GSSD
MCID: GRS002
MIFTS: 36

Gerstmann-Straussler-Scheinker Disease (GSSD) malady

Neuronal category

Summaries for Gerstmann-Straussler-Scheinker Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In the early stages, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include dysarthria (slurring of speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), and visual disturbances, sometimes leading to blindness. Deafness also can occur. In some families, parkinsonian features are present. GSS belongs to a family of human and animal diseases known as the (TSEs). Other TSEs include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia.

MalaCards: Gerstmann-Straussler-Scheinker Disease, also known as gerstmann straussler scheinker syndrome, is related to frontotemporal dementia and creutzfeldt-jakob syndrome. An important gene associated with Gerstmann-Straussler-Scheinker Disease is PRNP (prion protein), and among its related pathways are Glypican 1 network and p75(NTR)-mediated signaling. The compounds formate and ganglioside have been mentioned in the context of this disorder. Affiliated tissues include brain.

Disease Ontology:8 Gerstmann-straussler-scheinker disease is a prion disease where the disease is very rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age. this extremely rare disease is classified as a transmissible spongiform encephalopathy (tse).

NIH Rare Diseases:43 Gerstmann-straussler-scheinker disease is a neurodegenerative brain disorder which causes ataxia and dementia. it is almost always inherited and is found in only a few families around the world. onset of the disease usually occurs between the ages of 35 and 55. gerstmann-straussler-scheinker disease belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (tses) or prion diseases. other tses include creutzfeldt-jakob disease, kuru, and fatal familial insomnia. last updated: 7/22/2013

Wikipedia:64 Gerstmann–Sträussler–Scheinker syndrome (GSS) is a very rare, usually familial, fatal... more...

Description from OMIM:47 137440

Aliases & Classifications for Gerstmann-Straussler-Scheinker Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 49Orphanet, 9diseasecard, 47OMIM, 20GeneTests, 22GTR, 40NCIt, 35MeSH, 27ICD9CM, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
gerstmann-straussler-scheinker syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

gerstmann-straussler-scheinker disease 8 43 44 10 45 61
gerstmann straussler scheinker syndrome 43 20 22
gerstmann-straussler-scheinker syndrome 8 49
gerstmann-straussler disease 9 47
cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system 43
subacute spongiform encephalopathy, gerstmann-straussler type 49
encephalopathy subacute spongiform gerstmann-straussler type 43
amyloidosis cerebral with spongiform encephalopathy 43
gerstmann straussler syndrome 8
prion dementia 8
gssd 43


External Ids:

Disease Ontology8 DOID:4249
NCIt40 C84727
MeSH35 D016098
OMIM47 137440
ICD9CM27 046.71
SNOMED-CT57 67155006
MESH via Orphanet36 D016098
ICD10 via Orphanet26 A81.8
SNOMED-CT via Orphanet58 67155006
UMLS via Orphanet62 C0017495

Related Diseases for Gerstmann-Straussler-Scheinker Disease

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Gerstmann-Straussler-Scheinker Disease:



Diseases related to gerstmann-straussler-scheinker disease

Clinical Features for Gerstmann-Straussler-Scheinker Disease

Sources:
47OMIM
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Clinical features from OMIM:

137440

Clinical synopsis from OMIM:

137440

Drugs & Therapeutics for Gerstmann-Straussler-Scheinker Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Gerstmann-Straussler-Scheinker Disease

Drug clinical trials:

Search ClinicalTrials for Gerstmann-Straussler-Scheinker Disease

Search NIH Clinical Center for Gerstmann-Straussler-Scheinker Disease

Search CenterWatch for Gerstmann-Straussler-Scheinker Disease

Genetic Tests for Gerstmann-Straussler-Scheinker Disease

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20GeneTests, 22GTR
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Genetic tests related to Gerstmann-Straussler-Scheinker Disease:

id Genetic test Affiliating Genes
1 Gerstmann-straussler-scheinker Disease20 PRNP
2 Gerstmann-straussler-scheinker Syndrome22

Anatomical Context for Gerstmann-Straussler-Scheinker Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Gerstmann-Straussler-Scheinker Disease:

33
Brain

Animal Models for Gerstmann-Straussler-Scheinker Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Gerstmann-Straussler-Scheinker Disease

Sources:
51PubMed
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Articles related to Gerstmann-Straussler-Scheinker Disease:

(show all 18)
idTitleAuthorsYear
1
Gerstmann-Straussler-Scheinker disease and "anchorless Prion Protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease. (24398683)
2014
2
Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation. (21282596)
2011
3
Upregulation of micro RNA-146a (miRNA-146a), a marker for inflammatory neurodegeneration, in sporadic Creutzfeldt-Jakob disease (sCJD) and Gerstmann-Straussler-Scheinker (GSS) syndrome. (22043907)
2011
4
Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family. (19030774)
2008
5
Early abnormality of diffusion-weighted magnetic resonance imaging followed by brain atrophy in a case of Gerstmann-Straussler-Scheinker disease. (17353395)
2007
6
A prion disease--possible Gerstmann-Straussler-Scheinker disease: a case report. (16365589)
2006
7
Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein. (12970341)
2003
8
Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L. (11967261)
2002
9
A new PRNP mutation (G131V) associated with Gerstmann-Straussler- Scheinker disease. (11709001)
2001
10
Proton magnetic resonance spectroscopy of a patient with Gerstmann-Straussler-Scheinker disease. (11071439)
2000
11
Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity. (9786248)
1998
12
Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann- Straussler-Scheinker disease (PrP-P102L mutation). (8797472)
1996
13
Gerstmann-Straussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. (7783876)
1995
14
A variant of Gerstmann-Straussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study. (7699395)
1994
15
A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Straussler-Scheinker disease. (7902972)
1993
16
Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles. (1363810)
1992
17
Amyloid protein of Gerstmann-Straussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58. (1672107)
1991
18
The presence of complements in amyloid plaques of Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker disease. (6400466)
1984

Genetic Variations for Gerstmann-Straussler-Scheinker Disease

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Gerstmann-Straussler-Scheinker Disease:

63
id Symbol AA change Variation SNP ID
1PRNPp.Pro102LeuVAR_006464
2PRNPp.Pro105LeuVAR_006465
3PRNPp.Phe198SerVAR_006472
4PRNPp.Gln217ArgVAR_006476
5PRNPp.His187ArgVAR_008746
6PRNPp.Asp202AsnVAR_008750
7PRNPp.Gln212ProVAR_008753
8PRNPp.Gly131ValVAR_014264

Expression for genes affiliated with Gerstmann-Straussler-Scheinker Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gerstmann-Straussler-Scheinker Disease

Search GEO for disease gene expression data for Gerstmann-Straussler-Scheinker Disease.

Pathways for genes affiliated with Gerstmann-Straussler-Scheinker Disease

Sources:
38NCBI BioSystems Database
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Pathways related to Gerstmann-Straussler-Scheinker Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PRNP, APP
29.3YWHAE, APP

Compounds for genes affiliated with Gerstmann-Straussler-Scheinker Disease

Sources:
45Novoseek, 24HMDB
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Compounds related to Gerstmann-Straussler-Scheinker Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1formate459.5PRNP, APP
2ganglioside459.4PRNP, APP
3sodium dodecylsulfate459.3APP, PRNP
4valine459.3PRNP, APP
5copper45 2410.2PRNP, APP
6formaldehyde45 2410.0PRNP, APP
7glutamate458.6GSS, PRNP, APP

GO Terms for genes affiliated with Gerstmann-Straussler-Scheinker Disease

Sources:
16Gene Ontology
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Biological processes related to Gerstmann-Straussler-Scheinker Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to cadmium ionGO:0466869.1GSS, PRNP
2cellular copper ion homeostasisGO:0068789.0PRNP, APP
3response to oxidative stressGO:0069798.4GSS, PRNP, APP

Products for genes affiliated with Gerstmann-Straussler-Scheinker Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gerstmann-Straussler-Scheinker Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet