Striatonigral Degeneration, Infantile (SNDI)

Alias:
Infantile Bilateral Striatal Necrosis
Ibsn
Infantile Striatonigral Degeneration
Striatonigral Degeneration Infantile
Infantile Striatonigral Necrosis
Sndi
Familial Infantile Bilateral Striatal Necrosis
Bilateral Striatal Necrosis, Infantile
Striatal Degeneration, Familial
Familial Striatal Degeneration
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Striatonigral Degeneration, Infantile, also known as infantile bilateral striatal necrosis, is related to familial infantile bilateral striatal necrosis and sporadic infantile bilateral striatal necrosis, and has symptoms including muscle spasticity An important gene associated with Striatonigral Degeneration, Infantile is NUP62 (Nucleoporin 62). Affiliated tissues include globus pallidus and caudate nucleus, and related phenotypes are intellectual disability and spasticity

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Mit
All ages
1-9/1000000
2
11
8

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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