spastic Paraplegia 16, X-Linked, Complicated
Spastic Paraplegia-16, X-Linked, Complicated
X-Linked Spastic Paraplegia 16
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 16, X-Linked, also known as spg16, is related to atrophy of testis and spastic paraplegia 24, autosomal recessive, and has symptoms including urgency of micturition, abnormal pyramidal signs and restlessness. An important gene associated with Spastic Paraplegia 16, X-Linked is SPG16 (Spastic Paraplegia 16 (Complicated, X-Linked Recessive)), and among its related pathways/superpathways is Primary ovarian insufficiency. Related phenotypes are nystagmus and tetraplegia

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Infant
<1/1000000
13
56
2

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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