MCID: GRS011
MIFTS: 44

Gerstmann-Straussler Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Gerstmann-Straussler Disease

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 29ICD9CM, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Gerstmann-Straussler Disease:

Name: Gerstmann-Straussler Disease 49 11 22 67
Gerstmann-Straussler-Scheinker Disease 10 45 46 47 65 36 67
Gerstmann-Straussler-Scheinker Syndrome 10 12 51
Gerstmann Straussler Scheinker Syndrome 45 22 24
Amyloidosis Cerebral with Spongiform Encephalopathy 45 22
Prion Dementia 10 67
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in the Central Nervous System 45
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns 67
Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type 51
 
Encephalopathy Subacute Spongiform Gerstmann-Straussler Type 45
Subacute Spongiform Encephalopathy Gerstmann-Straussler Type 67
Amyloidosis, Cerebral, with Spongiform Encephalopathy 65
Cerebral Amyloidosis with Spongiform Encephalopathy 67
Cerebral Amyloid Angiopathy, Prnp-Related 49
Gluthathione Synthetase Deficiency 65
Gssd 45
Gss 67
Gsd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
gerstmann-straussler-scheinker syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult


External Ids:

OMIM49 137440
Disease Ontology10 DOID:4249
MeSH36 D016098
ICD9CM29 046.71
NCIt42 C84727
SNOMED-CT59 67155006
Orphanet51 356
ICD10 via Orphanet28 A81.8
MESH via Orphanet37 D016098
UMLS via Orphanet66 C0017495
MedGen34 C0017495

Summaries for Gerstmann-Straussler Disease

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OMIM:49 Gerstmann-Straussler disease is a rare inherited prion disease characterized by adult onset of memory loss, dementia,... (137440) more...

MalaCards based summary: Gerstmann-Straussler Disease, also known as gerstmann-straussler-scheinker disease, is related to eastern equine encephalitis and creutzfeldt-jakob disease, and has symptoms including autosomal dominant inheritance, psychosis and emotional lability. An important gene associated with Gerstmann-Straussler Disease is PRNP (Prion Protein), and among its related pathways are Glypican 1 network and Cell cycle Role of 14-3-3 proteins in cell cycle regulation. Affiliated tissues include brain and eye, and related mouse phenotype other.

Disease Ontology:10 A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.

NIH Rare Diseases:45 Gerstmann-straussler-scheinker disease (gss) is a type of prion disease, which is a group of conditions that affect the nervous system. signs and symptoms generally develop between ages 35 and 50 years and may include progressive ataxia, cognitive dysfunction, slurred speech and spasticity. on average, people affected by gss survive approximately 60 months (range 2 to 10 years) following diagnosis. it is caused by changes (mutations) in the prnp gene and is inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. for information on other prion diseases, please visit gard's creutzfeldt-jakob disease and fatal familial insomnia pages. last updated: 8/20/2015

NINDS:46 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.

UniProtKB/Swiss-Prot:67 Gerstmann-Straussler disease: A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years.

