MCID: FRN031
MIFTS: 35

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions malady

Neuronal diseases category

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

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46OMIM, 32MalaCards
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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 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 Endosomal Sorting Complex Required For Transport (ESCRT). The compounds spec-t and thioflavine s have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype behavior/neurological.

Description from OMIM:46 607485

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

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Sources:
60UMLS, 48Orphanet, 46OMIM, 26ICD10 via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
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 46
agramatic variant of primary progressive aphasia 48
progressive non-fluent aphasia 48
primary progressive aphasia 60
agramatic variant of ppa 48
non-fluent variant ppa 48


External Ids:

ICD10 via Orphanet26 G31.0
UMLS via Orphanet61 C0751706
OMIM46 607485
MESH via Orphanet35 D057178

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

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17GeneCards, 18GeneDecks
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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 49)
idRelated DiseaseScoreTop Affiliating Genes
1aphasia31.9TARDBP, MAPT, GRN, C9orf72
2dementia31.1RPS27A, PSEN1, VCP, TARDBP, MAPT, GRN
3frontotemporal dementia31.0PSEN1, MAPT
4alzheimer's disease30.8RPS27A, PSEN1, SQSTM1, GRN, MAPT, TARDBP
5primary progressive aphasia30.8MAPT, GRN, RPS27A
6apraxia30.7GRN, MAPT
7semantic dementia30.5RPS27A, GRN, MAPT
8pick's disease30.4PSEN1, MAPT
9progressive supranuclear palsy30.4RPS27A, MAPT
10tauopathy30.3RPS27A, PSEN1, GRN, MAPT
11progressive supranuclear palsy - progressive non fluent aphasia10.5
12logopenic progressive aphasia10.4
13cerebritis10.3
14transient global amnesia10.2
15neuronitis10.2
16dysgraphia10.2
17agnosia10.2
18progressive non-fluent aphasia10.2
19ideomotor apraxia10.1
20learning disability10.1
21reading disorder10.1
22lateral sclerosis10.0TARDBP
23neuronal intranuclear inclusion disease10.0RPS27A
24pancreatic cancer10.0RPS27A
25paget's disease of bone10.0VCP, SQSTM1
26spinocerebellar ataxia type 310.0RPS27A, VCP
27myopathy10.0VCP, RPS27A
28alcoholic hepatitis10.0RPS27A, SQSTM1
29inclusion body myositis10.0MAPT, RPS27A
30cerebral amyloid angiopathy10.0MAPT, PSEN1
31hemorrhage, intracerebral10.0PSEN1, RPS27A
32mammary paget's disease10.0SQSTM1, VCP
33alzheimer disease type 210.0PSEN1, MAPT
34prion disease10.0PSEN1, MAPT
35lewy body dementia10.0RPS27A, MAPT
36down syndrome10.0MAPT, PSEN1
37creutzfeldt-jakob syndrome10.0MAPT, RPS27A
38memory impairment10.0MAPT, GRN, PSEN1
39multiple system atrophy10.0MAPT, SQSTM1, RPS27A
40spinocerebellar ataxia10.0MAPT, RPS27A
41myositis10.0RPS27A, PSEN1, MAPT
42vascular dementia10.0MAPT, PSEN1, RPS27A
43amyloid tumor10.0RPS27A, PSEN1, MAPT
44amyloidosis10.0MAPT, PSEN1, RPS27A
45huntington's disease10.0RPS27A, PSEN1, MAPT
46movement disease10.0MAPT, RPS27A
47parkinson's disease10.0RPS27A, PSEN1, SQSTM1, MAPT, VCP
48motor neuron disease10.0VCP, TARDBP, MAPT, GRN, SQSTM1, RPS27A
49amyotrophic lateral sclerosis9.9VCP, TARDBP, MAPT, GRN, CHMP2B, C9orf72

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

Clinical Features for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

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46OMIM
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Clinical features from OMIM:

607485

Clinical synopsis from OMIM:

607485

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

32
Brain

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

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36MGI
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MGI Mouse Phenotypes related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9VCP, TARDBP, MAPT, GRN, SQSTM1, PSEN1

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

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

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

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

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

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Sources:
1BioGPS, 15Gene 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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Sources:
51QIAGEN, 53Reactome, 4Cell Signaling Technology
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Pathways related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7MAPT, PSEN1
2
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9.3CHMP2B, RPS27A
39.2TARDBP, MAPT, PSEN1
4
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9.0SQSTM1, RPS27A

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

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1spec-t449.6PSEN1, MAPT
2thioflavine s449.6MAPT, RPS27A
3fluorochrome449.5RPS27A, MAPT
4formate449.3MAPT, RPS27A
54-hydroxynonenal44 2410.1RPS27A, PSEN1, MAPT
6lactacystin449.1MAPT, PSEN1, RPS27A
7valine449.0MAPT, PSEN1, RPS27A
8glycerol44 11 2410.9RPS27A, PSEN1, MAPT
9nmda44 289.9MAPT, PSEN1, RPS27A
10glutamine448.7VCP, MAPT, PSEN1, RPS27A
11threonine448.1VCP, MAPT, SQSTM1, PSEN1, RPS27A
12serine447.6VCP, MAPT, SQSTM1, PSEN1, RPS27A

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

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16Gene Ontology
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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:0324369.4VCP, PSEN1
2Notch receptor processingGO:0072209.1RPS27A, PSEN1
3cell deathGO:0082198.9TARDBP, GRN, CHMP2B, C9orf72
4endosomal transportGO:0161978.7CHMP2B, SQSTM1, RPS27A
5positive regulation of apoptotic processGO:0430658.6SQSTM1, PSEN1, RPS27A

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet