MCID: FRN031
MIFTS: 48

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions malady

Genetic diseases, Rare diseases, Mental diseases categories

Aliases & Classifications for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Sources:
60UMLS, 45OMIM, 10diseasecard, 41NIH Rare Diseases, 22GTR, 42NINDS, 43Novoseek
See all sources

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions, Aliases & Descriptions:

Name: Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions 45
Aphasia, Primary Progressive 45 10 41
Primary Progressive Aphasia 41 42 60
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 45 60
Frontotemporal Dementia, Ubiquitin-Positive 41 22
Dementia, Hereditary Dysphasic Disinhibition 41
 
Primary Progressive Aphasia Syndrome 41
Aphasia Primary Progressive 43
Frontotemporal Dementia 60
Mesulam Syndrome 41
Hddd 41
Ppa 41


Classifications:

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


External Ids:

OMIM45 607485

Summaries for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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OMIM:45 Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; 600274) which shows variable phenotypic expression,... (607485) more...

MalaCards based summary: Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions, also known as aphasia, primary progressive, is related to dementia and aphasia, and has symptoms including autosomal dominant inheritance, hyperorality and agitation. An important gene associated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions is GRN (granulin), and among its related pathways are Alzheimers Disease Pathway and p75(NTR)-mediated signaling. The compounds spec-t and vitamin b12 have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are hematopoietic system and behavior/neurological.

NIH Rare Diseases:41 Primary progressive aphasia (ppa) is a disorder characterized by language disturbance, including difficulty making or understanding speech (aphasia). in the early stages, ppa often causes difficulty with naming, word finding, or word comprehension. in later stages, affected people often become mute and lose their ability to communicate. ppa may sometimes be the initial manifestation of another neurodegenerative disease, such as frontotemporal dementia or alzheimer disease. in some cases, ppa is caused by mutations in the grn gene and is inherited in an autosomal dominant maner. ppa can be classified into three distinct types which include progressive non-fluent aphasia (pnfa), semantic dementia (sd), and the logopenic variant (lpa). last updated: 9/10/2014

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 Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Diseases related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1dementia31.3PSEN1, MAPT
2aphasia31.0MAPT, GRN, TARDBP
3apraxia31.0MAPT, GRN
4semantic dementia30.6RPS27A, MAPT, GRN
5dementia, frontotemporal30.6MAPT, PSEN1
6pick disease30.2MAPT, PSEN1
7supranuclear palsy, progressive30.1RPS27A, MAPT
8creutzfeldt-jakob disease30.0RPS27A, MAPT
9tauopathy29.8PSEN1, RPS27A, MAPT, GRN
10amyloidosis29.7MAPT, RPS27A, PSEN1
11alzheimer disease29.2PSEN1, RPS27A, MAPT, SQSTM1, GRN, TARDBP
12grn-related frontotemporal dementia10.7
13corticobasal degeneration10.6
14logopenic progressive aphasia10.4
15cerebritis10.4
16neuronal intranuclear inclusion disease10.3RPS27A
17dysgraphia10.3
18transient global amnesia10.3
19agnosia10.3
20learning disability10.3
21progressive non-fluent aphasia10.3
22neuronitis10.1
23ideomotor apraxia10.1
24agraphia10.1
25reading disorder10.1
26speech disorder10.1
27foix chavany marie syndrome10.1
28cerebral atrophy10.1
29hemorrhage, intracerebral10.1RPS27A, PSEN1
30alcoholic hepatitis10.0RPS27A, SQSTM1
31hypertensive retinopathy10.0
32alzheimer disease-210.0MAPT, PSEN1
33prion disease10.0PSEN1, MAPT
34cerebral amyloid angiopathy10.0PSEN1, MAPT
35inclusion body myositis10.0RPS27A, MAPT
36dementia, lewy body9.9MAPT, RPS27A
37spinocerebellar ataxia9.9MAPT, RPS27A
38brain disease9.9PSEN1, MAPT
39movement disease9.9RPS27A, MAPT
40parkinson disease, late-onset9.8MAPT, RPS27A
41vascular dementia9.8MAPT, RPS27A, PSEN1
42multiple system atrophy9.8SQSTM1, MAPT, RPS27A
43myositis9.8PSEN1, RPS27A, MAPT
44teratocarcinoma9.7PSEN1, MAPT
45huntington disease9.7MAPT, RPS27A, PSEN1
46motor neuron disease9.4RPS27A, MAPT, SQSTM1, GRN, TARDBP
47breast cancer9.4GRN, SQSTM1, MAPT, RPS27A
48amyotrophic lateral sclerosis 19.2PSEN1, RPS27A, MAPT, SQSTM1, GRN, TARDBP

Graphical network of the top 20 diseases related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:



Diseases related to frontotemporal lobar degeneration with ubiquitin-positive inclusions

Symptoms for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Symptoms by clinical synopsis from OMIM:

607485

Clinical features from OMIM:

607485

HPO human phenotypes related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

(show all 21)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyperorality HP:0000710
3 agitation HP:0000713
4 disinhibition HP:0000734
5 hallucinations HP:0000738
6 apathy HP:0000741
7 personality changes HP:0000751
8 parkinsonism HP:0001300
9 cerebral cortical atrophy HP:0002120
10 frontotemporal dementia HP:0002145
11 gliosis HP:0002171
12 apraxia HP:0002186
13 mutism HP:0002300
14 memory impairment HP:0002354
15 dysphasia HP:0002357
16 aphasia HP:0002381
17 neuronal loss in central nervous system HP:0002529
18 polyphagia HP:0002591
19 dilation of lateral ventricles HP:0006956
20 progressive language deterioration HP:0007064
21 repetitive compulsive behavior HP:0008762

Drugs & Therapeutics for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Drug clinical trials:

Search ClinicalTrials for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions

Search NIH Clinical Center for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions

Genetic Tests for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Genetic tests related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia, Ubiquitin-Positive22

Anatomical Context for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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MalaCards organs/tissues related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

31
Brain

Animal Models for Frontotemporal Lobar Degeneration with Ubiquitin-Positive... or affiliated genes

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MGI Mouse Phenotypes related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.2TARDBP, GRN, SQSTM1, MAPT, PSEN1
2MP:00053868.2PSEN1, MAPT, SQSTM1, GRN, TARDBP
3MP:00053878.1TARDBP, GRN, SQSTM1, MAPT, PSEN1
4MP:00107688.1TARDBP, GRN, SQSTM1, MAPT, PSEN1
5MP:00053848.0PSEN1, MAPT, SQSTM1, GRN, TARDBP
6MP:00036317.8PSEN1, MAPT, SQSTM1, GRN, TARDBP

Publications for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Articles related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

idTitleAuthorsYear
1
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry. (18379439)
2008
2
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. (17278999)
2007
3
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update. (17596717)
2007
4
Appearance pattern of TDP-43 in Japanese frontotemporal lobar degeneration with ubiquitin-positive inclusions. (17507161)
2007
5
TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions. (17356379)
2007
6
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. (17353379)
2007
7
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. (17334266)
2007
8
TDP-43 pathologic lesions and clinical phenotype in frontotemporal lobar degeneration with ubiquitin-positive inclusions. (17923628)
2007
9
Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. (17003490)
2006

Variations for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

62
id Symbol AA change Variation ID SNP ID
1GRNp.Ala9AspVAR_044451

Clinvar genetic disease variations for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

6 (show all 29)
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
5MAPTNM_016835.4(MAPT): c.1960G> A (p.Val654Met)single nucleotide variantPathogenicrs63750570GRCh37Chr 17, 44095995: 44095995
6MAPTNM_016835.4(MAPT): c.1788T> G (p.Asn596Lys)single nucleotide variantPathogenicrs63750756GRCh37Chr 17, 44087690: 44087690
7MAPTNM_016835.4(MAPT): c.1865G> A (p.Ser622Asn)single nucleotide variantPathogenicrs63751165GRCh37Chr 17, 44087767: 44087767
8MAPTNM_016835.4(MAPT): c.1852C> T (p.Pro618Ser)single nucleotide variantPathogenicrs63751438GRCh37Chr 17, 44087754: 44087754
9MAPTNM_016835.4(MAPT): c.1839T> C (p.Asn613=)single nucleotide variantPathogenicrs63750912GRCh37Chr 17, 44087741: 44087741
10MAPTNM_016835.4(MAPT): c.1976A> T (p.Glu659Val)single nucleotide variantPathogenicrs63750711GRCh37Chr 17, 44096011: 44096011
11MAPTNM_016835.4(MAPT): c.14G> A (p.Arg5His)single nucleotide variantPathogenicrs63750959GRCh37Chr 17, 44039717: 44039717
12MAPTNM_016835.4(MAPT): c.1747C> G (p.Leu583Val)single nucleotide variantPathogenicrs63750349GRCh37Chr 17, 44074004: 44074004
13MAPTNM_016835.4(MAPT): c.1901A> T (p.Lys634Met)single nucleotide variantPathogenicrs63750092GRCh37Chr 17, 44091643: 44091643
14GRNGRN, IVS0, G-C, +5single nucleotide variantPathogenic
15GRNNM_002087.2(GRN): c.373C> T (p.Gln125Ter)single nucleotide variantPathogenicrs63750077GRCh37Chr 17, 42427619: 42427619
16GRNNM_002087.2(GRN): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs63751006GRCh37Chr 17, 42426534: 42426534
17GRNNM_002087.2(GRN): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs63750331GRCh37Chr 17, 42426535: 42426535
18GRNGRN, 4-BP INS, NT90insertionPathogenic
19GRNGRN, 4-BP DEL, NT388deletionPathogenic
20GRNGRN, IVS8, G-A, +1single nucleotide variantPathogenic
21GRNNM_002087.2(GRN): c.26C> A (p.Ala9Asp)single nucleotide variantPathogenicrs63751243GRCh37Chr 17, 42426558: 42426558
22GRNNM_002087.2(GRN): c.1477C> T (p.Arg493Ter)single nucleotide variantPathogenicrs63751294GRCh37Chr 17, 42429772: 42429772
23GRNGRN, 1-BP INS, 1145AinsertionPathogenic
24GRNGRN, IVS6AS, A-G, -2single nucleotide variantPathogenic
25GRNNM_002087.2(GRN): c.813_816delCACT (p.Thr272Serfs)deletionPathogenicrs63749877GRCh37Chr 17, 42428509: 42428512
26GRNGRN, 1-BP DEL, 102CdeletionPathogenic
27GRNGRN, 1-BP DEL, 154AdeletionPathogenic
28PSEN1NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro)single nucleotide variantPathogenicrs63751399GRCh37Chr 14, 73637755: 73637755
29GRNGRN, IVS6AS, G-A, -1single nucleotide variantPathogenic

Expression for genes affiliated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Search GEO for disease gene expression data for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions.

Pathways for genes affiliated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Compounds for genes affiliated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Sources:
43Novoseek, 28IUPHAR, 2BitterDB, 49PharmGKB, 12DrugBank, 24HMDB
See all sources

Compounds related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards Suite gene sharing:

(show all 25)
idCompoundScoreTop Affiliating Genes
1spec-t439.9PSEN1, MAPT
2vitamin b12439.8MAPT, PSEN1
3thioflavine s439.6MAPT, RPS27A
4fluorochrome439.6MAPT, RPS27A
5formate439.5MAPT, RPS27A
6kainate43 2810.5MAPT, PSEN1
7silver439.4MAPT, RPS27A
8chloroquine43 2 49 28 1213.3RPS27A, MAPT
9adpribose439.2MAPT, RPS27A
10biotin43 24 1211.2RPS27A, PSEN1
114-hydroxynonenal43 2410.1MAPT, RPS27A, PSEN1
12lactacystin439.1MAPT, RPS27A, PSEN1
13valine439.1PSEN1, RPS27A, MAPT
14glycerol43 24 1211.1MAPT, RPS27A, PSEN1
15nmda43 2810.1PSEN1, RPS27A, MAPT
16glycogen43 2410.1MAPT, RPS27A, PSEN1
17proline439.1MAPT, RPS27A, PSEN1
18glutamine439.0MAPT, RPS27A, PSEN1
19aspartate439.0PSEN1, RPS27A, MAPT
20cycloheximide439.0MAPT, RPS27A, PSEN1
21sodium dodecylsulfate438.9MAPT, RPS27A
22h2o2438.9MAPT, RPS27A, PSEN1
23cysteine438.7GRN, MAPT, RPS27A, PSEN1
24threonine438.5PSEN1, RPS27A, MAPT, SQSTM1
25serine438.3PSEN1, RPS27A, MAPT, SQSTM1

GO Terms for genes affiliated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Cellular components related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:00314109.4SQSTM1, PSEN1
2growth coneGO:00304269.3MAPT, PSEN1

Biological processes related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:00017649.5MAPT, PSEN1
2Notch receptor processingGO:00072209.4RPS27A, PSEN1
3T cell receptor signaling pathwayGO:00508529.2RPS27A, PSEN1
4Notch signaling pathwayGO:00072199.2RPS27A, PSEN1
5endosomal transportGO:00161979.1SQSTM1, RPS27A
6apoptotic signaling pathwayGO:00971908.7SQSTM1, RPS27A
7positive regulation of apoptotic processGO:00430658.7SQSTM1, RPS27A, PSEN1
8negative regulation of apoptotic processGO:00430668.6PSEN1, RPS27A, SQSTM1

Products for genes affiliated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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Sources for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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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