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
External Links
Disease Ontology
DOID:0050433
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1116 CHI3L1 chitinase 3 like 1
4190 MDH1 malate dehydrogenase 1
5621 PRNP prion protein (Kanno blood group)
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 18 in total
HPO ID HPO Term
HP:0001336 Myoclonus
HP:0006790 Cerebral cortex with spongiform changes
HP:0000726 Dementia
HP:0002019 Constipation
HP:0000016 Urinary retention
HP:0002529 Neuronal loss in central nervous system
HP:0001251 Ataxia
HP:0100785 Insomnia
HP:0001945 Fever
HP:0000006 Autosomal dominant inheritance
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 19, 2024