MCID: GRS011
MIFTS: 29

Gerstmann-Straussler Disease malady

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

Summaries for Gerstmann-Straussler Disease

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OMIM:45 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 creutzfeldt-jakob disease and prion disease, and has symptoms including autosomal dominant inheritance, psychosis and emotional lability. An important gene associated with Gerstmann-Straussler Disease is PRNP (prion protein). Affiliated tissues include brain and eye.

Disease Ontology:9 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:41 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

NINDS:42 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.

Aliases & Classifications for Gerstmann-Straussler Disease

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Sources:
45OMIM, 10diseasecard, 9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 42NINDS, 11DISEASES, 43Novoseek, 60UMLS, 20GeneTests, 22GTR, 55SNOMED-CT, 27ICD9CM, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Gerstmann-Straussler Disease, Aliases & Descriptions:

Name: Gerstmann-Straussler Disease 45 10
Gerstmann-Straussler-Scheinker Disease 9 41 42 11 43 60
Gerstmann-Straussler-Scheinker Syndrome 9 41 47
Gerstmann Straussler Scheinker Syndrome 41 20 22
Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type 41 47
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in the Central Nervous System 41
Encephalopathy Subacute Spongiform Gerstmann-Straussler Type 41
 
Amyloidosis, Cerebral, with Spongiform Encephalopathy 60
Amyloidosis Cerebral with Spongiform Encephalopathy 41
Cerebral Amyloid Angiopathy, Prnp-Related 45
Gluthathione Synthetase Deficiency 60
Prion Dementia 9
Gssd 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

47
gerstmann-straussler-scheinker syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult


External Ids:

OMIM45 137440
Disease Ontology9 DOID:4249
ICD9CM27 046.71
NCIt38 C84727
MeSH33 D016098
SNOMED-CT55 67155006
Orphanet47 356
MESH via Orphanet34 D016098
ICD10 via Orphanet26 A81.8
UMLS via Orphanet61 C0017495

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:

idRelated DiseaseScoreTop Affiliating Genes
1creutzfeldt-jakob disease10.8
2prion disease10.5
3dementia10.1
4posterior cortical atrophy10.1

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 29)
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

Drugs & Therapeutics for Gerstmann-Straussler Disease

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Drug clinical trials:

Search ClinicalTrials for Gerstmann-Straussler Disease

Search NIH Clinical Center for Gerstmann-Straussler 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 Disease20 PRNP
2 Gerstmann-Straussler-Scheinker Syndrome22

Anatomical Context for Gerstmann-Straussler Disease

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MalaCards organs/tissues related to Gerstmann-Straussler Disease:

31
Brain, Eye

Animal Models for Gerstmann-Straussler Disease or affiliated genes

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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:

62
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:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP)NT expansionPathogenicrs367543047
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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Compounds for genes affiliated with Gerstmann-Straussler Disease

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GO Terms for genes affiliated with Gerstmann-Straussler Disease

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Products for genes affiliated with Gerstmann-Straussler Disease

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Sources for Gerstmann-Straussler Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet