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familial encephalopathy with neuroserpin inclusion bodies

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0011412:  familial encephalopathy with neuroserpin inclusion bodies
GARD:0010037: 
MESH:C536841: 
Orphanet:85110: 
SCTID:702421006: 
UMLS:C1858680: