MCID: FRN031
MIFTS: 43

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions malady

Genetic diseases, Neuronal diseases, Rare diseases categories

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

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48OMIM, 34MalaCards
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MalaCards: Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions, also known as agramatic variant of primary progressive aphasia, is related to aphasia and frontotemporal dementia. 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 no phenotypic analysis and hematopoietic system.

Description from OMIM:48 607485

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

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48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
agramatic variant of primary progressive aphasia:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood


Aliases & Descriptions:

frontotemporal lobar degeneration with ubiquitin-positive inclusions 48
agramatic variant of primary progressive aphasia 50
progressive non-fluent aphasia 50
primary progressive aphasia 63
agramatic variant of ppa 50
non-fluent variant ppa 50


External Ids:

ICD10 via Orphanet27 G31.0
UMLS via Orphanet64 C0751706
OMIM48 607485
MESH via Orphanet37 D057178

Related Diseases for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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18GeneCards, 19GeneDecks
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Diseases related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1aphasia31.3C9orf72, MAPT, GRN, TARDBP
2frontotemporal dementia30.8MAPT, PSEN1
3semantic dementia30.6GRN, MAPT, RPS27A
4primary progressive aphasia30.6RPS27A, MAPT, GRN
5dementia30.6PSEN1, VCP, RPS27A, MAPT, SQSTM1, GRN
6alzheimer's disease30.3VCP, PSEN1, RPS27A, MAPT, SQSTM1, GRN
7progressive non-fluent aphasia10.9
8progressive supranuclear palsy - progressive non fluent aphasia10.5
9corticobasal degeneration10.4
10logopenic progressive aphasia10.4
11neuronal intranuclear inclusion disease10.1RPS27A
12lateral sclerosis10.1TARDBP
13apraxia10.1MAPT, GRN
14inclusion body myositis10.1MAPT, RPS27A
15alcoholic hepatitis10.1RPS27A, SQSTM1
16hemorrhage, intracerebral10.0RPS27A, PSEN1
17progressive supranuclear palsy10.0RPS27A, MAPT
18pick's disease10.0MAPT, PSEN1
19lewy body dementia10.0MAPT, RPS27A
20alzheimer disease type 210.0MAPT, PSEN1
21prion disease10.0PSEN1, MAPT
22creutzfeldt-jakob disease10.0MAPT, RPS27A
23cerebral amyloid angiopathy10.0PSEN1, MAPT
24spinocerebellar ataxia10.0RPS27A, MAPT
25multiple system atrophy10.0RPS27A, MAPT, SQSTM1
26mammary paget's disease10.0SQSTM1, VCP
27memory impairment10.0GRN, MAPT, PSEN1
28paget's disease of bone10.0VCP, SQSTM1
29movement disease10.0RPS27A, MAPT
30spinocerebellar ataxia type 310.0RPS27A, VCP
31vascular dementia10.0MAPT, RPS27A, PSEN1
32amyloid tumor10.0MAPT, RPS27A, PSEN1
33teratocarcinoma10.0MAPT, PSEN1
34myositis10.0MAPT, RPS27A, PSEN1
35amyloidosis10.0PSEN1, RPS27A, MAPT
36huntington's disease10.0PSEN1, RPS27A, MAPT
37tauopathy10.0GRN, MAPT, RPS27A, PSEN1
38brain disease10.0MAPT, PSEN1
39parkinson's disease9.9VCP, PSEN1, RPS27A, MAPT, SQSTM1
40motor neuron disease9.9VCP, RPS27A, MAPT, SQSTM1, GRN, TARDBP
41breast cancer9.9GRN, SQSTM1, MAPT, RPS27A, VCP
42amyotrophic lateral sclerosis9.7TARDBP, GRN, SQSTM1, MAPT, RPS27A, PSEN1

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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48OMIM
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Symptoms by clinical synopsis from OMIM:

607485

Clinical features from OMIM:

607485

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions

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

Search CenterWatch for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions

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

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

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34MalaCards
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MalaCards organs/tissues related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

34
Brain

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

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38MGI
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MGI Mouse Phenotypes related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9TARDBP, GRN, MAPT, C9orf72
2MP:00053978.0VCP, PSEN1, MAPT, SQSTM1, GRN, TARDBP
3MP:00053868.0VCP, PSEN1, MAPT, SQSTM1, GRN, TARDBP
4MP:00053847.9VCP, PSEN1, MAPT, SQSTM1, GRN, TARDBP
5MP:00053877.8TREM2, VCP, PSEN1, MAPT, SQSTM1, GRN
6MP:00036317.7VCP, PSEN1, MAPT, SQSTM1, GRN, TARDBP

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

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53PubMed
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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
TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions. (17356379)
2007
5
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. (17353379)
2007
6
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. (17334266)
2007
7
TDP-43 pathologic lesions and clinical phenotype in frontotemporal lobar degeneration with ubiquitin-positive inclusions. (17923628)
2007
8
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

65
id Symbol AA change Variation ID SNP ID
1GRNp.Ala9AspVAR_044451

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

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1GRNGRN, IVS0, G-C, +5single nucleotide variantPathogenic
2GRNNM_002087.2(GRN): c.373C> T (p.Gln125Ter)single nucleotide variantPathogenicrs63750077GRCh37Chr 17, 42427619: 42427619
3GRNNM_002087.2(GRN): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs63751006GRCh37Chr 17, 42426534: 42426534
4GRNNM_002087.2(GRN): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs63750331GRCh37Chr 17, 42426535: 42426535
5GRNGRN, 4-BP INS, NT90insertionPathogenic
6GRNGRN, 4-BP DEL, NT388deletionPathogenic
7GRNGRN, IVS8, G-A, +1single nucleotide variantPathogenic
8GRNNM_002087.2(GRN): c.26C> A (p.Ala9Asp)single nucleotide variantPathogenicrs63751243GRCh37Chr 17, 42426558: 42426558
9GRNNM_002087.2(GRN): c.1477C> T (p.Arg493Ter)single nucleotide variantPathogenicrs63751294GRCh37Chr 17, 42429772: 42429772
10GRNGRN, 1-BP INS, 1145AinsertionPathogenic
11GRNGRN, IVS6AS, A-G, -2single nucleotide variantPathogenic
12GRNNM_002087.2(GRN): c.813_816delCACT (p.Thr272Serfs)deletionPathogenicrs63749877GRCh37Chr 17, 42428509: 42428512
13GRNGRN, 1-BP DEL, 102CdeletionPathogenic
14GRNGRN, 1-BP DEL, 154AdeletionPathogenic
15GRNGRN, IVS6AS, G-A, -1single nucleotide variantPathogenic

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions

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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51PathCards, 54QIAGEN, 39NCBI BioSystems Database, 56Reactome, 5Cell Signaling Technology, 31KEGG
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Compounds for genes affiliated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1spec-t469.9PSEN1, MAPT
2vitamin b12469.8MAPT, PSEN1
3thioflavine s469.6MAPT, RPS27A
4fluorochrome469.5RPS27A, MAPT
5formate469.5RPS27A, MAPT
64-hydroxynonenal46 2510.3MAPT, RPS27A, PSEN1
7lactacystin469.3PSEN1, RPS27A, MAPT
8valine469.2PSEN1, RPS27A, MAPT
9glycerol46 25 1211.2MAPT, RPS27A, PSEN1
10nmda46 3010.1MAPT, RPS27A, PSEN1
11glycogen46 2510.0MAPT, RPS27A, PSEN1
12glutamine468.8MAPT, RPS27A, PSEN1, VCP
13proline468.7MAPT, RPS27A, PSEN1
14cysteine468.6PSEN1, RPS27A, MAPT, GRN
15threonine468.2VCP, PSEN1, RPS27A, MAPT, SQSTM1
16serine468.1SQSTM1, MAPT, RPS27A, PSEN1, VCP

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

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17Gene Ontology
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Cellular components related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1autophagic vacuoleGO:0057769.4SQSTM1, C9orf72

Biological processes related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of proteasomal ubiquitin-dependent protein catabolic processGO:0324369.6PSEN1, VCP
2autophagyGO:0069149.4SQSTM1, C9orf72
3Notch receptor processingGO:0072209.3PSEN1, RPS27A
4cell deathGO:0082199.0TARDBP, GRN, CHMP2B, C9orf72
5endosomal transportGO:0161978.7SQSTM1, RPS27A, CHMP2B
6positive regulation of apoptotic processGO:0430658.4SQSTM1, RPS27A, PSEN1

Molecular functions related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1poly(A) RNA bindingGO:0448228.4TARDBP, GRN, RPS27A, VCP

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

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet