GSD
MCID: GRS011
MIFTS: 42

Gerstmann-Straussler Disease (GSD) malady

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

Aliases & Classifications for Gerstmann-Straussler Disease

Aliases & Descriptions for Gerstmann-Straussler Disease:

Name: Gerstmann-Straussler Disease 54 24 66 13
Gerstmann-Straussler-Scheinker Disease 12 50 24 51 66 52 42 69
Gerstmann-Straussler-Scheinker Syndrome 12 50 56 14
Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type 50 56
Amyloidosis, Cerebral, with Spongiform Encephalopathy 24 69
Gerstmann Straussler Scheinker Syndrome 50 29
Prion Dementia 12 66
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in the Central Nervous System 50
Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns 66
Encephalopathy Subacute Spongiform Gerstmann-Straussler Type 50
Subacute Spongiform Encephalopathy Gerstmann-Straussler Type 66
Amyloidosis Cerebral with Spongiform Encephalopathy 50
Cerebral Amyloidosis with Spongiform Encephalopathy 66
Cerebral Amyloid Angiopathy, Prnp-Related 54
Gluthathione Synthetase Deficiency 69
Gssd 50
Gss 66
Gsd 66

Characteristics:

Orphanet epidemiological data:

56
gerstmann-straussler-scheinker syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

HPO:

32
gerstmann-straussler disease:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability adult onset rapidly progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 137440
Disease Ontology 12 DOID:4249
ICD10 33 A81.82
ICD9CM 35 046.71
MeSH 42 D016098
NCIt 47 C84727
SNOMED-CT 64 67155006
Orphanet 56 ORPHA356
MESH via Orphanet 43 D016098
UMLS via Orphanet 70 C0017495
ICD10 via Orphanet 34 A81.8
MedGen 40 C0017495
UMLS 69 C0017495

Summaries for Gerstmann-Straussler Disease

OMIM : 54 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 myoclonus, tremor and bradykinesia. An important gene associated with Gerstmann-Straussler Disease is PRNP (Prion Protein), and among its related pathways/superpathways are Neuroscience and Copper homeostasis. Affiliated tissues include brain, eye and cerebellum.

NIH Rare Diseases : 50 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 : 66 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 : 51 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.

Disease Ontology : 12 A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.

Related Diseases for Gerstmann-Straussler Disease

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

(show top 50) (show all 69)
id Related Disease Score Top Affiliating Genes
1 glutathione synthetase deficiency 12.1
2 glycogen storage disease iv 12.0
3 glycogen storage disease iiia 11.7
4 glycogen storage disease 0, liver 11.6
5 glycogen storage disease vi 11.6
6 mcardle disease 11.5
7 glycogen storage disease type 0 11.5
8 glycogen storage disease vii 11.5
9 glycogen storage disease, type ixa1 11.4
10 phosphorylase kinase deficiency 11.3
11 muscle glycogenosis 11.1
12 glycogen storage disease 11.1
13 hemolytic anemia 11.1
14 metabolic acidosis 11.1
15 hemolytic anemia due to glutathione synthetase deficiency 11.1
16 glycogen storage disease ii 11.1
17 cystinosis 11.1
18 granulomatous slack skin disease 11.0
19 phosphorylase kinase deficiency of liver and muscle, autosomal recessive 11.0
20 glycogen storage disease ia 11.0
21 d-2-hydroxyglutaric aciduria 11.0
22 fanconi-bickel syndrome 11.0
23 5-oxoprolinase deficiency 10.9
24 glycogen storage disease xv 10.9
25 glycogen storage disease due to liver phosphorylase kinase deficiency 10.9
26 glycogen storage disease xii 10.9
27 glycogen storage disease ixc 10.9
28 glycogen storage disease due to glycogen branching enzyme deficiency 10.8
29 glycogen storage disease 0, muscle 10.8
30 glycogen storage disease due to glucose-6-phosphatase deficiency 10.8
31 glycogen storage disease x 10.8
32 glycogen storage disease due to acid maltase deficiency, infantile onset 10.8
33 glycogen storage disease due to acid maltase deficiency, late-onset 10.8
34 glycogen storage disease ib 10.8
35 danon disease 10.8
36 congenital disorder of glycosylation, type it 10.7
37 glycogen storage disease xiii 10.7
38 glycogen storage disease ixa 10.7
39 glycogen storage disease ic 10.7
40 phkg2-related phosphorylase kinase deficiency 10.6
41 glycogen storage disease due to lactate dehydrogenase deficiency 10.6
42 glycogen storage disease of heart, lethal congenital 10.6
43 phosphoglycerate kinase 1 deficiency 10.6
44 phosphoglycerate mutase deficiency 10.6
45 lactate dehydrogenase b deficiency 10.6
46 phka2-related phosphorylase kinase deficiency 10.6
47 phkb-related phosphorylase kinase deficiency 10.6
48 creutzfeldt-jakob disease 10.4
49 ataxia 10.3
50 cerebellar ataxia 10.3

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



Diseases related to Gerstmann-Straussler Disease

Symptoms & Phenotypes for Gerstmann-Straussler Disease

Symptoms by clinical synopsis from OMIM:

137440

Clinical features from OMIM:

137440

Human phenotypes related to Gerstmann-Straussler Disease:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 tremor 32 HP:0001337
3 bradykinesia 32 HP:0002067
4 personality changes 32 HP:0000751
5 gait ataxia 32 HP:0002066
6 lower limb muscle weakness 32 HP:0007340
7 emotional lability 32 HP:0000712
8 depression 32 HP:0000716
9 spasticity 32 HP:0001257
10 dysarthria 32 HP:0001260
11 hyperreflexia 32 HP:0001347
12 weight loss 32 HP:0001824
13 limb ataxia 32 HP:0002070
14 memory impairment 32 HP:0002354
15 rigidity 32 HP:0002063
16 psychosis 32 HP:0000709
17 apraxia 32 HP:0002186
18 dementia 32 HP:0000726
19 areflexia 32 HP:0001284
20 aggressive behavior 32 HP:0000718
21 cerebellar atrophy 32 HP:0001272
22 parkinsonism 32 HP:0001300
23 perseveration 32 HP:0030223
24 truncal ataxia 32 HP:0002078
25 impaired smooth pursuit 32 HP:0007772
26 neurofibrillary tangles 32 HP:0002185

UMLS symptoms related to Gerstmann-Straussler Disease:


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

Drugs & Therapeutics for Gerstmann-Straussler Disease

Search Clinical Trials , NIH Clinical Center for Gerstmann-Straussler Disease

Cochrane evidence based reviews: gerstmann-straussler-scheinker disease

Genetic Tests for Gerstmann-Straussler Disease

Genetic tests related to Gerstmann-Straussler Disease:

id Genetic test Affiliating Genes
1 Gerstmann-Straussler-Scheinker Syndrome 29
2 Gerstmann-Straussler-Scheinker Disease 24 PRNP

Anatomical Context for Gerstmann-Straussler Disease

MalaCards organs/tissues related to Gerstmann-Straussler Disease:

39
Brain, Eye, Cerebellum

Publications for Gerstmann-Straussler Disease

Variations for Gerstmann-Straussler Disease

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

66
id Symbol AA change Variation ID SNP ID
1 PRNP p.Pro102Leu VAR_006464 rs74315401
2 PRNP p.Pro105Leu VAR_006465 rs11538758
3 PRNP p.Phe198Ser VAR_006472 rs74315405
4 PRNP p.Gln217Arg VAR_006476 rs74315406
5 PRNP p.His187Arg VAR_008746 rs74315413
6 PRNP p.Asp202Asn VAR_008750 rs761807915
7 PRNP p.Gln212Pro VAR_008753 rs751882709
8 PRNP p.Gly131Val VAR_014264 rs74315410

ClinVar genetic disease variations for Gerstmann-Straussler Disease:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh37 Chromosome 20, 4680026: 4680049
2 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh37 Chromosome 20, 4680171: 4680171
3 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh37 Chromosome 20, 4680216: 4680216
4 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh37 Chromosome 20, 4680459: 4680459
5 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh37 Chromosome 20, 4680516: 4680516
6 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh37 Chromosome 20, 4680180: 4680180
7 PRNP NM_000311.4(PRNP): c.392G> T (p.Gly131Val) single nucleotide variant Pathogenic rs74315410 GRCh37 Chromosome 20, 4680258: 4680258
8 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh37 Chromosome 20, 4680426: 4680426
9 PRNP NM_000311.4(PRNP): c.398C> T (p.Ala133Val) single nucleotide variant Pathogenic rs74315415 GRCh37 Chromosome 20, 4680264: 4680264
10 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
11 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh37 Chromosome 20, 4680301: 4680301
12 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh37 Chromosome 20, 4680344: 4680344
13 PRNP NM_000311.4(PRNP): c.633G> C (p.Glu211Asp) single nucleotide variant Pathogenic rs398122413 GRCh37 Chromosome 20, 4680499: 4680499
14 PRNP NM_000311.4(PRNP): c.678C> A (p.Tyr226Ter) single nucleotide variant Pathogenic rs398122414 GRCh37 Chromosome 20, 4680544: 4680544
15 PRNP NM_000311.4(PRNP): c.679C> T (p.Gln227Ter) single nucleotide variant Pathogenic rs17852079 GRCh37 Chromosome 20, 4680545: 4680545
16 PRNP PRNP, TYR163TER undetermined variant Pathogenic

Expression for Gerstmann-Straussler Disease

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

Pathways for Gerstmann-Straussler Disease

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

id Super pathways Score Top Affiliating Genes
1 11.77 APP PRNP SYP THY1
2 10.99 APP PRNP
3 10.57 APP PRNP
4 10.4 GSS HMOX1 PRNP

GO Terms for Gerstmann-Straussler Disease

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.7 APP C3 GSS PRNP THY1 VDAC1
2 neuromuscular junction GO:0031594 9.26 APP SYP
3 anchored component of external side of plasma membrane GO:0031362 8.96 PRNP THY1
4 membrane raft GO:0045121 8.92 APP PRNP THY1 VDAC1

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

id Name GO ID Score Top Affiliating Genes
1 learning or memory GO:0007611 9.32 APP PRNP
2 response to cadmium ion GO:0046686 9.26 GSS PRNP
3 negative regulation of T cell receptor signaling pathway GO:0050860 9.16 PRNP THY1
4 cellular copper ion homeostasis GO:0006878 8.96 APP PRNP
5 response to oxidative stress GO:0006979 8.92 APP GSS HMOX1 PRNP

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

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.92 APP HMOX1 THY1 YWHAB

Sources for Gerstmann-Straussler Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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