Gerstmann-Straussler Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Gerstmann-Straussler Disease

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50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Gerstmann-Straussler Disease:

Name: Gerstmann-Straussler Disease 50 23 68 12
Gerstmann-Straussler-Scheinker Disease 11 46 23 47 68 48 37 66
Gerstmann-Straussler-Scheinker Syndrome 11 46 13 52
Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type 46 52
Amyloidosis, Cerebral, with Spongiform Encephalopathy 23 66
Cerebral Amyloid Angiopathy, Prnp-Related 50 25
Gerstmann Straussler Scheinker Syndrome 46 25
Prion Dementia 11 68
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in the Central Nervous System 46
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns 68
Encephalopathy Subacute Spongiform Gerstmann-Straussler Type 46
Subacute Spongiform Encephalopathy Gerstmann-Straussler Type 68
Cerebral Amyloidosis with Spongiform Encephalopathy 68
Amyloidosis Cerebral with Spongiform Encephalopathy 46
Gluthathione Synthetase Deficiency 66
Gssd 46
Gsd 68
Gss 68


Orphanet epidemiological data:

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


gerstmann-straussler disease:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, rapidly progressive, phenotypic variability


External Ids:

OMIM50 137440
Disease Ontology11 DOID:4249
ICD1028 A81.82
ICD9CM30 046.71
MeSH37 D016098
NCIt43 C84727
SNOMED-CT60 67155006
Orphanet52 ORPHA356
MESH via Orphanet38 D016098
UMLS via Orphanet67 C0017495
ICD10 via Orphanet29 A81.8
MedGen35 C0017495

Summaries for Gerstmann-Straussler Disease

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OMIM:50 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 glutathione synthetase deficiency and glycogen storage disease iv, and has symptoms including cerebellar ataxia, cerebellar ataxia and muscle rigidity. An important gene associated with Gerstmann-Straussler Disease is PRNP (Prion Protein), and among its related pathways are Glypican 1 network and Neuroscience. Affiliated tissues include brain, cerebellum and eye, and related mouse phenotype reproductive system.

Disease Ontology:11 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:46 Gerstmann-straussler-scheinker disease (gss) is a type of prion disease. prion diseases are a group of conditions that affect the nervous system. the main feature of gss is a progressive degeneration of the cerebellum (a part of the brain that controls coordination, balance, equilibrium and muscle tone), as well as different degrees of dementia. signs and symptoms generally develop between ages 35 and 50 years and may include weakness in the legs, poor reflexes, abnormal sensations, 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 inheritance is autosomal dominant. 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: 7/11/2016

UniProtKB/Swiss-Prot:68 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.

NINDS:47 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.

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 66)
idRelated DiseaseScoreTop Affiliating Genes
1glutathione synthetase deficiency12.2
2glycogen storage disease iv11.9
3glycogen storage disease iiia11.5
4mcardle disease11.5
5glycogen storage disease vi11.5
6glycogen storage disease vii11.5
7glycogen storage disease 0, liver11.4
8glycogen storage disease, type ixa111.3
9glycogen storage disease type 011.2
10phosphorylase kinase deficiency11.2
11glycogen storage disease ii11.2
12metabolic acidosis11.2
13glycogen storage disease ia11.1
14hemolytic anemia due to glutathione synthetase deficiency11.1
15hemolytic anemia11.1
17fanconi-bickel syndrome11.1
18muscle glycogenosis11.1
19glycogen storage disease xv11.1
20glycogen storage disease due to liver phosphorylase kinase deficiency11.1
21d-2-hydroxyglutaric aciduria11.0
22congenital nonspherocytic hemolytic anemia11.0
23glucosephosphate dehydrogenase deficiency11.0
24glycogen storage disease xii11.0
25phosphorylase kinase deficiency of liver and muscle, autosomal recessive11.0
26glycogen storage disease x10.9
27glycogen storage disease ib10.9
28glycogen storage disease 0, muscle10.9
29danon disease10.9
30glycogen storage disease due to glycogen branching enzyme deficiency10.9
31glycogen storage disease due to glucose-6-phosphatase deficiency10.9
32glycogen storage disease due to acid maltase deficiency, infantile onset10.9
33glycogen storage disease due to acid maltase deficiency, late-onset10.9
34congenital disorder of glycosylation, type it10.9
35glycogen storage disease ic10.9
36glycogen storage disease ixc10.9
37glycogen storage disease xiii10.9
38glycogen storage disease of heart, lethal congenital10.7
39phosphoglycerate kinase 1 deficiency10.7
40lactate dehydrogenase b deficiency10.7
41phosphoglycerate mutase deficiency10.7
42phka2-related phosphorylase kinase deficiency10.7
43phkb-related phosphorylase kinase deficiency10.7
44phkg2-related phosphorylase kinase deficiency10.7
45glycogen storage disease due to lactate dehydrogenase deficiency10.7
46glycogen storage disease10.6
47creutzfeldt-jakob disease10.6
49prion disease10.4
50alagille syndrome10.3MSMB, PRNP

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:


Clinical features from OMIM:


HPO human phenotypes related to Gerstmann-Straussler Disease:

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

UMLS symptoms related to Gerstmann-Straussler Disease:

cerebellar ataxia, muscle rigidity, muscle spasticity, myoclonus, tremor, bradykinesia, personality change, ataxia, truncal, memory loss, gait ataxia, weakness of lower limb

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 Syndrome25
2 Cerebral Amyloid Angiopathy, Prnp-Related25
3 Gerstmann-Straussler-Scheinker Disease23 PRNP

Anatomical Context for Gerstmann-Straussler Disease

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MalaCards organs/tissues related to Gerstmann-Straussler Disease:

Brain, Cerebellum, Eye

Animal Models for Gerstmann-Straussler Disease or affiliated genes

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MGI Mouse Phenotypes related to Gerstmann-Straussler Disease:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1APP, C3, HMOX1, MSMB, 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:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Gerstmann-Straussler Disease:

5 (show all 12)
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.633G> C (p.Glu211Asp)single nucleotide variantPathogenicrs398122413GRCh37Chr 20, 4680499: 4680499
12PRNPNM_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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Pathways related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes

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
1membrane raftGO:00451218.7APP, PRNP, THY1, VDAC1
2membraneGO:00160207.9APP, HMOX1, PRNP, VDAC1, YWHAB
3extracellular exosomeGO:00700627.5APP, 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:000687810.0APP, PRNP
2negative regulation of T cell receptor signaling pathwayGO:00508609.9PRNP, THY1
3negative regulation of sequence-specific DNA binding transcription factor activityGO:00434339.6HMOX1, PRNP
4response to estrogenGO:00436279.3C3, HMOX1
5response to oxidative stressGO:00069799.0APP, HMOX1, PRNP

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

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:00198998.5APP, HMOX1, THY1, YWHAB

Sources for Gerstmann-Straussler Disease

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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet