MCID: SMN008
MIFTS: 50

Semantic Dementia malady

Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Semantic Dementia

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NINDS:43 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick?s disease, the name and classification of FTD has been a topic of discussion for over a century.

MalaCards based summary: Semantic Dementia, also known as semantic primary progressive aphasia, is related to frontotemporal dementia and aphasia. An important gene associated with Semantic Dementia is GRN (granulin), and among its related pathways are Budding and maturation of HIV virion and Fanconi anemia pathway. The compounds tacrine and donepezil have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and testes, and related mouse phenotypes are other and no phenotypic analysis.

Wikipedia:65 Semantic dementia (SD) is a progressive neurodegenerative disorder characterized by loss of semantic... more...

Aliases & Classifications for Semantic Dementia

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Sources:
42NIH Rare Diseases, 43NINDS, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Semantic Dementia, Aliases & Descriptions:

Name: Semantic Dementia 42 43 44 48 62
Semantic Primary Progressive Aphasia 42 48
Semantic Variant Ppa 42 48
 
Primary Progressive Aphasia 62
Dementia - Semantic 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

48
semantic dementia:
Inheritance: Multigenic/multifactorial,Sporadic; Age of onset: Adulthood


External Ids:

ICD10 via Orphanet26 G31.0
UMLS via Orphanet63 C0338462

Related Diseases for Semantic Dementia

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Diseases related to Semantic Dementia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia31.5PSEN1, MAPT
2aphasia31.2C9orf72, MAPT, GRN, TARDBP
3primary progressive aphasia31.1GRN, MAPT, RPS27A
4dementia30.7APOE, VCP, TREM2, TARDBP, GRN, MAPT
5apraxia30.6GRN, MAPT
6memory impairment30.6GRN, MAPT, PSEN1, APOE
7pick's disease30.6PSEN1, MAPT
8alzheimer's disease30.3APOE, VCP, PSEN1, RPS27A, MAPT, GRN
9tauopathy30.2PSEN1, RPS27A, MAPT, GRN
10motor neuron disease30.0VCP, RPS27A, MAPT, GRN, TARDBP
11dyslexia10.6
12frontotemporal lobar degeneration with ubiquitin-positive inclusions10.5GRN
13neuronitis10.4
14neuronal intranuclear inclusion disease10.4RPS27A
15alexia10.4
16cerebritis10.4
17corticobasal degeneration10.4
18lateral sclerosis10.4TARDBP
19inclusion body myositis10.3MAPT, RPS27A
20dysgraphia10.3
21spinocerebellar ataxia10.2MAPT, RPS27A
22lewy body dementia10.2APOE, MAPT
23movement disease10.2MAPT, RPS27A
24prion disease10.2MAPT, PSEN1
25progressive supranuclear palsy10.2APOE, RPS27A, MAPT
26creutzfeldt-jakob disease10.2APOE, RPS27A, MAPT
27prosopagnosia10.1
28encephalitis10.1
29herpes simplex10.1
30hyperacusis10.1
31progressive non-fluent aphasia10.1
32multiple system atrophy10.1RPS27A, MAPT
33parkinson's disease10.1MAPT, RPS27A, APOE
34myositis10.1PSEN1, RPS27A, MAPT
35huntington's disease10.1PSEN1, RPS27A, MAPT
36teratocarcinoma10.1MAPT, PSEN1
37hemorrhage, intracerebral10.1APOE, PSEN1, RPS27A
38alzheimer disease type 210.1APOE, PSEN1, MAPT
39cerebral amyloid angiopathy10.1APOE, PSEN1, MAPT
40machado-joseph disease10.1VCP, RPS27A
41down syndrome10.0MAPT, PSEN1, APOE
42brain disease10.0PSEN1, MAPT
43vascular dementia10.0APOE, PSEN1, RPS27A, MAPT
44amyloid tumor9.9APOE, PSEN1, RPS27A, MAPT
45amyloidosis9.9APOE, PSEN1, RPS27A, MAPT
46cerebrovascular disease9.9MAPT, PSEN1, APOE
47amyotrophic lateral sclerosis type 149.0TARDBP, GRN, MAPT, RPS27A, PSEN1, CHMP2B

