Familial Infantile Bilateral Striatal Necrosis

Alias:
Familial Infantile Striatonigral Degeneration
Familial Infantile Striatonigral Necrosis
Familial Ibsn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Infantile Bilateral Striatal Necrosis, also known as familial infantile striatonigral degeneration, is related to striatonigral degeneration, infantile and pathologic nystagmus. An important gene associated with Familial Infantile Bilateral Striatal Necrosis is ADAR (Adenosine Deaminase RNA Specific), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and Cytokine Signaling in Immune system. Affiliated tissues include globus pallidus and caudate nucleus, and related phenotypes are spasticity and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Mit
Newborn
<1/1000000
3
37
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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

Title
PMID
Journal
Year
IF
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