Details of Disease | DrugMAP

General Information of Disease (ID: DISNQHXO)

Disease Name	Familial encephalopathy with neuroserpin inclusion bodies
Synonyms	encephalopathy, familial, with Collins bodies; encephalopathy, familial, with neuroserpin inclusion bodies; FENIB
Disease Hierarchy	DISAMCNS: Progressive myoclonus epilepsy DISP9UN3: Mendelian encephalopathy DISNQHXO: Familial encephalopathy with neuroserpin inclusion bodies
Disease Identifiers	MONDO ID MONDO_0011412 MESH ID C536841 UMLS CUI C1858680 OMIM ID 604218 MedGen ID 346965 Orphanet ID 85110 SNOMED CT ID 702421006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERPINI1	OTUJHIJW	Strong	Autosomal dominant	[1]
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References

1	Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet. 2002 Jun 29;359(9325):2242-7. doi: 10.1016/S0140-6736(02)09293-0.