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MIRAGE
familial encephalopathy with neuroserpin inclusion bodies
Summary
- Synonym
-
- FENIB
- Definition
- A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
- Super Class
- autosomal dominant disease neurodegenerative disease
External Links
- Disease Ontology
- DOID:0050831
- Mondo Disease Ontology
- MeSH
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75635 | Serpin B7 | |
| Q99574 | Neuroserpin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35684 | Neuroserpin |
