MCID: GRS011
MIFTS: 42

Gerstmann-Straussler Disease malady

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

Aliases & Classifications for Gerstmann-Straussler Disease

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Gerstmann-Straussler Disease:

Name: Gerstmann-Straussler Disease 52 24 70 12
Gerstmann-Straussler-Scheinker Disease 11 48 24 49 70 50 39 68
Gerstmann-Straussler-Scheinker Syndrome 11 48 54 13
Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type 48 54
Amyloidosis, Cerebral, with Spongiform Encephalopathy 24 68
Gerstmann Straussler Scheinker Syndrome 48 27
Prion Dementia 11 70
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in the Central Nervous System 48
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns 70
 
Encephalopathy Subacute Spongiform Gerstmann-Straussler Type 48
Subacute Spongiform Encephalopathy Gerstmann-Straussler Type 70
Cerebral Amyloidosis with Spongiform Encephalopathy 70
Amyloidosis Cerebral with Spongiform Encephalopathy 48
Cerebral Amyloid Angiopathy, Prnp-Related 52
Gluthathione Synthetase Deficiency 68
Gssd 48
Gsd 70
Gss 70

Characteristics:

Orphanet epidemiological data:

54
gerstmann-straussler-scheinker syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult

HPO:

64
gerstmann-straussler disease:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, rapidly progressive, phenotypic variability

Classifications:



External Ids:

OMIM52 137440
Disease Ontology11 DOID:4249
ICD1030 A81.82
ICD9CM32 046.71
MeSH39 D016098
NCIt45 C84727
SNOMED-CT62 67155006
Orphanet54 ORPHA356
MESH via Orphanet40 D016098
UMLS via Orphanet69 C0017495
ICD10 via Orphanet31 A81.8
MedGen37 C0017495

Summaries for Gerstmann-Straussler Disease

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OMIM:52 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 weakness of lower limb, weakness of lower limb and gait ataxia. 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.

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:48 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

NINDS:49 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

UniProtKB/Swiss-Prot:70 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1glutathione synthetase deficiency12.1
2glycogen storage disease iv12.0
3glycogen storage disease iiia11.7
4glycogen storage disease 0, liver11.6
5glycogen storage disease vi11.6
6mcardle disease11.5
7glycogen storage disease type 011.5
8glycogen storage disease vii11.5
9glycogen storage disease, type ixa111.4
10phosphorylase kinase deficiency11.3
11glycogen storage disease11.1
12hemolytic anemia11.1
13metabolic acidosis11.1
14glycogen storage disease ii11.1
15glycogen storage disease ia11.0
16hemolytic anemia due to glutathione synthetase deficiency11.0
17cystinosis11.0
18fanconi-bickel syndrome11.0
19muscle glycogenosis11.0
205-oxoprolinase deficiency10.9
21glycogen storage disease xv10.9
22glycogen storage disease due to liver phosphorylase kinase deficiency10.9
23d-2-hydroxyglutaric aciduria10.9
24glycogen storage disease xii10.9
25phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.9
26glycogen storage disease x10.8
27glycogen storage disease ib10.8
28glycogen storage disease 0, muscle10.8
29danon disease10.8
30glycogen storage disease due to glycogen branching enzyme deficiency10.8
31glycogen storage disease due to glucose-6-phosphatase deficiency10.8
32glycogen storage disease due to acid maltase deficiency, infantile onset10.8
33glycogen storage disease due to acid maltase deficiency, late-onset10.8
34granulomatous slack skin disease10.8
35congenital disorder of glycosylation, type it10.7
36glycogen storage disease ic10.7
37glycogen storage disease ixc10.7
38glycogen storage disease xiii10.7
39glycogen storage disease of heart, lethal congenital10.6
40phosphoglycerate kinase 1 deficiency10.6
41lactate dehydrogenase b deficiency10.6
42phosphoglycerate mutase deficiency10.6
43phka2-related phosphorylase kinase deficiency10.6
44phkb-related phosphorylase kinase deficiency10.6
45phkg2-related phosphorylase kinase deficiency10.6
46glycogen storage disease due to lactate dehydrogenase deficiency10.6
47creutzfeldt-jakob disease10.4
48alagille syndrome10.3MSMB, PRNP
49diabetes insipidus, neurohypophyseal10.3MSMB, PRNP
50dementia10.3

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



Diseases related to gerstmann-straussler disease

Symptoms & Phenotypes for Gerstmann-Straussler Disease

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Symptoms by clinical synopsis from OMIM:

137440

Clinical features from OMIM:

137440

Human phenotypes related to Gerstmann-Straussler Disease:

 64 (show all 26)
id Description HPO Frequency HPO Source Accession
1 psychosis64 HP:0000709
2 emotional lability64 HP:0000712
3 depression64 HP:0000716
4 aggressive behavior64 HP:0000718
5 dementia64 HP:0000726
6 personality changes64 HP:0000751
7 spasticity64 HP:0001257
8 dysarthria64 HP:0001260
9 cerebellar atrophy64 HP:0001272
10 areflexia64 HP:0001284
11 parkinsonism64 HP:0001300
12 myoclonus64 HP:0001336
13 tremor64 HP:0001337
14 hyperreflexia64 HP:0001347
15 weight loss64 HP:0001824
16 rigidity64 HP:0002063
17 gait ataxia64 HP:0002066
18 bradykinesia64 HP:0002067
19 limb ataxia64 HP:0002070
20 truncal ataxia64 HP:0002078
21 neurofibrillary tangles64 HP:0002185
22 apraxia64 HP:0002186
23 memory impairment64 HP:0002354
24 lower limb muscle weakness64 HP:0007340
25 impaired smooth pursuit64 HP:0007772
26 perseveration64 HP:0030223

UMLS symptoms related to Gerstmann-Straussler Disease:


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

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 Syndrome27
2 Gerstmann-Straussler-Scheinker Disease24 PRNP

Anatomical Context for Gerstmann-Straussler Disease

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MalaCards organs/tissues related to Gerstmann-Straussler Disease:

36
Brain, Cerebellum, Eye

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:

70
id Symbol AA change Variation ID SNP ID
1PRNPp.Pro102LeuVAR_006464rs74315401
2PRNPp.Pro105LeuVAR_006465rs11538758
3PRNPp.Phe198SerVAR_006472rs74315405
4PRNPp.Gln217ArgVAR_006476rs74315406
5PRNPp.His187ArgVAR_008746rs74315413
6PRNPp.Asp202AsnVAR_008750rs761807915
7PRNPp.Gln212ProVAR_008753rs751882709
8PRNPp.Gly131ValVAR_014264rs74315410

Clinvar genetic disease variations for Gerstmann-Straussler Disease:

5 (show all 18)
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)SNVPathogenicrs74315401GRCh37Chr 20, 4680171: 4680171
3PRNPNM_000311.3(PRNP): c.350C> T (p.Ala117Val)SNVPathogenicrs74315402GRCh37Chr 20, 4680216: 4680216
4PRNPNM_000311.3(PRNP): c.593T> C (p.Phe198Ser)SNVPathogenicrs74315405GRCh37Chr 20, 4680459: 4680459
5PRNPNM_000311.3(PRNP): c.650A> G (p.Gln217Arg)SNVPathogenicrs74315406GRCh37Chr 20, 4680516: 4680516
6PRNPNM_000311.3(PRNP): c.314C> T (p.Pro105Leu)SNVPathogenicrs11538758GRCh37Chr 20, 4680180: 4680180
7PRNPNM_000311.3(PRNP): c.392G> T (p.Gly131Val)SNVPathogenicrs74315410GRCh37Chr 20, 4680258: 4680258
8PRNPNM_000311.3(PRNP): c.560A> G (p.His187Arg)SNVPathogenicrs74315413GRCh37Chr 20, 4680426: 4680426
9PRNPNM_000311.3(PRNP): c.398C> T (p.Ala133Val)SNVPathogenicrs74315415GRCh37Chr 20, 4680264: 4680264
10PRNPNM_000311.3(PRNP): c.313C> T (p.Pro105Ser)SNVPathogenicrs74315414GRCh37Chr 20, 4680179: 4680179
11GSSNM_000178.3(GSS): c.491G> A (p.Arg164Gln)SNVPathogenicrs121909307GRCh37Chr 20, 33530291: 33530291
12GSSGSS, 1-BP DEL, NT3/4GdeletionPathogenicChr na, -1: -1
13GSSNM_000178.3(GSS): c.799C> T (p.Arg267Trp)SNVPathogenicrs121909308GRCh37Chr 20, 33523414: 33523414
14GSSNM_000178.3(GSS): c.847C> T (p.Arg283Cys)SNVPathogenicrs121909309GRCh37Chr 20, 33519924: 33519924
15GSSNM_000178.3(GSS): c.373C> T (p.Arg125Cys)SNVPathogenicrs28936396GRCh37Chr 20, 33530409: 33530409
16GSSNM_000178.3(GSS): c.941C> T (p.Pro314Leu)SNVPathogenicrs75863437GRCh37Chr 20, 33519830: 33519830
17PRNPNM_000311.3(PRNP): c.633G> C (p.Glu211Asp)SNVPathogenicrs398122413GRCh37Chr 20, 4680499: 4680499
18PRNPNM_000311.3(PRNP): c.679C> T (p.Gln227Ter)SNVPathogenicrs17852079GRCh37Chr 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
19.8APP, PRNP
28.6APP, PRNP, SYP, THY1

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
1terminal boutonGO:00431959.4APP, SYP
2membrane raftGO:00451218.9APP, PRNP, THY1, VDAC1
3extracellular exosomeGO:00700628.1APP, C3, GSS, PRNP, THY1, VDAC1
4membraneGO:00160208.1APP, HMOX1, PRNP, SYP, VDAC1, YWHAB

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

idNameGO IDScoreTop Affiliating Genes
1response to cadmium ionGO:004668610.4GSS, PRNP
2cellular copper ion homeostasisGO:000687810.4APP, PRNP
3negative regulation of sequence-specific DNA binding transcription factor activityGO:004343310.2HMOX1, PRNP
4negative regulation of T cell receptor signaling pathwayGO:005086010.2PRNP, THY1
5response to oxidative stressGO:00069798.9APP, GSS, HMOX1, PRNP

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

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:00198999.5APP, HMOX1, THY1, YWHAB
2protein bindingGO:00055155.8APP, C3, GSS, HMOX1, MSMB, PRNP

Sources for Gerstmann-Straussler Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet