loading...| Preferred Name |
Gerstmann-Straussler-Scheinker Disease |
|
| Synonyms |
Inherited Spongiform Encephalopathy, Gerstmann-Straussler Disease, Gerstmann-Straussler Gerstmann Straussler Disease Gerstmann Straussler Inherited Spongiform Encephalopathy Gerstmann-Straussler Disease Inherited Spongiform Encephalopathy, Gerstmann Straussler Gerstmann-Straussler-Scheinker Syndrome Diseases, Gerstmann-Straussler Gerstmann-Straussler Inherited Spongiform Encephalopathy Gerstmann Straussler Scheinker Disease Gerstmann Straussler Scheinker Syndrome Gerstmann-Straussler Diseases Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type Gerstmann Straussler Syndrome Gerstmann-Straussler Syndrome |
|
| Definitions |
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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D016098 |
|
| altLabel |
Inherited Spongiform Encephalopathy, Gerstmann-Straussler Disease, Gerstmann-Straussler Gerstmann Straussler Disease Gerstmann Straussler Inherited Spongiform Encephalopathy Gerstmann-Straussler Disease Inherited Spongiform Encephalopathy, Gerstmann Straussler Gerstmann-Straussler-Scheinker Syndrome Diseases, Gerstmann-Straussler Gerstmann-Straussler Inherited Spongiform Encephalopathy Gerstmann Straussler Scheinker Disease Gerstmann Straussler Scheinker Syndrome Gerstmann-Straussler Diseases Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type Gerstmann Straussler Syndrome Gerstmann-Straussler Syndrome |
|
| AN |
a prion dis: do not confuse with GERSTMANN SYNDROME, a type of agnosia |
|
| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH TM UR VE VI |
|
| cui |
C0017495 |
|
| DC |
1 |
|
| definition |
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) |
|
| DX |
19910101 |
|
| HN |
2000(1991); use SLOW VIRUS DISEASES 1988-1990; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE was GERSTMANN-STRAUSSLER-SCHEINDER DISEASE see GERSTMANN-STRAUSSLER SYNDROME 1991 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000635 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2000; see GERSTMANN-STRAUSSLER SYNDROME 1991-1999; see SLOW VIRUS DISEASES 1988-1990; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE was GERSTMANN-STRAUSSLER-SCHEINDER DISEASE see GERSTMANN-STRAUSSLER SYNDROME 1991 |
|
| MDA |
19900606 |
|
| MMR |
20190617 |
|
| MN |
C16.320.400.350 C10.228.228.800.350 C10.574.500.425 C01.207.800.350 C10.574.843.400 |
|
| notation |
D016098 |
|
| prefLabel |
Gerstmann-Straussler-Scheinker Disease |
|
| TERMUI |
T811555 T368339 T047840 T751207 T047839 T368340 T751208 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1991) NLM (2010) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |