MCID: FRN031
MIFTS: 29

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions malady

Neuronal category

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

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions, also known as agramatic variant of primary progressive aphasia, is related to primary progressive aphasia and aphasia. 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. Related mouse phenotype behavior/neurological.

Description from OMIM:47 607485

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

Sources:
61UMLS, 49Orphanet, 47OMIM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
agramatic variant of primary progressive aphasia 49
progressive non-fluent aphasia 49
primary progressive aphasia 61
agramatic variant of ppa 49
non-fluent variant ppa 49


External Ids:

ICD10 via Orphanet26 G31.0
SNOMED-CT via Orphanet58 68161007
UMLS via Orphanet62 C0751706
OMIM47 607485
MESH via Orphanet36 D057178

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

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1primary progressive aphasia31.9MAPT, GRN, RPS27A
2aphasia31.9C9orf72, GRN, MAPT, TARDBP
3frontotemporal dementia31.0MAPT, PSEN1
4semantic dementia30.8MAPT, GRN, RPS27A
5apraxia30.7MAPT, GRN
6alzheimer's disease30.5SQSTM1, RPS27A, VCP, PSEN1, GRN, MAPT
7progressive supranuclear palsy30.5RPS27A, MAPT
8pick's disease30.3MAPT, PSEN1
9tauopathy30.1GRN, RPS27A, PSEN1, MAPT
10logopenic progressive aphasia10.8
11corticobasal degeneration10.6
12progressive supranuclear palsy - progressive non fluent aphasia10.5
13progressive non-fluent aphasia10.3
14transient global amnesia10.2
15dysgraphia10.2
16agnosia10.2
17n syndrome10.1
18ideomotor apraxia10.1
19foix chavany marie syndrome10.1
20variant creutzfeldt-jakob disease10.1
21cerebral atrophy10.1
22lateral sclerosis10.0TARDBP
23neuronal intranuclear inclusion disease10.0RPS27A
24pancreatic cancer10.0RPS27A
25paget's disease of bone10.0SQSTM1, VCP
26spinocerebellar ataxia type 310.0RPS27A, VCP
27myopathy10.0VCP, RPS27A
28alcoholic hepatitis10.0SQSTM1, RPS27A
29inclusion body myositis10.0RPS27A, MAPT
30cerebral amyloid angiopathy10.0MAPT, PSEN1
31hemorrhage, intracerebral10.0PSEN1, RPS27A
32mammary paget's disease10.0VCP, SQSTM1
33alzheimer disease type 210.0MAPT, PSEN1
34prion disease10.0MAPT, PSEN1
35lewy body dementia10.0MAPT, RPS27A
36down syndrome10.0MAPT, PSEN1
37creutzfeldt-jakob syndrome10.0MAPT, RPS27A
38memory impairment10.0MAPT, GRN, PSEN1
39multiple system atrophy10.0RPS27A, SQSTM1, MAPT
40spinocerebellar ataxia10.0RPS27A, MAPT
41myositis10.0RPS27A, PSEN1, MAPT
42vascular dementia10.0PSEN1, MAPT, RPS27A
43amyloid tumor10.0PSEN1, MAPT, RPS27A
44amyloidosis10.0RPS27A, PSEN1, MAPT
45huntington's disease10.0PSEN1, RPS27A, MAPT
46movement disease10.0RPS27A, MAPT
47parkinson's disease10.0VCP, MAPT, SQSTM1, PSEN1, RPS27A
48motor neuron disease10.0VCP, TARDBP, MAPT, RPS27A, SQSTM1, GRN
49dementia10.0RPS27A, PSEN1, SQSTM1, GRN, MAPT, TARDBP
50amyotrophic lateral sclerosis9.9PSEN1, SQSTM1, RPS27A, C9orf72, VCP, CHMP2B

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...

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607485

Clinical synopsis from OMIM:

607485

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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...

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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9VCP, TARDBP, MAPT, GRN, SQSTM1, PSEN1

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

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

Sources:
63UniProtKB/Swiss-Prot
See all sources

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

63
id Symbol AA change Variation SNP ID
1GRNp.Ala9AspVAR_044451

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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...

Sources:
52QIAGEN, 54Reactome, 4Cell Signaling Technology
See all sources

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
Hide members
9.3CHMP2B, RPS27A
39.2TARDBP, MAPT, PSEN1
4
Hide members
9.0SQSTM1, RPS27A

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

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
See all sources

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

(show all 12)
idCompoundScoreTop Affiliating Genes
1spec-t459.6PSEN1, MAPT
2thioflavine s459.6MAPT, RPS27A
3fluorochrome459.5RPS27A, MAPT
4formate459.3MAPT, RPS27A
54-hydroxynonenal45 2410.1RPS27A, PSEN1, MAPT
6lactacystin459.1MAPT, PSEN1, RPS27A
7valine459.0MAPT, PSEN1, RPS27A
8glycerol45 11 2410.9RPS27A, PSEN1, MAPT
9nmda45 299.9MAPT, PSEN1, RPS27A
10glutamine458.7VCP, MAPT, PSEN1, RPS27A
11threonine458.1VCP, MAPT, SQSTM1, PSEN1, RPS27A
12serine457.6VCP, MAPT, SQSTM1, PSEN1, RPS27A

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

Sources:
16Gene Ontology
See all sources

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...

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet