Gerstmann-Straussler Disease malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Gerstmann-Straussler Disease:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases
ICD10: 29 28
Rare neurological diseases
OMIM:50 Gerstmann-Straussler disease is a rare inherited prion disease characterized by adult onset of memory loss, dementia,... (137440) more...
MalaCards based summary: Gerstmann-Straussler Disease, also known as gerstmann-straussler-scheinker disease, is related to glutathione synthetase deficiency and glycogen storage disease iv, and has symptoms including cerebellar ataxia, cerebellar ataxia and muscle rigidity. An important gene associated with Gerstmann-Straussler Disease is PRNP (Prion Protein), and among its related pathways are Glypican 1 network and Neuroscience. Affiliated tissues include brain, cerebellum and eye, and related mouse phenotype reproductive system.
Disease Ontology:11 A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
NIH Rare Diseases:46 Gerstmann-straussler-scheinker disease (gss) is a type of prion disease. prion diseases are a group of conditions that affect the nervous system. the main feature of gss is a progressive degeneration of the cerebellum (a part of the brain that controls coordination, balance, equilibrium and muscle tone), as well as different degrees of dementia. signs and symptoms generally develop between ages 35 and 50 years and may include weakness in the legs, poor reflexes, abnormal sensations, progressive ataxia, cognitive dysfunction, slurred speech, and spasticity. on average, people affected by gss survive approximately 60 months (range 2 to 10 years) following diagnosis. it is caused by changes (mutations) in the prnp gene and inheritance is autosomal dominant. treatment is based on the signs and symptoms present in each person. for information on other prion diseases, please visit gard's creutzfeldt-jakob disease and fatal familial insomnia pages. last updated: 7/11/2016
UniProtKB/Swiss-Prot:68 Gerstmann-Straussler disease: A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years.
NINDS:47 Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In the early stages, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include dysarthria (slurring of speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), and visual disturbances, sometimes leading to blindness. Deafness also can occur. In some families, parkinsonian features are present. GSS belongs to a family of human and animal diseases known as the (TSEs). Other TSEs include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia.
HPO human phenotypes related to Gerstmann-Straussler Disease:(show all 26)
UMLS symptoms related to Gerstmann-Straussler Disease:cerebellar ataxia, muscle rigidity, muscle spasticity, myoclonus, tremor, bradykinesia, personality change, ataxia, truncal, memory loss, gait ataxia, weakness of lower limb
MalaCards organs/tissues related to Gerstmann-Straussler Disease:34
Brain, Cerebellum, Eye
UniProtKB/Swiss-Prot genetic disease variations for Gerstmann-Straussler Disease:68
Clinvar genetic disease variations for Gerstmann-Straussler Disease:5 (show all 12)
Search GEO for disease gene expression data for Gerstmann-Straussler Disease.
Cellular components related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:
Biological processes related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:
Molecular functions related to Gerstmann-Straussler Disease according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet