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Details
Link-It Detail - Disease - Gerstmann-Straussler-Scheinker Disease
Debug Stats
  • ### Total Build Time: 26 ms 27.371 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 374 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 711 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
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  • CONCEPT_RELATIONSHIPS gt=16 ms Completed: 16 ms rowSize= 13.554 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 3.645 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gerstmann-Straussler-Scheinker Disease C0017495
Definition (1)
An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Prion Diseases C0162534
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Prion Diseases C0162534
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Prion Diseases C0162534
img Bacterial Infections and Mycoses C0004615img Central Nervous System Infections C00076844img Prion Diseases C0162534
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (49)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 4
diso_​to_​diso : 40
diso_​to_​phen : 2


Relationships:
none : 6
alias_​of : 1
associated_​with : 1
is_​associated_​anatomic_​site_​of : 2
is_​primary_​anatomic_​site_​of_​disease : 1
manifestation_​of : 37
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN26img genetic aspects C0017399
DISO_to_CHEM25img Prions C0033164
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_CHEM12img Prions C0033164
DISO_to_DISO8img Creutzfeldt-Jakob Syndrome C0022336
DISO_to_CHEM7img PrPSc Proteins C0074204
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Brain C0006104
DISO_to_ANATis_associated_anatomic_site_ofimg Central Nervous System C0927232
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_CHEMassociated_withimg Prions C0033164
DISO_to_DISOmanifestation_ofimg A69 APRAXIAS C0003635
DISO_to_DISOmanifestation_ofimg ATAXIC GAIT C0751837
DISO_to_DISOmanifestation_ofimg Adult onset, usually 30's to 40's, but up to early 60's C1842047
DISO_to_DISOmanifestation_ofimg Aggression C0001807
DISO_to_DISOmanifestation_ofimg Amyloid-like plaques are not immunoreactive to APP (104760) C1842041
DISO_to_DISOmanifestation_ofimg Amyloid-like plaques, immunoreactive to PrP, predominantly in the cerebellum C1842040
DISO_to_DISOmanifestation_ofimg Appendicular Ataxia C0750937
DISO_to_DISOmanifestation_ofimg Ataxia, Truncal C0427190
DISO_to_DISOmanifestation_ofimg Average disease duration of 7 years C1842049
DISO_to_DISOmanifestation_ofimg Bradykinesia C0233565
DISO_to_DISOmanifestation_ofimg Caused by mutation in the prion protein gene (PRNP, 176640.0002) C1842046
DISO_to_DISOmanifestation_ofimg Cerebellar atrophy C0740279
DISO_to_DISOmanifestation_ofimg Change in personality C0240735
DISO_to_DISOused_forimg DEMENTIAS TRANSM C0162534
DISO_to_DISOmanifestation_ofimg Dementia (later onset) C1848565
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPRNP5621prion protein
img GENERIF, Score=1000, Pubmed Id: 16025285, UMLKSK CUI: C0017495
img GENERIF, Score=1000, Pubmed Id: 16825951, UMLKSK CUI: C0017495
img GENERIF, Score=933, Pubmed Id: 18619462, UMLKSK CUI: C0017495
img GENERIF, Score=1000, Pubmed Id: 12682740, UMLKSK CUI: C0017495
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017495Gerstmann-Straussler-Scheinker Disease0self