Gerstmann-Straussler-Scheinker syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007656


A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. [ NCIT:P378 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:046.71 (DOID:4249)
  • NCIT:C84727 (MONDO:equivalentTo)
  • Orphanet:356 (OMIM:137440)
  • SCTID:67155006 (MONDO:equivalentTo)
  • DOID:4249 (MONDO:equivalentTo)
  • ICD10:A81.8 (Orphanet:356)
  • UMLS:C0017495 (Orphanet:356)
  • MESH:C535800 (MONDO:equivalentTo)
  • MedDRA:10072075 (Orphanet:356)
  • OMIM:137440 (Orphanet:356)
  • ICD10:A81.82 (MONDO:equivalentTo)
  • GARD:0007690 (Orphanet-shared)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C3805618

comment

Editor note: MESH considers as two diseases

definition

A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.

exactMatch

http://identifiers.org/mesh/C535800

http://purl.obolibrary.org/obo/NCIT_C84727

http://purl.obolibrary.org/obo/DOID_4249

http://identifiers.org/omim/137440

http://identifiers.org/meddra/10072075

http://www.orpha.net/ORDO/Orphanet_356

http://identifiers.org/mesh/D016098

http://identifiers.org/snomedct/67155006

http://linkedlifedata.com/resource/umls/id/C0017495

has exact synonym

Gerstmann-Straussler-Scheinker disease

prion dementia

subacute spongiform encephalopathy, Gerstmann-Straussler type

has related synonym

amyloidosis, cerebral, with spongiform encephalopathy

amyloidosis cerebral with spongiform encephalopathy

cerebellar ataxia, progressive dementia, and amyloid deposits in CNS

encephalopathy, Subacute spongiform, Gerstmann-Straussler type

Gerstmann Straussler Scheinker syndrome

GSD

encephalopathy subacute spongiform Gerstmann-Straussler type

cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system

cerebral amyloid angiopathy, Prnp-related

Gerstmann-Straussler disease

id

MONDO:0007656