DiseaseID 4071
格斯特曼-施特劳斯勒-辛克病
disease
NCI2016_02D: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 in
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Disease: 1Herb: 12Symptom: 9Target: 19Links: 45
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4071
- Core Entity Id
- 60362
- Source Entity Count
- 1
- Preferred Name
- Gerstmann-Straussler-Scheinker Disease
- Name Cn
- 格斯特曼-施特劳斯勒-辛克病
- Name Pinyin
- Ge Si Te Man - Shi Te Lao Si Lei - Xin Ke Bing
- Name En
- Gerstmann-Straussler-Scheinker Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; InfectionsMental Disorders; Infections; Nervous System Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System DiseasesInfections; Nervous System Diseases; Mental Disorders
- Hpo Class Name
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D: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.|MSH2017_2016_08_12: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)
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Gerstmann-Straussler-Scheinker Disease
Role
preferred
Name
Amyloidosis, Cerebral, With Spongiform Encephalopathy
Role
preferred
Name
Gerstmann-Straussler Disease
Role
preferred
Name
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
Role
preferred
Name
CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS
Role
alias
Name
ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE
Role
alias
Name
GSD
Role
alias
Name
GSS
Role
alias
Name
Gerstmann-Straussler-Scheinker Syndrome
Role
alias
Name
PRION DEMENTIA
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001148HBDIS020199HBDIS022184
Me Sh
D016098
Omim
137440
Umls
C0017495C2931022C3805618
Icd10
A81.82
Sym Map
SMDE01748SMDE05800SMDE09014
Do Class
DOID:7
Dis Ge Net
C0017495C2931022C3805618
Umls Sty
T047
Me Sh Class
C01C10C16F03
Etcm Disease
Gerstmann-Straussler Disease
Tcmbank Disease
156072263329080
Itcmdb Generated
ITX-DISEASE-8C850318D382ITX-DISEASE-9EE96BE832F1
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Gerstmann-Straussler Disease Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Gerstmann-Straussler Disease
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Definition
NCI2016_02D: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.|MSH2017_2016_08_12: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)
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; InfectionsMental Disorders; Infections; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System DiseasesInfections; Nervous System Diseases; Mental Disorders
Umls Semantic Type Name
Disease or Syndrome