MCID: GRS011
MIFTS: 46

Gerstmann-Straussler Disease malady

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

Aliases & Classifications for Gerstmann-Straussler Disease

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 46NINDS, 47Novoseek, 36MeSH, 65UMLS, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Gerstmann-Straussler Disease:

Name: Gerstmann-Straussler Disease 49 11 22 67
Gerstmann-Straussler-Scheinker Disease 10 45 22 46 47 67 36 65
Gerstmann-Straussler-Scheinker Syndrome 10 45 12 51
Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type 45 51
Amyloidosis, Cerebral, with Spongiform Encephalopathy 22 65
Gerstmann Straussler Scheinker Syndrome 45 24
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
 
Encephalopathy Subacute Spongiform Gerstmann-Straussler Type 45
Subacute Spongiform Encephalopathy Gerstmann-Straussler Type 67
Cerebral Amyloidosis with Spongiform Encephalopathy 67
Amyloidosis Cerebral with Spongiform Encephalopathy 45
Cerebral Amyloid Angiopathy, Prnp-Related 49
Gluthathione Synthetase Deficiency 65
Gssd 45
Gsd 67
Gss 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
gerstmann-straussler disease:
Onset and clinical course: phenotypic variability, rapidly progressive, adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 137440
Disease Ontology10 DOID:4249
ICD1027 A81.82
ICD9CM29 046.71
MeSH36 D016098
NCIt42 C84727
SNOMED-CT59 67155006
Orphanet51 356
MESH via Orphanet37 D016098
UMLS via Orphanet66 C0017495
ICD10 via Orphanet28 A81.8
MedGen34 C0017495
UMLS65 C0017495, C2931022, C0398746

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 glutathione synthetase deficiency and glycogen storage disease iv, and has symptoms including perseveration, impaired smooth pursuit and lower limb muscle weakness. An important gene associated with Gerstmann-Straussler Disease is PRNP (Prion Protein), and among its related pathways are Glypican 1 network and FoxO family signaling. Affiliated tissues include brain and eye, and related mouse phenotypes are normal and behavior/neurological.

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 132)
idRelated DiseaseScoreTop Affiliating Genes
1glutathione synthetase deficiency12.4
2glycogen storage disease iv11.9
3glycogen storage disease iiia11.8
4glycogen storage disease vii11.7
5glycogen storage disease, type ixa111.6
6hemolytic anemia11.6
7metabolic acidosis11.6
8glycogen storage disease 0, liver11.6
9glycogen storage disease type 011.6
10phosphorylase kinase deficiency11.5
11cystinosis11.5
12glycogen storage disease ii11.4
13mcardle disease11.4
14d-2-hydroxyglutaric aciduria11.4
15hemolytic anemia due to glutathione synthetase deficiency11.4
16anoxia11.4
17glycogen storage disease vi11.4
18glycogen storage disease due to muscle phosphorylase kinase deficiency11.4
19glycogen storage disease due to liver phosphorylase kinase deficiency11.4
20glycogen storage disease ia11.3
21glycogen storage disease ib11.3
22glycogen storage disease due to acid maltase deficiency11.3
23glycogen storage disease due to muscle glycogen phosphorylase deficiency11.3
24glycogen storage disease due to glycogen branching enzyme deficiency11.3
25glycogen storage disease due to muscle phosphofructokinase deficiency11.3
26glycogen storage disease due to liver glycogen phosphorylase deficiency11.3
27glycogen storage disease due to glucose-6-phosphatase deficiency11.3
28glycogen storage disease due to aldolase a deficiency11.3
29glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency11.3
30glycogen storage disease due to glut2 deficiency11.3
31glycogen storage disease due to acid maltase deficiency, infantile onset11.3
32glycogen storage disease due to acid maltase deficiency, late-onset11.3
33glycogen storage disease due to glucose-6-phosphatase deficiency type ia11.3
34glycogen storage disease due to liver and muscle phosphorylase kinase deficiency11.3
35glutathione synthetase deficiency with 5-oxoprolinuria11.3
36glutathione synthetase deficiency without 5-oxoprolinuria11.3
37congenital disorder of glycosylation, type it11.2
38glycogen storage disease xv11.2
39glycogen storage disease ic11.2
40glycogen storage disease ixc11.2
41danon disease11.2
42glycogen storage disease due to glycogen debranching enzyme deficiency11.2
43glycogen storage disease due to muscle and heart glycogen synthase deficiency11.2
44glycogen storage disease due to hepatic glycogen synthase deficiency11.2
45glycogen storage disease due to lactate dehydrogenase m-subunit deficiency11.2
46glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form11.2
47glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form11.2
48glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form11.2
49glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form11.2
50glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form11.2

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

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

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:00028738.2APP, C3, PRNP, SYP, THY1
2MP:00053867.6APP, C3, HMOX1, PRNP, SYP, VDAC1

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 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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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
1cytoplasmic vesicle membraneGO:00306599.5YWHAB, YWHAZ

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of sequence-specific DNA binding transcription factor activityGO:00434339.6HMOX1, PRNP
2response to oxidative stressGO:00069799.3APP, HMOX1, PRNP
3intrinsic apoptotic signaling pathwayGO:00971939.2YWHAB, YWHAZ

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