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	gerstmann-straussler disease

Disease ID	1446
Disease	gerstmann-straussler disease
Definition	An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)
Synonym	disease, gerstmann-straussler diseases, gerstmann-straussler encephalopathy, subacute spongiform, gerstmann-straussler type gerstmann straussler disease gerstmann straussler inherited spongiform enceph gerstmann straussler inherited spongiform encephalopathy gerstmann straussler scheinker dis gerstmann straussler scheinker disease gerstmann straussler scheinker syndrome gerstmann straussler syndrome gerstmann-straussler diseases gerstmann-straussler inherited spongiform encephalopathy gerstmann-straussler syndrome gerstmann-straussler-scheinker disease gerstmann-straussler-scheinker disease [disease/finding] gerstmann-straussler-scheinker syndrome gerstmann-straussler-scheinker syndrome (disorder) gerstmann-strÃ¤ussler-scheinker syndrome gerstmn-straus-schnk syn gsd gss gss - gerstmann-straussler-scheinker syndrome gss syndrome inherited spongiform enceph gerstmann straussler inherited spongiform encephalopathy, gerstmann straussler inherited spongiform encephalopathy, gerstmann-straussler
Orphanet	ORPHANET:356
OMIM	OMIM:137440 OMIM:601002
DOID	DOID:4249
UMLS	C0017495
MeSH	D016098
SNOMED-CT	SNOMEDCT_US_2016_09_01:67155006
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:2) 4477 \| MSMB \| 2.512 \| DISEASES 5621 \| PRNP \| 6.23 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1446
Disease	gerstmann-straussler disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1446
Disease	gerstmann-straussler disease
Manually Symptom	(Waiting for update.)
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:44)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11538758	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699534	C	A,T
rs11538758	15716520	5621	PRNP	umls:C0017495	BeFree	Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJD), two with dural graft associated CJD (dCJD), one with Gerstmann-Straussler-Scheinker disease (GSS) with a PrP P102L mutation (GSS102), and two with a P105L mutation (GSS105).	0.600051302	2005	PRNP	20	4699534	C	A,T
rs11538758	19443103	5621	PRNP	umls:C0017495	BeFree	A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis.	0.600051302	2009	PRNP	20	4699534	C	A,T
rs17852079	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699899	C	A,T
rs1800014	9153600	5621	PRNP	umls:C0017495	BeFree	A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene.	0.600051302	1997	PRNP	20	4699875	G	A
rs193922906	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	NA	NA	NA	NA	NA
rs28933385	10483920	5621	PRNP	umls:C0017495	BeFree	We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), 1 iatrogenic CJD, 1 Gerstmann-Sträussler-Scheinker syndrome (GSS) with the Pro102Leu mutation of PrP, 3 familial CJD (fCJD) with the Glu200Lys mutation and, for the first time, 7 fCJD with the Val210ll3e mutation.	0.600051302	1999	PRNP	20	4699818	G	A
rs28933385	9813003	5621	PRNP	umls:C0017495	BeFree	The stability properties of the P102L variant were indistinguishable from those of wild-type PrP, whereas the E200K mutation resulted in a very small destabilization of the protein.	0.600051302	1998	PRNP	20	4699818	G	A
rs28933385	12609901	5621	PRNP	umls:C0017495	BeFree	The F198S and E200K variants of PrP(23-231) differed in Cu(II) binding from the wild-type mPrP(23-231).	0.600051302	2003	PRNP	20	4699818	G	A
rs398122413	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699853	G	C
rs74315401	10483920	5621	PRNP	umls:C0017495	BeFree	We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), 1 iatrogenic CJD, 1 Gerstmann-Sträussler-Scheinker syndrome (GSS) with the Pro102Leu mutation of PrP, 3 familial CJD (fCJD) with the Glu200Lys mutation and, for the first time, 7 fCJD with the Val210ll3e mutation.	0.600051302	1999	PRNP	20	4699525	C	T
rs74315401	9653185	5621	PRNP	umls:C0017495	BeFree	Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease.	0.600051302	1998	PRNP	20	4699525	C	T
rs74315401	11967261	5621	PRNP	umls:C0017495	BeFree	Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L.	0.600051302	2002	PRNP	20	4699525	C	T
rs74315401	21167505	5621	PRNP	umls:C0017495	BeFree	Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia.	0.600051302	2011	PRNP	20	4699525	C	T
rs74315401	8105771	5621	PRNP	umls:C0017495	BeFree	Transgenic mice expressing high levels of MoPrP-P101L, corresponding to the GSS point mutation (P102L) in human PrP, spontaneously develop neurologic dysfunction, spongiform degeneration, and astrocytic gliosis.	0.600051302	1993	PRNP	20	4699525	C	T
rs74315401	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699525	C	T
rs74315401	9153600	5621	PRNP	umls:C0017495	BeFree	A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene.	0.600051302	1997	PRNP	20	4699525	C	T
