Neurodegeneration with Brain Iron Accumulation (NBIA)

Alias:
Nbia
Neurodegeneration with Brain Iron Accumulation Disorders
Neurodegeneration, with Brain Iron Accumulation
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodegeneration with Brain Iron Accumulation, also known as nbia, is related to neurodegeneration with brain iron accumulation 4 and neurodegeneration with brain iron accumulation 5. An important gene associated with Neurodegeneration with Brain Iron Accumulation is C19orf12 (Chromosome 19 Open Reading Frame 12), and among its related pathways/superpathways are Autophagy and Ferroptosis. The drugs Deferiprone and Iron have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are homeostasis/metabolism and cellular
Related ID:
MESH:C538421

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLR
AR
AD
XL
Infant
1-9/1000000
85
785
83

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
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IF
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