Graphical network of the top 20 diseases related to Semantic Dementia:



Diseases related to semantic dementia

Symptoms for Semantic Dementia

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Drugs & Therapeutics for Semantic Dementia

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Drug clinical trials:

Search ClinicalTrials for Semantic Dementia

Search NIH Clinical Center for Semantic Dementia

Genetic Tests for Semantic Dementia

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Anatomical Context for Semantic Dementia

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MalaCards organs/tissues related to Semantic Dementia:

32
Brain, Temporal lobe, Testes, Cortex

Animal Models for Semantic Dementia or affiliated genes

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MGI Mouse Phenotypes related to Semantic Dementia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0MAPT, PSEN1, APOE
2MP:00030128.2APOE, C9orf72, MAPT, GRN, TARDBP
3MP:00053698.1APOE, VCP, PSEN1, MAPT, TARDBP
4MP:00053977.8APOE, VCP, PSEN1, MAPT, GRN, TARDBP
5MP:00053867.7APOE, VCP, PSEN1, MAPT, GRN, TARDBP
6MP:00053847.7APOE, VCP, PSEN1, MAPT, GRN, TARDBP
7MP:00107687.7VCP, PSEN1, MAPT, GRN, TARDBP, APOE
8MP:00036317.6APOE, VCP, PSEN1, MAPT, GRN, TARDBP
9MP:00053877.5TREM2, TARDBP, GRN, MAPT, PSEN1, VCP

Publications for Semantic Dementia

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Articles related to Semantic Dementia:

(show top 50)    (show all 301)
idTitleAuthorsYear
1
Cerebellar hyperperfusion in semantic dementia. (23414345)
2014
2
Semantic dementia shows both storage and access disorders of semantic memory. (24825958)
2014
3
Machine learning approaches to diagnosis and laterality effects in semantic dementia discourse. (23876449)
2013
4
Phonology without semantics? Good enough for verbal short-term memory. Evidence from a patient with semantic dementia. (22664140)
2013
5
Ever decreasing circles: Speech production in semantic dementia. (23561299)
2013
6
Demonstrating the qualitative differences between semantic aphasia and semantic dementia: a novel exploration of nonverbal semantic processing. (22713375)
2013
7
Late-onset OCD as presenting manifestation of semantic dementia. (21908052)
2012
8
Considering the role of semantic memory in episodic future thinking: evidence from semantic dementia. (22614246)
2012
9
Semantic dementia without surface dyslexia in Spanish: unimpaired reading with impaired semantics. (22713391)
2012
10
Reverse concreteness effects are not a typical feature of semantic dementia: evidence for the hub-and-spoke model of conceptual representation. (21285258)
2011
11
Clinical profiles of late-onset semantic dementia, compared with early-onset semantic dementia and late-onset Alzheimer's disease. (21447109)
2011
12
Verb production during action naming in semantic dementia. (21237467)
2011
13
Anomia as a marker of distinct semantic memory impairments in Alzheimer's disease and semantic dementia. (21443339)
2011
14
Semantic dementia with lower motor neuron disease showing FTLD-TDP type 3 pathology (sensu Mackenzie). (21029204)
2011
15
Visual search patterns in semantic dementia show paradoxical facilitation of binding processes. (21215762)
2011
16
Semantic dementia: demography, familial factors and survival in a consecutive series of 100 cases. (19805492)
2010
17
Flavour processing in semantic dementia. (19656505)
2010
18
Personal experience and arithmetic meaning in semantic dementia. (19766666)
2010
19
Language networks in semantic dementia. (19759202)
2010
20
Abnormal discourse in semantic dementia: a data-driven approach. (20614366)
2010
21
Atrophy patterns in Alzheimer's disease and semantic dementia: a comparison of FreeSurfer and manual volumetric measurements. (19874902)
2010
22
'The quicksand of forgetfulness': semantic dementia in One hundred years of solitude. (19447824)
2009
23
Effects of semantic impairment on language processing in semantic dementia. (18348090)
2008
24
What does a patient with semantic dementia remember in verbal short-term memory? Order and sound but not words. (18416485)
2007
25
Conceptual priming in semantic dementia: A window into the cognitive and neural basis of conceptual implicit memory. (21049346)
2006
26
'Non-semantic' aspects of language in semantic dementia: as normal as they're said to be? (16517512)
2006
27
How Berlusconi keeps his face: a neuropsychological study in a case of semantic dementia. (16771038)
2006
28
Semantic dementia and fluent primary progressive aphasia: two sides of the same coin? (17071925)
2006
29
Autobiographical memory in semantic dementia: implication for theories of limbic-neocortical interaction in remote memory. (16765999)
2006
30
Semantic dementia, a many-worded disorder]. (17133330)
2006
31
The understanding of quantifiers in semantic dementia: a single-case study. (16801149)
2006
32
Jargon dyslexia in an individual with semantic dementia: further evidence for task-specificity in phonological output. (16251136)
2005
33
Frontotemporal dementia, semantic dementia, and Alzheimer's disease: the contribution of standard neuropsychological tests to differential diagnosis. (15681627)
2005
34
A semantic contribution to nonword recall? Evidence for intact phonological processes in semantic dementia. (21038246)
2005
35
The role of the temporal lobe semantic system in number knowledge: evidence from late-stage semantic dementia. (15716160)
2005
36
Semantic and syntactic aspects of the mass/count distinction: a case study of semantic dementia. (15780454)
2005
37
The contribution of autobiographical significance to semantic memory: evidence from Alzheimer's disease, semantic dementia, and amnesia. (14615074)
2004
38
Knowledge of famous faces and names in semantic dementia. (14985259)
2004
39
Semantic dementia in multilingual patients. (15377748)
2004
40
A duck with four legs: Investigating the structure of conceptual knowledge using picture drawing in semantic dementia. (20957563)
2003
41
Left/right asymmetry of atrophy in semantic dementia: behavioral-cognitive implications. (14610120)
2003
42
Memory consolidation and the hippocampus: further evidence from studies of autobiographical memory in semantic dementia and frontal variant frontotemporal dementia. (11792404)
2002
43
The influence of personal familiarity and context on object use in semantic dementia. (11997491)
2002
44
Differing patterns of temporal atrophy in Alzheimer's disease and semantic dementia. (11468305)
2001
45
Semantic dementia with ubiquitin-positive tau-negative inclusion bodies. (10648435)
2000
46
Combined semantic dementia and apraxia in a patient with frontotemporal lobar degeneration. (11090722)
2000
47
The rise and fall of frequency and imageability: noun and verb production in semantic dementia. (10872636)
2000
48
What does semantic dementia reveal about the functional role of the perirhinal cortex? (10377536)
1999
49
Differentiating the roles of the hippocampal complex and the neocortex in long-term memory storage: evidence from the study of semantic dementia and Alzheimer's disease. (9055272)
1997
50
Nonfluent progressive aphasia and semantic dementia: a comparative neuropsychological study. (9375155)
1996

Variations for Semantic Dementia

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Clinvar genetic disease variations for Semantic Dementia:

6
id Gene Name Type Significance SNP ID Assembly Location
1GRNNM_002087.2(GRN): c.813_816delCACT (p.Thr272Serfs)deletionPathogenicrs63749877GRCh37Chr 17, 42428509: 42428512

Expression for genes affiliated with Semantic Dementia

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Expression patterns in normal tissues for genes affiliated with Semantic Dementia

Search GEO for disease gene expression data for Semantic Dementia.

Pathways for genes affiliated with Semantic Dementia

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Pathways related to Semantic Dementia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4RPS27A, CHMP2B
2
Show member pathways
9.4RPS27A, VCP
3
Show member pathways
Alzheimers Disease37
9.3APOE, PSEN1, MAPT
49.3MAPT, PSEN1, APOE
58.4TARDBP, MAPT, PSEN1, APOE

Compounds for genes affiliated with Semantic Dementia

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Compounds related to Semantic Dementia according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1tacrine44 1111.0MAPT, APOE
2donepezil44 50 24 1113.0APOE, MAPT
3galantamine44 50 1112.0APOE, MAPT
4guanidine44 24 1111.9MAPT, APOE
5fluorochrome449.9MAPT, RPS27A
6cysteamine44 24 1111.7APOE, RPS27A
7spec-t449.7APOE, PSEN1, MAPT
8vitamin b12449.7MAPT, PSEN1, APOE
9kainate44 2810.7APOE, PSEN1, MAPT
10folate449.6MAPT, PSEN1, APOE
11glycerol44 24 1111.5MAPT, RPS27A, PSEN1
12streptozotocin449.5APOE, RPS27A
13thioflavine s449.4MAPT, RPS27A, APOE
14formate449.4MAPT, RPS27A, APOE
15chloroquine44 2 50 28 1113.4APOE, RPS27A, MAPT
16sodium dodecylsulfate449.4MAPT, RPS27A, APOE
17glycogen44 2410.4MAPT, RPS27A, PSEN1
18biotin44 24 1111.3RPS27A, PSEN1, APOE
19tamoxifen44 50 28 1112.3APOE, RPS27A, GRN
20n acetylcysteine449.3MAPT, RPS27A, APOE
21acetylcholine44 50 28 24 1113.2MAPT, RPS27A, APOE
22proline449.2MAPT, RPS27A, PSEN1
23actinomycin d449.2MAPT, RPS27A, APOE
24paraffin449.1MAPT, RPS27A, APOE
254-hydroxynonenal44 2410.1MAPT, RPS27A, PSEN1, APOE
26lactacystin449.1APOE, PSEN1, RPS27A, MAPT
27valine449.1APOE, PSEN1, RPS27A, MAPT
28nmda44 2810.1APOE, PSEN1, RPS27A, MAPT
29guanidine hydrochloride449.0RPS27A, APOE
30aspartate449.0APOE, PSEN1, RPS27A, MAPT
31threonine449.0MAPT, RPS27A, PSEN1, VCP
32cycloheximide449.0MAPT, RPS27A, PSEN1, APOE
33cyclosporin a44 28 6111.0APOE, RPS27A, MAPT
34h2o2449.0MAPT, RPS27A, PSEN1, APOE
35arginine449.0APOE, PSEN1, RPS27A, MAPT
36glutamate448.9APOE, PSEN1, RPS27A, MAPT
37estrogen448.9APOE, RPS27A, MAPT, GRN
38alanine448.9APOE, PSEN1, RPS27A, MAPT
39dopamine44 28 24 1111.9MAPT, RPS27A, APOE
40superoxide44 249.8TARDBP, PSEN1, VCP
41cysteine448.7GRN, MAPT, RPS27A, PSEN1, APOE
42glutamine448.6MAPT, RPS27A, PSEN1, VCP, APOE
43serine448.5MAPT, RPS27A, PSEN1, VCP, APOE

GO Terms for genes affiliated with Semantic Dementia

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Biological processes related to Semantic Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of axon extensionGO:0457739.6APOE, MAPT
2endosomal transportGO:0161979.4RPS27A, CHMP2B
3Notch receptor processingGO:0072209.4RPS27A, PSEN1
4positive regulation of proteasomal ubiquitin-dependent protein catabolic processGO:0324369.3PSEN1, VCP
5cell deathGO:0082198.0TARDBP, GRN, CHMP2B, C9orf72, APOE

Molecular functions related to Semantic Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lipoprotein particle bindingGO:0718139.5MAPT, APOE
2poly(A) RNA bindingGO:0448228.0TARDBP, GRN, RPS27A, VCP
3protein bindingGO:0055157.2C9orf72, VCP, PSEN1, MAPT, GRN, TARDBP

Products for genes affiliated with Semantic Dementia

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Sources for Semantic Dementia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet