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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Prion Diseases (D017096)
..Starting node ..Gerstmann-Straussler-Scheinker Disease (D016098)
Child Nodes:
Sister Nodes:
..Amyloidosis, Cerebral, with Spongiform Encephalopathy (C535800)
..Creutzfeldt-Jakob Syndrome (D007562) 3
..Encephalopathy, Bovine Spongiform (D016643) 1
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Insomnia, Fatal Familial (D034062)
..Kuru (D007729)
..Scrapie (D012608)
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Wasting Disease, Chronic (D034081)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4581

Name:

Gerstmann-Straussler-Scheinker 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)

Alternative IDs:

OMIM:137440

ParentIDs:

MESH:D017096|MESH:D020271

TreeNumbers:

C10.228.228.800.350 |C10.574.500.425 |C10.574.843.400 |C16.320.400.350

Synonyms:

AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY |CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS |Disease, Gerstmann-Straussler |Diseases, Gerstmann-Straussler |Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type |Gerstma

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D016098
MeSH: D016098
OMIM: 137440;

Genes: PRNP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0000718	Aggressive behavior
4	HP:0002186	Apraxia
5	HP:0001284	Areflexia
6	HP:0002067	Bradykinesia
7	HP:0001272	Cerebellar atrophy
8	HP:0000726	Dementia
9	HP:0000716	Depression
10	HP:0001260	Dysarthria
11	HP:0000712	Emotional lability
12	HP:0002066	Gait ataxia
13	HP:0001347	Hyperreflexia
14	HP:0007772	Impaired smooth pursuit
15	HP:0002070	Limb ataxia
16	HP:0007340	Lower limb muscle weakness
17	HP:0002354	Memory impairment
18	HP:0001336	Myoclonus
19	HP:0002185	Neurofibrillary tangles
20	HP:0001300	Parkinsonism
21	HP:0030223	Perseveration
22	HP:0000751	Personality changes
23	HP:0003812	Phenotypic variability
24	HP:0000709	Psychosis
25	HP:0003678	Rapidly progressive
26	HP:0002063	Rigidity
27	HP:0001257	Spasticity
28	HP:0001337	Tremor
29	HP:0002078	Truncal ataxia
30	HP:0001824	Weight loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000311.3(PRNP):c.160_183GGTGGTGGCTGGGGGCAGCCTCAT(4) (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnG	5621	PRNP	Pathogenic	193922906	RCV000014326; RCV000014327; RCV000014328; RCV000020259;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006; MedGen:C0022336,OMIM:123400,ORPHA:204,SNOMED CT:792004; MedGen:C0162534; MedGen:C1864112,OMIM:603218,ORPHA:157941	20	4680026	4680049	NM_000311.3:c.160_183GGTGGTGGCTGGGGGCAGCCTCAT(4)	NP_000302.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyG		OMIM Allelic Variant:176640.0001	C0162534 Genetic prion diseases; C0017495 137440 Gerstmann-Straussler-Scheinker syndrome; C1864112 603218 Huntington disease-like 1; C0022336 123400 Jakob-Creutzfeldt disease
NM_000311.3(PRNP):c.305C>T (p.Pro102Leu)	5621	PRNP	Pathogenic	74315401	RCV000014329; RCV000020239;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006; MedGen:C0162534	20	4680171	4680171	NM_000311.3:c.305C>T	NP_000302.1:p.Pro102Leu	NC_000020.10:g.4680171C>T	OMIM Allelic Variant:176640.0002	C0162534 Genetic prion diseases; C0017495 137440 Gerstmann-Straussler-Scheinker syndrome
NM_000311.3(PRNP):c.313C>T (p.Pro105Ser)	5621	PRNP	Pathogenic	74315414	RCV000014357; RCV000020241;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006; MedGen:C0162534	20	4680179	4680179	NM_000311.3:c.313C>T	NP_000302.1:p.Pro105Ser	NC_000020.10:g.4680179C>A,NC_000020.10:g.4680179C>T	OMIM Allelic Variant:176640.0027	C0162534 Genetic prion diseases; C0017495 137440 Gerstmann-Straussler-Scheinker syndrome
NM_000311.3(PRNP):c.314C>T (p.Pro105Leu)	5621	PRNP	Pathogenic	11538758	RCV000014343; RCV000020242; RCV000190750;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006; MedGen:C0162534; MedGen:C0950123	20	4680180	4680180	NM_000311.3:c.314C>T	NP_000302.1:p.Pro105Leu	NC_000020.10:g.4680180C>T	OMIM Allelic Variant:176640.0015	C0162534 Genetic prion diseases; C0017495 137440 Gerstmann-Straussler-Scheinker syndrome; C0950123 Inborn genetic diseases
NM_000311.3(PRNP):c.350C>T (p.Ala117Val)	5621	PRNP	Pathogenic	74315402	RCV000014330; RCV000020243;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006; MedGen:C0162534	20	4680216	4680216	NM_000311.3:c.350C>T	NP_000302.1:p.Ala117Val	NC_000020.10:g.4680216C>T	OMIM Allelic Variant:176640.0004	C0162534 Genetic prion diseases; C0017495 137440 Gerstmann-Straussler-Scheinker syndrome
NM_000311.3(PRNP):c.392G>T (p.Gly131Val)	5621	PRNP	Pathogenic	74315410	RCV000014351;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006	20	4680258	4680258	NM_000311.3:c.392G>T	NP_000302.1:p.Gly131Val	NC_000020.10:g.4680258G>T	OMIM Allelic Variant:176640.0021	C0017495 137440 Gerstmann-Straussler-Scheinker syndrome
NM_000311.3(PRNP):c.398C>T (p.Ala133Val)	5621	PRNP	Pathogenic	74315415	RCV000014356;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006	20	4680264	4680264	NM_000311.3:c.398C>T	NP_000302.1:p.Ala133Val	NC_000020.10:g.4680264C>T	OMIM Allelic Variant:176640.0026	C0017495 137440 Gerstmann-Straussler-Scheinker syndrome
NM_000311.3(PRNP):c.560A>G (p.His187Arg)	5621	PRNP	Pathogenic	74315413	RCV000014353; RCV000014354; RCV000020251;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006; MedGen:C0162534; MedGen:C1847650,OMIM:606688	20	4680426	4680426	NM_000311.3:c.560A>G	NP_000302.1:p.His187Arg	NC_000020.10:g.4680426A>G	OMIM Allelic Variant:176640.0024	C0162534 Genetic prion diseases; C0017495 137440 Gerstmann-Straussler-Scheinker syndrome; C1847650 606688 Spongiform encephalopathy with neuropsychiatric features
NM_000311.3(PRNP):c.593T>C (p.Phe198Ser)	5621	PRNP	Pathogenic	74315405	RCV000014340; RCV000020252;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006; MedGen:C0162534	20	4680459	4680459	NM_000311.3:c.593T>C	NP_000302.1:p.Phe198Ser	NC_000020.10:g.4680459T>C	OMIM Allelic Variant:176640.0011	C0162534 Genetic prion diseases; C0017495 137440 Gerstmann-Straussler-Scheinker syndrome
NM_000311.3(PRNP):c.633G>C (p.Glu211Asp)	5621	PRNP	Pathogenic	398122413	RCV000074467;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006	20	4680499	4680499	NM_000311.3:c.633G>C	NP_000302.1:p.Glu211Asp	NC_000020.10:g.4680499G>C	OMIM Allelic Variant:176640.0029	C0017495 137440 Gerstmann-Straussler-Scheinker syndrome
NM_000311.3(PRNP):c.650A>G (p.Gln217Arg)	5621	PRNP	Pathogenic	74315406	RCV000014341; RCV000020256;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006; MedGen:C0162534	20	4680516	4680516	NM_000311.3:c.650A>G	NP_000302.1:p.Gln217Arg	NC_000020.10:g.4680516A>G	OMIM Allelic Variant:176640.0012	C0162534 Genetic prion diseases; C0017495 137440 Gerstmann-Straussler-Scheinker syndrome
NM_000311.3(PRNP):c.679C>T (p.Gln227Ter)	5621	PRNP	Pathogenic	17852079	RCV000074472;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006	20	4680545	4680545	NM_000311.3:c.679C>T	NP_000302.1:p.Gln227Ter	NC_000020.10:g.4680545C>T	OMIM Allelic Variant:176640.0034	C0017495 137440 Gerstmann-Straussler-Scheinker syndrome