Related Diseases for Gerstmann-Straussler Disease

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Diseases related to Gerstmann-Straussler Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1eastern equine encephalitis29.6MICE, PRNP, THY1
2creutzfeldt-jakob disease10.7
3glutathione synthetase deficiency10.7
4dementia10.5
5prion disease10.5
6glycogen storage disease iv10.5
7glycogen storage disease iiia10.5
8glycogen storage disease10.4
9glycogen storage disease 0, liver10.4
10mcardle disease10.4
11glycogen storage disease vi10.3
12glycogen storage disease ii10.3
13glycogen storage disease type 010.3
14granulomatous slack skin disease10.3
15glycogen storage disease vii10.3
16glycogen storage disease ia10.3
17glycogen storage disease, type ixa110.3
18glycogen storage disease due to muscle phosphorylase kinase deficiency10.3
19glycogen storage disease due to liver phosphorylase kinase deficiency10.3
205-oxoprolinase deficiency10.2
21hemolytic anemia due to glutathione synthetase deficiency10.2
22glycogen storage disease ib10.2
23phosphorylase kinase deficiency10.2
24glycogen storage disease due to glycogenin deficiency10.2
25glycogen storage disease due to liver and muscle phosphorylase kinase deficiency10.2
26intravascular angioleiomyoma10.2PRNP, YWHAZ
27harp syndrome10.2PRNP, YWHAZ
28posterior cortical atrophy10.1
293mc syndrome10.1PRNP, YWHAZ
30congenital disorder of glycosylation, type it10.1
31glycogen storage disease xv10.1
32glycogen storage disease ic10.1
33glycogen storage disease ixc10.1
34danon disease10.1
35glycogen storage disease due to acid maltase deficiency10.1
36glycogen storage disease due to glycogen debranching enzyme deficiency10.1
37glycogen storage disease due to muscle glycogen phosphorylase deficiency10.1
38glycogen storage disease due to glycogen branching enzyme deficiency10.1
39glycogen storage disease due to muscle phosphofructokinase deficiency10.1
40glycogen storage disease due to liver glycogen phosphorylase deficiency10.1
41glycogen storage disease due to glucose-6-phosphatase deficiency10.1
42glycogen storage disease due to aldolase a deficiency10.1
43glycogen storage disease due to muscle and heart glycogen synthase deficiency10.1
44glycogen storage disease due to hepatic glycogen synthase deficiency10.1
45glycogen storage disease due to lactate dehydrogenase m-subunit deficiency10.1
46glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form10.1
47glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form10.1
48glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form10.1
49glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form10.1
50glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form10.1

Graphical network of the top 20 diseases related to Gerstmann-Straussler Disease:



Diseases related to gerstmann-straussler disease

Symptoms for Gerstmann-Straussler Disease

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Symptoms by clinical synopsis from OMIM:

137440

Clinical features from OMIM:

137440

HPO human phenotypes related to Gerstmann-Straussler Disease:

(show all 30)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 psychosis HP:0000709
3 emotional lability HP:0000712
4 depression HP:0000716
5 aggressive behavior HP:0000718
6 dementia HP:0000726
7 personality changes HP:0000751
8 spasticity HP:0001257
9 dysarthria HP:0001260
10 cerebellar atrophy HP:0001272
11 areflexia HP:0001284
12 parkinsonism HP:0001300
13 myoclonus HP:0001336
14 tremor HP:0001337
15 hyperreflexia HP:0001347
16 weight loss HP:0001824
17 rigidity HP:0002063
18 gait ataxia HP:0002066
19 bradykinesia HP:0002067
20 limb ataxia HP:0002070
21 truncal ataxia HP:0002078
22 neurofibrillary tangles HP:0002185
23 apraxia HP:0002186
24 memory impairment HP:0002354
25 adult onset HP:0003581
26 rapidly progressive HP:0003678
27 phenotypic variability HP:0003812
28 lower limb muscle weakness HP:0007340
29 impaired smooth pursuit HP:0007772
30 perseveration HP:0030223

Drugs & Therapeutics for Gerstmann-Straussler Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Gerstmann-Straussler Disease


Cochrane evidence based reviews: Gerstmann-Straussler-Scheinker Disease

Genetic Tests for Gerstmann-Straussler Disease

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Genetic tests related to Gerstmann-Straussler Disease:

id Genetic test Affiliating Genes
1 Gerstmann-Straussler-Scheinker Disease22 PRNP
2 Gerstmann-Straussler-Scheinker Syndrome24

Anatomical Context for Gerstmann-Straussler Disease

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MalaCards organs/tissues related to Gerstmann-Straussler Disease:

33
Brain, Eye

Animal Models for Gerstmann-Straussler Disease or affiliated genes

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MGI Mouse Phenotypes related to Gerstmann-Straussler Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3APP, C3, PRNP

Publications for Gerstmann-Straussler Disease

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Variations for Gerstmann-Straussler Disease

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UniProtKB/Swiss-Prot genetic disease variations for Gerstmann-Straussler Disease:

67
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Gerstmann-Straussler Disease:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP)NT expansionPathogenicrs193922906GRCh37Chr 20, 4680026: 4680049
2PRNPNM_000311.3(PRNP): c.305C> T (p.Pro102Leu)single nucleotide variantPathogenicrs74315401GRCh37Chr 20, 4680171: 4680171
3PRNPNM_000311.3(PRNP): c.350C> T (p.Ala117Val)single nucleotide variantPathogenicrs74315402GRCh37Chr 20, 4680216: 4680216
4PRNPNM_000311.3(PRNP): c.593T> C (p.Phe198Ser)single nucleotide variantPathogenicrs74315405GRCh37Chr 20, 4680459: 4680459
5PRNPNM_000311.3(PRNP): c.650A> G (p.Gln217Arg)single nucleotide variantPathogenicrs74315406GRCh37Chr 20, 4680516: 4680516
6PRNPNM_000311.3(PRNP): c.314C> T (p.Pro105Leu)single nucleotide variantPathogenicrs11538758GRCh37Chr 20, 4680180: 4680180
7PRNPNM_000311.3(PRNP): c.392G> T (p.Gly131Val)single nucleotide variantPathogenicrs74315410GRCh37Chr 20, 4680258: 4680258
8PRNPNM_000311.3(PRNP): c.560A> G (p.His187Arg)single nucleotide variantPathogenicrs74315413GRCh37Chr 20, 4680426: 4680426
9PRNPNM_000311.3(PRNP): c.398C> T (p.Ala133Val)single nucleotide variantPathogenicrs74315415GRCh37Chr 20, 4680264: 4680264
10PRNPNM_000311.3(PRNP): c.313C> T (p.Pro105Ser)single nucleotide variantPathogenicrs74315414GRCh37Chr 20, 4680179: 4680179
11PRNPNM_000311.3(PRNP): c.435T> G (p.Tyr145Ter)single nucleotide variantPathogenicrs80356710GRCh37Chr 20, 4680301: 4680301
12PRNPNM_000311.3(PRNP): c.478C> T (p.Gln160Ter)single nucleotide variantPathogenicrs80356711GRCh37Chr 20, 4680344: 4680344
13PRNPNM_000311.3(PRNP): c.633G> C (p.Glu211Asp)single nucleotide variantPathogenicrs398122413GRCh37Chr 20, 4680499: 4680499
14PRNPNM_000311.3(PRNP): c.679C> T (p.Gln227Ter)single nucleotide variantPathogenicrs17852079GRCh37Chr 20, 4680545: 4680545

Expression for genes affiliated with Gerstmann-Straussler Disease

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

Pathways for genes affiliated with Gerstmann-Straussler Disease

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GO Terms for genes affiliated with Gerstmann-Straussler Disease

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Cellular components related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1focal adhesionGO:00059259.4THY1, YWHAB, YWHAZ
2membrane raftGO:00451218.3APP, PRNP, THY1, VDAC1
3extracellular exosomeGO:00700627.2APP, C3, PRNP, THY1, VDAC1, YWHAB

Biological processes related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:000687810.1APP, PRNP
2negative regulation of T cell receptor signaling pathwayGO:005086010.1PRNP, THY1
3protein targetingGO:000660510.0YWHAB, YWHAZ
4positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathwayGO:19007409.9YWHAB, YWHAZ
5intrinsic apoptotic signaling pathwayGO:00971939.3YWHAB, YWHAZ
6membrane organizationGO:00610249.2APP, YWHAB, YWHAZ

Molecular functions related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:00199019.1THY1, VDAC1, YWHAZ
2enzyme bindingGO:00198999.0APP, THY1, YWHAB

Sources for Gerstmann-Straussler Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet