fatal familial insomnia

Summary
Definition
A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
Super Class
prion disease
Disease Ontology
DOID:0050433
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5621 PRNP prion protein (Kanno blood group)
Displaying 1 entry
Gene ID Gene Symbol Description Source
19122 Prnp prion protein
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04156 Major prion protein
Displaying 1 entry
UniProt ID Protein Name Source
P04925 Major prion protein
The Human Phenotype Ontology
Displaying entries 11 - 18 of 18 in total
HPO ID HPO Term
HP:0002015 Dysphagia
HP:0000726 Dementia
HP:0012332 Abnormal autonomic nervous system physiology
HP:0001251 Ataxia
HP:0000975 Hyperhidrosis
HP:0001945 Fever
HP:0000016 Urinary retention
HP:0003581 Adult onset
Displaying 1 entry
Gene ID Gene Symbol Description
5621 PRNP prion protein (Kanno blood group)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 4, 2025