rs74315401	22384235	5621	PRNP	umls:C0017495	BeFree	Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation.	0.600051302	2012	PRNP	20	4699525	C	T
rs74315401	19696976	5621	PRNP	umls:C0017495	BeFree	A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann-Sträussler-Scheinker disease (GSS), which is a rare hereditary transmissible spongiform encephalopathy (TSE).	0.600051302	2010	PRNP	20	4699525	C	T
rs74315401	12682740	5621	PRNP	umls:C0017495	BeFree	Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease.	0.600051302	2003	PRNP	20	4699525	C	T
rs74315401	10851377	5621	PRNP	umls:C0017495	BeFree	Molecular genetic analysis of the PRNP gene showed the heterozygous codon P102L mutation of classic GSS, with the methionine encoding allele of a heterozygous codon 129 coupled to the mutant 102 allele.	0.600051302	2000	PRNP	20	4699525	C	T
rs74315401	9030710	5621	PRNP	umls:C0017495	BeFree	Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129.	0.600051302	1997	PRNP	20	4699525	C	T
rs74315401	15716520	5621	PRNP	umls:C0017495	BeFree	Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJD), two with dural graft associated CJD (dCJD), one with Gerstmann-Straussler-Scheinker disease (GSS) with a PrP P102L mutation (GSS102), and two with a P105L mutation (GSS105).	0.600051302	2005	PRNP	20	4699525	C	T
rs74315401	20154442	5621	PRNP	umls:C0017495	BeFree	A point mutation of the prion protein gene (PRNP) at codon 102 resulting in the substitution of proline by leucine (P102L) was identified.	0.600051302	2010	PRNP	20	4699525	C	T
rs74315401	2783132	5621	PRNP	umls:C0017495	BeFree	Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome.	0.600051302	1989	PRNP	20	4699525	C	T
rs74315401	10581259	5621	PRNP	umls:C0017495	BeFree	A mutation equivalent to P102L in the human PrP gene, associated with Gerstmann-Straussler syndrome (GSS), has been introduced into the murine PrP gene by gene targeting.	0.600051302	1999	PRNP	20	4699525	C	T
rs74315401	9813003	5621	PRNP	umls:C0017495	BeFree	The stability properties of the P102L variant were indistinguishable from those of wild-type PrP, whereas the E200K mutation resulted in a very small destabilization of the protein.	0.600051302	1998	PRNP	20	4699525	C	T
rs74315401	12200619	5621	PRNP	umls:C0017495	BeFree	Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia.	0.600051302	2002	PRNP	20	4699525	C	T
rs74315401	1685324	5621	PRNP	umls:C0017495	BeFree	Substitution of leucine for proline at codon 102 of the prion protein gene has been found in several families with the disease; this mutation is genetically linked to GSS.	0.600051302	1991	PRNP	20	4699525	C	T
rs74315401	23944754	5621	PRNP	umls:C0017495	BeFree	Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation.	0.600051302	2013	PRNP	20	4699525	C	T
rs74315402	24086135	5621	PRNP	umls:C0017495	BeFree	We conclude that GSS A117V is indeed a prion disease although the relative contributions of (Ctm)PrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established.	0.600051302	2013	PRNP	20	4699570	C	T
rs74315402	11087738	5621	PRNP	umls:C0017495	BeFree	A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Sträussler-Scheinker disease A117V.	0.600051302	2001	PRNP	20	4699570	C	T
rs74315402	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699570	C	T
rs74315402	19675240	5621	PRNP	umls:C0017495	BeFree	A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP.	0.600051302	2009	PRNP	20	4699570	C	T
rs74315405	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699813	T	C
rs74315405	12609901	5621	PRNP	umls:C0017495	BeFree	The F198S and E200K variants of PrP(23-231) differed in Cu(II) binding from the wild-type mPrP(23-231).	0.600051302	2003	PRNP	20	4699813	T	C
rs74315406	10970892	5621	PRNP	umls:C0017495	BeFree	We have now studied the folding and turnover of PrP32 to understand the mechanism by which abnormal PrP forms cause cellular toxicity in our cell culture model and in the human brain carrying the Gerstmann-Sträussler-Scheinker disease Q217R mutation.	0.600051302	2000	PRNP	20	4699870	A	G
rs74315406	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699870	A	G
rs74315410	11709001	5621	PRNP	umls:C0017495	BeFree	A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.	0.600051302	2001	PRNP	20	4699612	G	T
rs74315410	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699612	G	T
rs74315410	21760536	5621	PRNP	umls:C0017495	BeFree	A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.	0.600051302	2011	PRNP	20	4699612	G	T
rs74315413	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699780	A	G
rs74315414	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699533	C	A,T
rs74315415	NA	5621	PRNP	umls:C0017495	CLINVAR	NA	0.600051302	NA	PRNP	20	4699618	C	T

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	1446
Disease	gerstmann-straussler disease
Case	(Waiting for update.)