loading...| Preferred Name | Gerstmann-Straussler-Scheinker syndrome | |
| Synonyms |
Gerstmann Straussler Scheinker syndrome Gerstmann-Straussler disease encephalopathy subacute spongiform Gerstmann-Straussler type cerebral amyloid angiopathy, Prnp-related cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system encephalopathy, Subacute spongiform, Gerstmann-Straussler type amyloidosis cerebral with spongiform encephalopathy GSD amyloidosis, cerebral, with spongiform encephalopathy cerebellar ataxia, progressive dementia, and amyloid deposits in CNS prion dementia subacute spongiform encephalopathy, Gerstmann-Straussler type Gerstmann-Straussler-Scheinker disease |
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| Definitions |
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. Editor note: MESH considers as two diseases |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007656 |
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| comment |
Editor note: MESH considers as two diseases |
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| closeMatch | ||
| database_cross_reference |
ICD9:046.71 MESH:C535800 icd11.foundation:406818835 DOID:4249 OMIM:137440 NCIT:C84727 ICD10CM:A81.82 MedDRA:10072075 UMLS:C0017495 GARD:7690 SCTID:67155006 Orphanet:356 |
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| 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. |
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| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84727 http://linkedlifedata.com/resource/umls/id/C0017495 http://identifiers.org/mesh/C535800 http://purl.bioontology.org/ontology/ICD10CM/A81.82 http://purl.obolibrary.org/obo/Orphanet_356 |
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| has material basis in germline mutation in | ||
| has_exact_synonym |
prion dementia subacute spongiform encephalopathy, Gerstmann-Straussler type Gerstmann-Straussler-Scheinker disease |
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| has_related_synonym |
Gerstmann Straussler Scheinker syndrome Gerstmann-Straussler disease encephalopathy subacute spongiform Gerstmann-Straussler type cerebral amyloid angiopathy, Prnp-related cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system encephalopathy, Subacute spongiform, Gerstmann-Straussler type amyloidosis cerebral with spongiform encephalopathy GSD amyloidosis, cerebral, with spongiform encephalopathy cerebellar ataxia, progressive dementia, and amyloid deposits in CNS |
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| IAO_0000233 | ||
| id |
MONDO:0007656 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
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| label |
Gerstmann-Straussler-Scheinker syndrome |
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| notation |
MONDO:0007656 |
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| prefLabel |
Gerstmann-Straussler-Scheinker syndrome |
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| treeView | ||
| subClassOf |