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	fatal familial insomnia

Disease ID	356
Disease	fatal familial insomnia
Definition	An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive insomnia. It is caused by a mutation in the prion protein (PRIONS).
Synonym	familial fatal insomnia familial fatal insomnias familial fatal, insomnia familial fatals, insomnia fatal familial insomnia (disorder) fatal familial insomnias fatal insomnia, familial fatal insomnias, familial fatal, insomnia familial fatals, insomnia familial ffi ffi - familial fatal insomnia insomnia familial fatal insomnia familial fatals insomnia fatal familial insomnia, familial fatal insomnia, fatal familial insomnia, fatal familial [disease/finding] insomnias, familial fatal insomnias, fatal familial
Orphanet	ORPHANET:466
OMIM	OMIM:600072
DOID	DOID:0050433
ICD10	ICD10CM:A81.83
UMLS	C0206042
MeSH	D034062
SNOMED-CT	SNOMEDCT_US_2016_09_01:83157008
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5621 \| PRNP \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:15) 199 \| AIF1 \| 1.06 \| DISEASES 64506 \| CPEB1 \| 2.59 \| DISEASES 1915 \| EEF1A1 \| 1.777 \| DISEASES 2664 \| GDI1 \| 2.814 \| DISEASES 50618 \| ITSN2 \| 2.257 \| DISEASES 4133 \| MAP2 \| 1.341 \| DISEASES 4477 \| MSMB \| 3.237 \| DISEASES 10360 \| NPM3 \| 3.392 \| DISEASES 8863 \| PER3 \| 1.955 \| DISEASES 10687 \| PNMA2 \| 3.445 \| DISEASES 5621 \| PRNP \| 7.278 \| DISEASES 5625 \| PRODH \| 1.894 \| DISEASES 6390 \| SDHB \| 1.167 \| DISEASES 6520 \| SLC3A2 \| 1.482 \| DISEASES 23583 \| SMUG1 \| 2.094 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) PRNP \| 20p13

Disease ID	356
Disease	fatal familial insomnia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0100022 \| Movement disorder \| 1

Disease ID	356
Disease	fatal familial insomnia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0013363 \| dysautonomia
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:29)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1799990	12815603	5621	PRNP	umls:C0206042	BeFree	A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP).	0.587816555	2003	PRNP	20	4699605	A	G
rs1799990	NA	5621	PRNP	umls:C0206042	CLINVAR	NA	0.587816555	NA	PRNP	20	4699605	A	G
rs1800014	12815603	5621	PRNP	umls:C0206042	BeFree	A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP).	0.587816555	2003	PRNP	20	4699875	G	A
rs28933385	NA	5621	PRNP	umls:C0206042	CLINVAR	NA	0.587816555	NA	PRNP	20	4699818	G	A
rs28933385	11756597	5621	PRNP	umls:C0206042	BeFree	The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that caused by sCJD but different from that associated with fCJD(E200K) or FFI.	0.587816555	2001	PRNP	20	4699818	G	A
rs28933385	12609901	5621	PRNP	umls:C0206042	BeFree	Here we have investigated the stability and Cu(II) binding properties of three recombinant variants of murine full-length PrP(23-231)-containing destabilizing point mutations that are associated with human Gerstmann-Sträussler-Scheinker disease (F198S), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (D178N) by electron paramagnetic resonance and circular dichroism spectroscopy.	0.587816555	2003	PRNP	20	4699818	G	A
rs28933385	9813003	5621	PRNP	umls:C0206042	BeFree	To test this hypothesis, we characterized the recombinant variants of human PrP(90-231) containing point mutations corresponding to Gerstmann-Straussler-Scheinker disease (P102L), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (M129/D178N).	0.587816555	1998	PRNP	20	4699818	G	A
rs28933385	24809690	5621	PRNP	umls:C0206042	BeFree	Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutation (E200K vs. V210I and FFI), codon 129 genotype, and PrP(Sc) type affected RT-QuIC response.	0.587816555	2014	PRNP	20	4699818	G	A
rs386602118	18548532	627	BDNF	umls:C0206042	BeFree	Here, we determined the effects of the BDNF Val66met polymorphism on the five-factor personality dimensions (assessed using the NEO-FFI), trait depression (assessed with the DASS-21) in a cross-sectional cohort of 467 healthy volunteers.	0.000271442	2009	NA	NA	NA	NA	NA
rs74315401	9813003	5621	PRNP	umls:C0206042	BeFree	To test this hypothesis, we characterized the recombinant variants of human PrP(90-231) containing point mutations corresponding to Gerstmann-Straussler-Scheinker disease (P102L), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (M129/D178N).	0.587816555	1998	PRNP	20	4699525	C	T
rs74315401	11214924	5621	PRNP	umls:C0206042	BeFree	We found that the main PK cleavage sites of PrP(Sc) are located at residue 97 in FFI, and residue 82 in both CJD178 and a GSS subtype linked to the P102L mutation.	0.587816555	2000	PRNP	20	4699525	C	T
rs74315402	17494694	5621	PRNP	umls:C0206042	BeFree	All Creutzfeldt-Jakob disease and fatal familial insomnia-associated prion protein mutations partially or completely lose the anti-Bax function in human neurons and, except for A117V and V203I, in MCF-7 cells.	0.587816555	2007	PRNP	20	4699570	C	T
rs74315403	NA	5621	PRNP	umls:C0206042	CLINVAR	NA	0.587816555	NA	PRNP	20	4699752	G	A
rs74315403	9288728	5621	PRNP	umls:C0206042	BeFree	We investigated the allelic origin of PrP(res) in brains of subjects heterozygous for the D178N mutation linked to fatal familial insomnia (FFI) and a subtype of Creutzfeldt-Jakob disease (CJD178), as well as for insertional mutations associated with another CJD subtype.	0.587816555	1997	PRNP	20	4699752	G	A
rs74315403	12609901	5621	PRNP	umls:C0206042	BeFree	Here we have investigated the stability and Cu(II) binding properties of three recombinant variants of murine full-length PrP(23-231)-containing destabilizing point mutations that are associated with human Gerstmann-Sträussler-Scheinker disease (F198S), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (D178N) by electron paramagnetic resonance and circular dichroism spectroscopy.	0.587816555	2003	PRNP	20	4699752	G	A
rs74315403	9270595	5621	PRNP	umls:C0206042	BeFree	FFI is associated with an aspartic acid to asparagine mutation at codon 178 of the PrP gene (D178N) in conjunction with methionine at the codon 129 polymorphic site on the mutant allele (cis-129M).	0.587816555	1997	PRNP	20	4699752	G	A
rs74315403	21071944	5621	PRNP	umls:C0206042	BeFree	Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)(129V)) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene (PRNP), but differ in their polymorphism at codon 129 of the mutant allele.	0.587816555	2010	PRNP	20	4699752	G	A
rs74315403	25281825	5621	PRNP	umls:C0206042	BeFree	The D178N mutation of the prion protein (PrP) results in the hereditary prion disease fatal familial insomnia (FFI).	0.587816555	2014	PRNP	20	4699752	G	A
rs74315403	24118545	5621	PRNP	umls:C0206042	BeFree	These findings underline the clear-cut distinction between the neuropathological features of Creutzfeldt-Jakob disease associated with D178N PRNP mutation and those of fatal familial insomnia.	0.587816555	2013	PRNP	20	4699752	G	A
rs74315403	12849238	5621	PRNP	umls:C0206042	BeFree	Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct from that found in a familial form of Creutzfeldt-Jakob disease with the same D178N mutation, shows the effect of the polymorphism at codon 129 of PRNP on phenotypic expression and the possibility of distinct prion strains with diverse pathological potential.	0.587816555	2003	PRNP	20	4699752	G	A
rs74315403	23430483	5621	PRNP	umls:C0206042	BeFree	Fatal familial insomnia (FFI) is a special subtype of genetic human prion diseases that is caused by the D178N mutation of the prion protein gene (PRNP).	0.587816555	2013	PRNP	20	4699752	G	A
rs74315403	12356908	5621	PRNP	umls:C0206042	BeFree	Recombinant human prion protein mutants huPrP D178N/M129 (FFI) and huPrP+9OR (fCJD) reveal proteinase K resistance.	0.587816555	2002	PRNP	20	4699752	G	A
rs74315403	9813003	5621	PRNP	umls:C0206042	BeFree	To test this hypothesis, we characterized the recombinant variants of human PrP(90-231) containing point mutations corresponding to Gerstmann-Straussler-Scheinker disease (P102L), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (M129/D178N).	0.587816555	1998	PRNP	20	4699752	G	A
rs74315403	15623717	5621	PRNP	umls:C0206042	BeFree	The authors present clinical, sleep, and neuroendocrine features of a patient with genetically confirmed fatal familial insomnia (D178N mutation with heterozygosity at codon 129 of the prion protein gene).	0.587816555	2004	PRNP	20	4699752	G	A
rs74315403	22609023	5621	PRNP	umls:C0206042	BeFree	We characterize SSOs in a 51-year-old male with FFI carrying the D178N mutation and the methionine/methionine homozygosity at the polymorphic 129 codon of the PRNP gene and in eight gender and age-matched healthy controls.	0.587816555	2012	PRNP	20	4699752	G	A
rs74315403	19571725	5621	PRNP	umls:C0206042	BeFree	The mutation D178N in the PRNP gene associated with the M129 genotype is usually associated with familial fatal insomnia.	0.587816555	2009	PRNP	20	4699752	G	A
rs74315403	9531435	5621	PRNP	umls:C0206042	BeFree	The D178N mutation, known to be linked to 2 different phenotypes: Fatal Familial Insomnia (FFI) and CJD, was not described so far among Jews.	0.587816555	1998	PRNP	20	4699752	G	A
rs74315405	12609901	5621	PRNP	umls:C0206042	BeFree	Here we have investigated the stability and Cu(II) binding properties of three recombinant variants of murine full-length PrP(23-231)-containing destabilizing point mutations that are associated with human Gerstmann-Sträussler-Scheinker disease (F198S), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (D178N) by electron paramagnetic resonance and circular dichroism spectroscopy.	0.587816555	2003	PRNP	20	4699813	T	C
rs74315407	24809690	5621	PRNP	umls:C0206042	BeFree	Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutation (E200K vs. V210I and FFI), codon 129 genotype, and PrP(Sc) type affected RT-QuIC response.	0.587816555	2014	PRNP	20	4699848	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	356
Disease	fatal familial insomnia
Case	(Waiting for update.)