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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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 20713 | Serpini1 | serine (or cysteine) peptidase inhibitor, clade I, member 1 | |
| 20714 | Serpina3k | serine (or cysteine) peptidase inhibitor, clade A, member 3K | |
| 20720 | Serpine2 | serine (or cysteine) peptidase inhibitor, clade E, member 2 | |
| 67931 | Serpini2 | serine (or cysteine) peptidase inhibitor, clade I, member 2 |
