MCID: DMN033
MIFTS: 47

Dementia, Frontotemporal malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Dementia, Frontotemporal

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Dementia, Frontotemporal, Aliases & Descriptions:

Name: Dementia, Frontotemporal 45 10
Frontotemporal Dementia 45 9 41 42 11 43 22 60
Multiple System Tauopathy with Presenile Dementia 9 41
Frontotemporal Lobar Degeneration 9 60
Pallidopontonigral Degeneration 9 60
Dementia, Frontotemporal, with or Without Parkinsonism 45
Dementia, Frontotemporal, with Parkinsonism 41
 
Frontotemporal Dementia with Parkinsonism 41
Frontotemporal Lobe Dementia 41
Pick Disease of the Brain 60
Wilhemsen-Lynch Disease 9
Mstd 41
Ftd 41


Classifications:

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


External Ids:

OMIM45 600274
Disease Ontology9 DOID:9255
SNOMED-CT55 42369001
ICD9CM27 331.19

Summaries for Dementia, Frontotemporal

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OMIM:45 Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar... (600274) more...

MalaCards based summary: Dementia, Frontotemporal, also known as frontotemporal dementia, is related to dementia and tauopathy, and has symptoms including autosomal dominant inheritance, hyperorality and frontal lobe dementia. An important gene associated with Dementia, Frontotemporal is MAPT (microtubule-associated protein tau), and among its related pathways are Neuroscience and Alzheimer's disease. The compounds spec-t and vitamin b12 have been mentioned in the context of this disorder. Affiliated tissues include brain and temporal lobe, and related mouse phenotype other.

Disease Ontology:9 A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.

NIH Rare Diseases:41 Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e.g., difficulty making or understanding speech). spatial skills and memory remain intact. there is a strong genetic component to the disease; it often runs in families. there is no cure for frontotemporal dementia at this time, as a result treatment remains supportive.although the name and classification of ftd has been a topic of discussion for over a century, the current classification 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. you can click on the links to view the gard pages on these conditions. last updated: 8/22/2011

NINDS:42 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.

Related Diseases for Dementia, Frontotemporal

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Diseases in the Dementia, Frontotemporal family:

Grn-Related Frontotemporal Dementia Tardbp-Related Frontotemporal Dementia
Chmp2b-Related Frontotemporal Dementia

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

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1dementia31.2PSEN1, MAPT
2tauopathy31.0MAPT, PSEN1
3semantic dementia30.9MAPT
4alzheimer disease30.9MAPT, PSEN1
5pick disease30.7PSEN1, MAPT
6myositis30.4PSEN1, MAPT
7amyloidosis30.4MAPT, PSEN1
8vascular dementia30.2MAPT, PSEN1
9prion disease30.1MAPT, PSEN1
10amyotrophic lateral sclerosis 130.1MAPT, PSEN1
11lateral sclerosis11.0
12neuronitis11.0
13motor neuron disease10.9
14inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.8
15aphasia10.8
16myopathy10.8
17behavioral variant of frontotemporal dementia10.7
18paget disease of bone10.7
19inclusion body myopathy with paget disease of bone and frontotemporal dementia10.6
20cerebritis10.6
21schizophrenia10.6
22amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.6
23amyotrophic lateral sclerosis 15, with or without frontotemporal dementia10.5
24dementia, familial, nonspecific10.5
25inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.5
26amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia10.5
27inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 310.4
28intracranial hypotension10.4
29pathological gambling10.4
30c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia10.4
31tardbp-related frontotemporal dementia10.4
32inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 210.4
33frontotemporal dementia and/or amyotrophic lateral sclerosis 210.4
34bipolar disorder10.4
35vcp-related amyotrophic lateral sclerosis/frontotemporal dementia10.4
36ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia10.4
37prosopagnosia10.3
38inclusion body myositis10.3
39neuronal ceroid lipofuscinosis10.3
40spasticity10.3
41supranuclear palsy, progressive10.3
42ftdals210.3
43amyotrophic lateral sclerosis type 1410.3
44amyotrophic lateral sclerosis type 1510.3
45apraxia10.3
46vitamin b12 deficiency10.3
47grn-related frontotemporal dementia10.3
48progressive non-fluent aphasia10.3
49cerebral atrophy10.3
50argyrophilic grain disease10.3

Graphical network of the top 20 diseases related to Dementia, Frontotemporal:



Diseases related to dementia, frontotemporal

Symptoms for Dementia, Frontotemporal

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Symptoms by clinical synopsis from OMIM:

600274

Clinical features from OMIM:

600274

HPO human phenotypes related to Dementia, Frontotemporal:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyperorality HP:0000710
3 frontal lobe dementia HP:0000727
4 disinhibition HP:0000734
5 irritability HP:0000737
6 apathy HP:0000741
7 inappropriate laughter HP:0000748
8 personality changes HP:0000751
9 parkinsonism HP:0001300
10 frontotemporal dementia HP:0002145
11 language impairment HP:0002463
12 primitive reflexes (palmomental, snout, glabellar) HP:0002476
13 neuronal loss in central nervous system HP:0002529
14 polyphagia HP:0002591
15 amyotrophic lateral sclerosis HP:0007354
16 inappropriate sexual behavior HP:0008768

Drugs & Therapeutics for Dementia, Frontotemporal

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Drug clinical trials:

Search ClinicalTrials for Dementia, Frontotemporal

Search NIH Clinical Center for Dementia, Frontotemporal

Genetic Tests for Dementia, Frontotemporal

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Genetic tests related to Dementia, Frontotemporal:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia22

Anatomical Context for Dementia, Frontotemporal

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MalaCards organs/tissues related to Dementia, Frontotemporal:

31
Brain, Temporal lobe

Animal Models for Dementia, Frontotemporal or affiliated genes

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MGI Mouse Phenotypes related to Dementia, Frontotemporal:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.1MAPT, PSEN1

Publications for Dementia, Frontotemporal

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Articles related to Dementia, Frontotemporal:

idTitleAuthorsYear
1
Distinct patterns of olfactory impairment in Alzheimer's disease, semantic dementia, frontotemporal dementia, and corticobasal degeneration. (17270222)
2007
2
Neurocognitive differential diagnosis of dementing diseases: Alzheimer's Dementia, Vascular Dementia, Frontotemporal Dementia, and Major Depressive Disorder. (17000529)
2006

Variations for Dementia, Frontotemporal

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UniProtKB/Swiss-Prot genetic disease variations for Dementia, Frontotemporal:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1MAPTp.Gly589ValVAR_010345
2MAPTp.Asn596LysVAR_010346
3MAPTp.Pro618LeuVAR_010348
4MAPTp.Pro618SerVAR_010349
5MAPTp.Ser622AsnVAR_010350
6MAPTp.Val654MetVAR_010351
7MAPTp.Arg5HisVAR_019660rs63750959
8MAPTp.Leu583ValVAR_019662
9MAPTp.Asn613HisVAR_019663
10MAPTp.Glu659ValVAR_019666
11MAPTp.Lys634MetVAR_037440
12PSEN1p.Leu113ProVAR_016215

Clinvar genetic disease variations for Dementia, Frontotemporal:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1MAPTNM_016835.4(MAPT): c.1853C> T (p.Pro618Leu)single nucleotide variantPathogenicrs63751273GRCh37Chr 17, 44087755: 44087755
2MAPTNM_016835.4(MAPT): c.1766G> T (p.Gly589Val)single nucleotide variantPathogenicrs63750376GRCh37Chr 17, 44074023: 44074023
3MAPTNM_016835.4(MAPT): c.2167C> T (p.Arg723Trp)single nucleotide variantPathogenicrs63750424GRCh37Chr 17, 44101427: 44101427
4MAPTNM_016835.4(MAPT): c.1866+14C> Tsingle nucleotide variantPathogenicrs63750972GRCh37Chr 17, 44087782: 44087782
5MAPTMAPT, IVS10, A-G, +13single nucleotide variantPathogenic
6MAPTMAPT, IVS10, C-T, +16single nucleotide variantPathogenic
7MAPTMAPT, IVS10, G-A, +1single nucleotide variantPathogenic
8MAPTNM_016835.4(MAPT): c.1960G> A (p.Val654Met)single nucleotide variantPathogenicrs63750570GRCh37Chr 17, 44095995: 44095995
9MAPTNM_016835.4(MAPT): c.1788T> G (p.Asn596Lys)single nucleotide variantPathogenicrs63750756GRCh37Chr 17, 44087690: 44087690
10MAPTNM_016835.4(MAPT): c.1865G> A (p.Ser622Asn)single nucleotide variantPathogenicrs63751165GRCh37Chr 17, 44087767: 44087767
11MAPTNM_016835.4(MAPT): c.1852C> T (p.Pro618Ser)single nucleotide variantPathogenicrs63751438GRCh37Chr 17, 44087754: 44087754
12MAPTNM_016835.4(MAPT): c.1839T> C (p.Asn613=)single nucleotide variantPathogenicrs63750912GRCh37Chr 17, 44087741: 44087741
13MAPTNM_016835.4(MAPT): c.1976A> T (p.Glu659Val)single nucleotide variantPathogenicrs63750711GRCh37Chr 17, 44096011: 44096011
14MAPTNM_016835.4(MAPT): c.14G> A (p.Arg5His)single nucleotide variantPathogenicrs63750959GRCh37Chr 17, 44039717: 44039717
15MAPTMAPT, IVS10, T-C, +11single nucleotide variantPathogenic
16MAPTNM_016835.4(MAPT): c.1747C> G (p.Leu583Val)single nucleotide variantPathogenicrs63750349GRCh37Chr 17, 44074004: 44074004
17MAPTNM_016835.4(MAPT): c.1901A> T (p.Lys634Met)single nucleotide variantPathogenicrs63750092GRCh37Chr 17, 44091643: 44091643
18PSEN1NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro)single nucleotide variantPathogenicrs63751399GRCh37Chr 14, 73637755: 73637755

Expression for genes affiliated with Dementia, Frontotemporal

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Search GEO for disease gene expression data for Dementia, Frontotemporal.

Pathways for genes affiliated with Dementia, Frontotemporal

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Pathways related to Dementia, Frontotemporal according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MAPT, PSEN1
2
Show member pathways
Alzheimers Disease36
9.1MAPT, PSEN1
39.1MAPT, PSEN1

Compounds for genes affiliated with Dementia, Frontotemporal

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Dementia, Frontotemporal according to GeneCards Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
1spec-t439.5MAPT, PSEN1
2vitamin b12439.5MAPT, PSEN1
34-hydroxynonenal43 2410.5PSEN1, MAPT
4lactacystin439.5MAPT, PSEN1
5kainate43 2810.5MAPT, PSEN1
6carbachol43 28 1211.5PSEN1, MAPT
7choline43 24 1211.4MAPT, PSEN1
8folate439.4MAPT, PSEN1
9valine439.4PSEN1, MAPT
10glycerol43 24 1211.4MAPT, PSEN1
11methionine439.4MAPT, PSEN1
12nmda43 2810.4PSEN1, MAPT
13glycogen43 2410.4MAPT, PSEN1
14proline439.4MAPT, PSEN1
15glutamine439.3PSEN1, MAPT
16aspartate439.3MAPT, PSEN1
17cycloheximide439.3MAPT, PSEN1
18h2o2439.2PSEN1, MAPT
19arginine439.2MAPT, PSEN1
20threonine439.1MAPT, PSEN1
21retinoic acid43 2410.1MAPT, PSEN1
22glutamate439.0PSEN1, MAPT
23alanine438.8MAPT, PSEN1

GO Terms for genes affiliated with Dementia, Frontotemporal

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Cellular components related to Dementia, Frontotemporal according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonGO:00304249.1MAPT, PSEN1
2growth coneGO:00304268.8MAPT, PSEN1

Biological processes related to Dementia, Frontotemporal according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:00017649.1MAPT, PSEN1

Products for genes affiliated with Dementia, Frontotemporal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dementia, Frontotemporal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet