Dementia, Familial, Nonspecific malady
Categories: Genetic diseases (common), Mental diseases
Aliases & Descriptions for Dementia, Familial, Nonspecific:
dementia, familial, nonspecific:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases (common)
Anatomical: Mental diseases
OMIM:50 A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow... (600795) more...
MalaCards based summary: Dementia, Familial, Nonspecific, also known as frontotemporal dementia, chromosome 3-linked, is related to dementia and amyotrophic lateral sclerosis 17, and has symptoms including muscle rigidity, muscle rigidity and myoclonus. An important gene associated with Dementia, Familial, Nonspecific is CHMP2B (Charged Multivesicular Body Protein 2B). Affiliated tissues include brain.
UniProtKB/Swiss-Prot:68 Frontotemporal dementia, chromosome 3-linked: Characterized by an onset of dementia in the late 50's initially characterized by behavioral and personality changes including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits.
Genetics Home Reference:24 CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.
GeneReviews summary for NBK1199
Diseases related to Dementia, Familial, Nonspecific via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to Dementia, Familial, Nonspecific:(show all 25)
UMLS symptoms related to Dementia, Familial, Nonspecific:muscle rigidity, myoclonus, apathy, pyramidal sign, personality change, memory loss, restlessness
MalaCards organs/tissues related to Dementia, Familial, Nonspecific:34
UniProtKB/Swiss-Prot genetic disease variations for Dementia, Familial, Nonspecific:68
Clinvar genetic disease variations for Dementia, Familial, Nonspecific:5
Search GEO for disease gene expression data for Dementia, Familial, Nonspecific.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet