Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

Alias:
Nbia4
Neurodegeneration with Brain Iron Accumulation 4
Mpan
Neurodegeneration with Brain Iron Accumulation Due to C19orf12 Mutation
Neurodegeneration with Brain Iron Accumulation Type 4
Nbia Due to C19orf12 Mutation
Mitochondrial Membrane Protein-Associated Neurodegeneration Due to C19orf12 Mutation
Mitochondrial Protein-Associated Neurodegeneration
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Membrane Protein-Associated Neurodegeneration, also known as nbia4, is related to neurodegeneration with brain iron accumulation 4 and neurodegeneration with brain iron accumulation, and has symptoms including ataxia, muscle spasticity and tremor. An important gene associated with Mitochondrial Membrane Protein-Associated Neurodegeneration is C19orf12 (Chromosome 19 Open Reading Frame 12). The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are spasticity and dysarthria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
1-9/1000000
1
4
24

Medical Symptom

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

Gene & Mutation

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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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