Details of Disease | DrugMAP

General Information of Disease (ID: DIS1FL1J)

Disease Name	Fatal familial insomnia
Synonyms	fatal familial INSOMNIA; Insomnia, fatal familial; FFI; familial fatal insomnia; Insomnia familial fatal; fatal familial insomnia
Definition	Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.
Disease Hierarchy	DIS0AFR7: Insomnia DISPN7D2: Inherited neurodegenerative disorder DISOUMB0: Prion disease DIS1FL1J: Fatal familial insomnia
Disease Identifiers	MONDO ID MONDO_0010808 MESH ID D034062 UMLS CUI C0206042 OMIM ID 600072 MedGen ID 104768 Orphanet ID 466 SNOMED CT ID 83157008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSNK2A2	TT7GR5W	Strong	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GLS	DE3E0VT	Definitive	Biomarker	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRNP	OTE85L1Q	Supportive	Autosomal dominant	[3]
MDH1	OTJEO4E8	Strong	Genetic Variation	[4]
NDUFB8	OTW4A4Q0	Strong	Altered Expression	[5]
RASA2	OTL06RG2	Strong	Genetic Variation	[6]
C4BPA	OTHNH6Y8	Definitive	Genetic Variation	[7]
CARD14	OTADQHOV	Definitive	Genetic Variation	[7]
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⏷ Show the Full List of 6 DOT(s)

References

1	Different expression patterns of CK2 subunits in the brains of experimental animals and patients with transmissible spongiform encephalopathies.Arch Virol. 2008;153(6):1013-20. doi: 10.1007/s00705-008-0084-z. Epub 2008 Apr 11.
2	Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism.Am J Hum Genet. 1993 Oct;53(4):822-7.
3	Genetic Prion Disease. 2003 Mar 27 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
4	Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.Biomolecules. 2019 Nov 28;9(12):800. doi: 10.3390/biom9120800.
5	Fatal familial insomnia: mitochondrial and protein synthesis machinery decline in the mediodorsal thalamus.Brain Pathol. 2017 Jan;27(1):95-106. doi: 10.1111/bpa.12408. Epub 2016 Aug 2.
6	The associations of two SNPs in miRNA-146a and one SNP in ZBTB38-RASA2 with the disease susceptibility and the clinical features of the Chinese patients of sCJD and FFI.Prion. 2018 Jan 2;12(1):34-41. doi: 10.1080/19336896.2017.1405885. Epub 2018 Jan 2.
7	Structural facets of disease-linked human prion protein mutants: a molecular dynamic study.Proteins. 2010 Dec;78(16):3270-80. doi: 10.1002/prot.22834.