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MCID: SMN008
MIFTS: 46

Semantic Dementia

Categories: Mental diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Semantic Dementia

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MalaCards integrated aliases for Semantic Dementia:

Name: Semantic Dementia 20 53 58 54 70
Semantic Primary Progressive Aphasia 20 58
Semantic Variant Ppa 20 58
Dementia - Semantic 53

Characteristics:

Orphanet epidemiological data:

58
semantic dementia
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G31.0
UMLS via Orphanet 71 C0338462
Orphanet 58 ORPHA100069
UMLS 70 C0338462
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Summaries for Semantic Dementia

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NINDS : 53 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.  The current designation of the syndrome groups together Pick’s disease, primary progressive aphasia, and semantic dementia as FTD.  Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex.  These designations will continue to be debated.  As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language.  The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation.  The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral type’s symptoms.  Spatial skills and memory remain intact.  There is a strong genetic component to the disease; FTD often runs in families.

MalaCards based summary : Semantic Dementia, also known as semantic primary progressive aphasia, is related to frontotemporal lobar degeneration with tdp43 inclusions, grn-related and mild cognitive impairment. An important gene associated with Semantic Dementia is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. Affiliated tissues include temporal lobe, brain and cortex, and related phenotypes are aphasia and brain atrophy

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100069 Definition Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.

Wikipedia : 73 Semantic dementia (SD), also known as semantic variant primary progressive aphasia (svPPA), is a... more...

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Related Diseases for Semantic Dementia

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

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 31.9 RPS27A MAPT GRN
2 mild cognitive impairment 30.7 MAPT APOE
3 amnestic disorder 30.7 PSEN1 MAPT APOE
4 corticobasal degeneration 30.7 RPS27A MAPT
5 alexia 30.3 TARDBP MAPT GRN APOE
6 posterior cortical atrophy 30.3 MAPT APOE
7 lateral sclerosis 30.2 TARDBP CHMP2B C9orf72
8 prosopagnosia 30.1 TARDBP MAPT GRN CHMP2B C9orf72
9 vascular dementia 29.9 PSEN1 MAPT APOE
10 anosognosia 29.9 PSEN1 C9orf72 APOE
11 echolalia 29.8 MAPT GRN C9orf72
12 nominal aphasia 29.8 TARDBP PSEN1 MAPT GRN CHMP2B C9orf72
13 dysgraphia 29.8 TARDBP MAPT GRN CHMP2B C9orf72
14 creutzfeldt-jakob disease 29.8 RPS27A MAPT APOE
15 agraphia 29.7 TARDBP MAPT GRN C9orf72 APOE
16 apraxia 29.7 PSEN1 MAPT GRN C9orf72 APOE
17 obsessive-compulsive disorder 29.7 GRN C9orf72 APOE
18 associative agnosia 29.5 TARDBP MAPT GRN CHMP2B C9orf72
19 aphasia 29.5 TMEM106B TARDBP PSEN1 MAPT GRN CHMP2B
20 motor neuron disease 29.3 TARDBP RPS27A MAPT GRN CHMP2B C9orf72
21 dyscalculia 29.3 TARDBP MAPT GRN CHMP2B APOE
22 alzheimer disease 29.2 TREM2 TARDBP RPS27A PSEN1 MAPT GRN
23 dementia 29.2 TREM2 TMEM106B TARDBP PSEN1 MAPT GRN
24 frontotemporal dementia 29.1 TREM2 TMEM106B TARDBP RPS27A PSEN1 PCBP2
25 pick disease of brain 29.1 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
26 movement disease 28.6 TARDBP PSEN1 MAPT GRN CHMP2B C9orf72
27 progressive non-fluent aphasia 28.6 TREM2 TMEM106B PSEN1 MAPT GRN CHMP2B
28 speech and communication disorders 28.1 TMEM106B TARDBP PSEN1 MAPT GRN CHMP2B
29 amyotrophic lateral sclerosis 1 27.5 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
30 supranuclear palsy, progressive, 1 27.4 TREM2 TMEM106B TARDBP RPS27A PSEN1 MAPT
31 dyslexia 10.5
32 cerebral atrophy 10.3
33 subjective cognitive decline 10.3 MAPT APOE
34 alzheimer disease 10 10.3 MAPT APOE
35 binswanger's disease 10.2 MAPT APOE
36 age-related hearing loss 10.2 MAPT APOE
37 akinetic mutism 10.2 TARDBP MAPT
38 postencephalitic parkinson disease 10.2 TARDBP MAPT
39 brain injury 10.2 MAPT APOE
40 agnosia 10.2
41 cerebral amyloid angiopathy, app-related 10.2 PSEN1 APOE
42 alzheimer disease 9 10.2 PSEN1 MAPT
43 cerebral cortical dysplasia 10.2 RPS27A MAPT
44 amyotrophic lateral sclerosis type 22 10.1 TARDBP C9orf72
45 alzheimer disease 4 10.1 PSEN1 APOE
46 spinal muscular atrophy type 0 10.1 RPS27A MAPT
47 retrograde amnesia 10.1
48 herpes simplex encephalitis 10.1
49 apperceptive agnosia 10.1 GRN C9orf72
50 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.1 TARDBP C9orf72

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



Diseases related to Semantic Dementia
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Symptoms & Phenotypes for Semantic Dementia

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Human phenotypes related to Semantic Dementia:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
2 brain atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0012444
3 visual agnosia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030222
4 anomia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030784
5 dysgraphia 58 31 frequent (33%) Frequent (79-30%) HP:0010526
6 dyslexia 58 31 frequent (33%) Frequent (79-30%) HP:0010522
7 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
8 alexia 58 31 frequent (33%) Frequent (79-30%) HP:0010523
9 abulia 58 31 frequent (33%) Frequent (79-30%) HP:0012671
10 neurological speech impairment 58 Frequent (79-30%)
11 abnormal test result 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Semantic Dementia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 APOE C9orf72 CHMP2B GRN MAPT PCBP2
2 hematopoietic system MP:0005397 10.02 APOE C9orf72 CHMP2B GRN MAPT PCBP2
3 cellular MP:0005384 10.01 APOE C9orf72 GRN MAPT PSEN1 TARDBP
4 cardiovascular system MP:0005385 9.98 APOE C9orf72 CHMP2B MAPT PCBP2 PSEN1
5 homeostasis/metabolism MP:0005376 9.96 APOE C9orf72 CHMP2B GRN MAPT PCBP2
6 immune system MP:0005387 9.81 APOE C9orf72 CHMP2B GRN MAPT PSEN1
7 nervous system MP:0003631 9.61 APOE C9orf72 CHMP2B GRN MAPT PSEN1
8 no phenotypic analysis MP:0003012 9.1 APOE C9orf72 GRN MAPT TARDBP TREM2
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Drugs & Therapeutics for Semantic Dementia

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Social Cognition in Ageing and in Frontotemporal Lobar Degeneration (Frontotemporal Dementia and Semantic Dementia): a Cognitive and Neuroimaging Study Unknown status NCT01962064
2 Slowing Language Decline in Progressive Aphasia Through Language Rehabilitation: Treatment and Neuroimaging Study Completed NCT00957710
3 Language in Primary Progressive Aphasia Recruiting NCT00537004
4 Investigation of the Therapeutic Value of Transcranial Stimulation With Direct Current on Language Disorders in Semantic Dementia Recruiting NCT03481933
5 Metacognition in Semantic Dementia: Comparison With Alzheimer's Disease Recruiting NCT04597827

Search NIH Clinical Center for Semantic Dementia

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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:

40
Temporal Lobe, Brain, Cortex, Prefrontal Cortex, Caudate Nucleus, Amygdala, Eye
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Publications for Semantic Dementia

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Articles related to Semantic Dementia:

(show top 50) (show all 1091)
# Title Authors PMID Year
1
Phenomenology and anatomy of abnormal behaviours in primary progressive aphasia. 61 54
20400120 2010
2
Frontotemporal lobar degeneration with ubiquitin pathology: an autopsy case presenting with semantic dementia and upper motor neuron signs with a clinical course of 19 years. 54 61
17016698 2006
3
Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation. 61 54
16222525 2005
4
Tau protein in cerebrospinal fluid from semantic dementia patients. 61 54
11072138 2000
5
Molecular and Anatomical Imaging of Dementia With Lewy Bodies and Frontotemporal Lobar Degeneration. 61
33402272 2021
6
Echolalia in patients with primary progressive aphasia. 61
33305428 2021
7
Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes. 61
33637304 2021
8
"Semantic variant primary progressive aphasia" due to comorbidity of Lewy body disease and a previous cerebral venous infarction in the left anterior temporal lobe: A case report. 61
33532636 2021
9
Changes in local brain function in mild cognitive impairment due to semantic dementia. 61
33650764 2021
10
Neurobehavioral Characteristics of FDG-PET Defined Right-Dominant Semantic Dementia: A Longitudinal Study. 61
33756466 2021
11
Primary Progressive Aphasia: Toward a Pathophysiological Synthesis. 61
33543347 2021
12
Exploring the effects of verb and noun treatment on verb phrase production in primary progressive aphasia: A series of single case experimental design studies. 61
33557713 2021
13
Frontotemporal Dementia: A Window to Alexithymia. 61
33535804 2021
14
Assessing natural metalinguistic skills in people with Alzheimer's disease and frontotemporal dementia. 61
33316623 2021
15
Daily life activities in patients with Alzheimer's disease or semantic dementia: Multitasking assessment. 61
33285188 2021
16
Breakdowns in Informativeness of Naturalistic Speech Production in Primary Progressive Aphasia. 61
33498260 2021
17
Clinical features of behavioral symptoms in patients with semantic dementia: Does semantic dementia cause autistic traits? 61
33600474 2021
18
Examining prefrontal contributions to past- and future-oriented memory disturbances in daily life in dementia. 61
33333361 2021
19
Using a second-person approach to identify disease-specific profiles of social behavior in frontotemporal dementia and Alzheimer's disease. 61
33137538 2020
20
Automated profiling of spontaneous speech in primary progressive aphasia and behavioral-variant frontotemporal dementia: An approach based on usage-frequency. 61
33120189 2020
21
Somatic TARDBP variants as a cause of semantic dementia. 61
33155043 2020
22
Multilingualism and semantic dementia - A case report. 61
32659657 2020
23
The neurophysiological architecture of semantic dementia: spectral dynamic causal modelling of a neurodegenerative proteinopathy. 61
33004840 2020
24
White matter networks dissociate semantic control from semantic knowledge representations: Evidence from voxel-based lesion-symptom mapping. 61
32529964 2020
25
Distinct performance profiles on the Brixton test in frontotemporal dementia. 61
33058472 2020
26
The effect of semantic memory degeneration on creative thinking: A voxel-based morphometry analysis. 61
32574802 2020
27
Graded, multidimensional intra- and intergroup variations in primary progressive aphasia and post-stroke aphasia. 61
32940648 2020
28
Time reference, morphology and prototypicality: tense production in stroke aphasia and semantic dementia in Greek. 61
31818150 2020
29
Apathy and its impact on carer burden and psychological wellbeing in primary progressive aphasia. 61
32623141 2020
30
Social Cognition Deficits Are Pervasive across Both Classical and Overlap Frontotemporal Dementia Syndromes. 61
33442389 2020
31
Cerebellar structural connectivity and contributions to cognition in frontotemporal dementias. 61
32428762 2020
32
Evaluating the distinction between semantic knowledge and semantic access: Evidence from semantic dementia and comprehension-impaired stroke aphasia. 61
31993976 2020
33
Longitudinal flortaucipir ([18F]AV-1451) PET uptake in semantic dementia. 61
32417749 2020
34
The White Matter Module-Hub Network of Semantics Revealed by Semantic Dementia. 61
32083520 2020
35
Classification of general and personal semantic details in the Autobiographical Interview. 61
32445644 2020
36
A snake that bites its own tail. Acquisition and loss of concepts in children and semantic dementia patients through the analysis of drawings. 61
32361266 2020
37
Spectrum of Frontotemporal Lobar Degeneration on 18F-FDG PET/CT Scan. 61
32453084 2020
38
Impact of brain atrophy on tDCS and HD-tDCS current flow: a modeling study in three variants of primary progressive aphasia. 61
32040791 2020
39
Using diffusion tensor imaging to detect cortical changes in fronto-temporal dementia subtypes. 61
32641807 2020
40
[Coping and Supporting Patients and Families of Frontotemporal Lobar Degeneration]. 61
32507760 2020
41
Clinical Features of Late-onset Semantic Dementia. 61
32496297 2020
42
[Evaluation of Semantic Dementia Patient]. 61
32507758 2020
43
[Frontotemporal Lobar Degeneration: A Historical Overview of the Concept]. 61
32507755 2020
44
Anterior temporal lobe is necessary for efficient lateralised processing of spoken word identity. 61
32065956 2020
45
A unified neurocognitive model of semantics language social behaviour and face recognition in semantic dementia. 61
32444620 2020
46
Normative brain volume reports may improve differential diagnosis of dementing neurodegenerative diseases in clinical practice. 61
32002640 2020
47
White matter basis for the hub-and-spoke semantic representation: evidence from semantic dementia. 61
32155237 2020
48
Overreliance on thematic knowledge in semantic dementia: Evidence from an eye-tracking paradigm. 61
31944788 2020
49
The interplay between control processes and feature relevance: Evidence from dual-task methodology. 61
31476964 2020
50
Striking loss of second language in bilingual patients with semantic dementia. 61
31705289 2020
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Variations for Semantic Dementia

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Expression for Semantic Dementia

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Search GEO for disease gene expression data for Semantic Dementia.
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Pathways for Semantic Dementia

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Pathways related to Semantic Dementia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Pathways of neurodegeneration - multiple diseases 36
Show member pathways
 12.68 TARDBP RPS27A PSEN1 MAPT CHMP2B C9orf72
2
Neuroscience 4
11.63 TREM2 TARDBP RPS27A PSEN1 MAPT APOE
3
Alzheimers Disease 1
11.61 PSEN1 MAPT APOE
4
Alzheimers Disease Pathway 63
10.99 PSEN1 MAPT APOE
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GO Terms for Semantic Dementia

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Cellular components related to Semantic Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.07 TREM2 TMEM106B RPS27A PSEN1 PCBP2 MAPT
2 dendrite GO:0030425 9.62 PSEN1 MAPT C9orf72 APOE
3 lysosome GO:0005764 9.46 TMEM106B GRN CHMP2B C9orf72
4 growth cone GO:0030426 9.43 PSEN1 MAPT C9orf72
5 endosome GO:0005768 9.35 TMEM106B PSEN1 GRN CHMP2B C9orf72
6 main axon GO:0044304 8.62 MAPT C9orf72

Biological processes related to Semantic Dementia according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.77 RPS27A PSEN1 APOE
2 negative regulation of gene expression GO:0010629 9.76 TARDBP PSEN1 MAPT APOE
3 autophagy GO:0006914 9.75 PSEN1 CHMP2B C9orf72
4 negative regulation of neuron apoptotic process GO:0043524 9.7 PSEN1 GRN APOE
5 positive regulation of protein import into nucleus GO:0042307 9.61 TARDBP PSEN1
6 negative regulation of protein phosphorylation GO:0001933 9.61 TARDBP PSEN1 C9orf72
7 viral life cycle GO:0019058 9.59 RPS27A CHMP2B
8 microglial cell activation GO:0001774 9.58 TREM2 MAPT
9 positive regulation of dendritic spine development GO:0060999 9.57 PSEN1 APOE
10 regulation of innate immune response GO:0045088 9.56 TREM2 APOE
11 stress granule assembly GO:0034063 9.55 MAPT C9orf72
12 lysosomal transport GO:0007041 9.54 TMEM106B GRN
13 virion assembly GO:0019068 9.51 RPS27A APOE
14 amyloid precursor protein metabolic process GO:0042982 9.49 PSEN1 APOE
15 regulation of resting membrane potential GO:0060075 9.48 TREM2 PSEN1
16 positive regulation of amyloid-beta clearance GO:1900223 9.4 TREM2 APOE
17 positive regulation of amyloid fibril formation GO:1905908 9.37 PSEN1 APOE
18 regulation of gene expression GO:0010468 9.35 TREM2 TARDBP PSEN1 PCBP2 APOE
19 gene expression GO:0010467 9.33 TARDBP PSEN1 APOE
20 microglial cell activation involved in immune response GO:0002282 9.32 TREM2 GRN
21 astrocyte activation involved in immune response GO:0002265 9.26 PSEN1 GRN
22 astrocyte activation GO:0048143 8.8 TREM2 PSEN1 MAPT

Molecular functions related to Semantic Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apolipoprotein binding GO:0034185 8.96 TREM2 MAPT
2 lipoprotein particle binding GO:0071813 8.8 TREM2 MAPT APOE
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Sources for Semantic Dementia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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