HDDD
MCID: FRN027
MIFTS: 13

Frontotemporal Dementia, Ubiquitin-Positive (HDDD) malady

Rare diseases, Mental diseases categories
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Summaries for Frontotemporal Dementia, Ubiquitin-Positive

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MalaCards based summary: Frontotemporal Dementia, Ubiquitin-Positive, also known as dementia, hereditary dysphasic disinhibition, is related to frontotemporal dementia and grn-related frontotemporal dementia. An important gene associated with Frontotemporal Dementia, Ubiquitin-Positive is GRN (granulin).

Aliases & Classifications for Frontotemporal Dementia, Ubiquitin-Positive

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Frontotemporal Dementia, Ubiquitin-Positive, Aliases & Descriptions:

Name: Frontotemporal Dementia, Ubiquitin-Positive 42 22 62
Dementia, Hereditary Dysphasic Disinhibition 42
 
Hddd 42


Classifications:

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


Related Diseases for Frontotemporal Dementia, Ubiquitin-Positive

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Diseases related to Frontotemporal Dementia, Ubiquitin-Positive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia10.4
2grn-related frontotemporal dementia10.4

Symptoms for Frontotemporal Dementia, Ubiquitin-Positive

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Drugs & Therapeutics for Frontotemporal Dementia, Ubiquitin-Positive

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Drug clinical trials:

Search ClinicalTrials for Frontotemporal Dementia, Ubiquitin-Positive

Search NIH Clinical Center for Frontotemporal Dementia, Ubiquitin-Positive

Genetic Tests for Frontotemporal Dementia, Ubiquitin-Positive

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Genetic tests related to Frontotemporal Dementia, Ubiquitin-Positive:

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

Anatomical Context for Frontotemporal Dementia, Ubiquitin-Positive

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Animal Models for Frontotemporal Dementia, Ubiquitin-Positive or affiliated genes

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Publications for Frontotemporal Dementia, Ubiquitin-Positive

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Variations for Frontotemporal Dementia, Ubiquitin-Positive

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Clinvar genetic disease variations for Frontotemporal Dementia, Ubiquitin-Positive:

6
id Gene Name Type Significance SNP ID Assembly Location
1GRNNM_002087.2(GRN): c.373C> T (p.Gln125Ter)single nucleotide variantPathogenicrs63750077GRCh37Chr 17, 42427619: 42427619
2GRNNM_002087.2(GRN): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs63751006GRCh37Chr 17, 42426534: 42426534
3GRNNM_002087.2(GRN): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs63750331GRCh37Chr 17, 42426535: 42426535
4GRNNM_002087.2(GRN): c.26C> A (p.Ala9Asp)single nucleotide variantPathogenicrs63751243GRCh37Chr 17, 42426558: 42426558
5GRNNM_002087.2(GRN): c.1477C> T (p.Arg493Ter)single nucleotide variantPathogenicrs63751294GRCh37Chr 17, 42429772: 42429772
6GRNNM_002087.2(GRN): c.813_816delCACT (p.Thr272Serfs)deletionPathogenicrs63749877GRCh37Chr 17, 42428509: 42428512

Expression for genes affiliated with Frontotemporal Dementia, Ubiquitin-Positive

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Expression patterns in normal tissues for genes affiliated with Frontotemporal Dementia, Ubiquitin-Positive

Search GEO for disease gene expression data for Frontotemporal Dementia, Ubiquitin-Positive.

Pathways for genes affiliated with Frontotemporal Dementia, Ubiquitin-Positive

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Compounds for genes affiliated with Frontotemporal Dementia, Ubiquitin-Positive

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GO Terms for genes affiliated with Frontotemporal Dementia, Ubiquitin-Positive

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Products for genes affiliated with Frontotemporal Dementia, Ubiquitin-Positive

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  • Antibodies
  • Proteins
  • Lysates

Sources for Frontotemporal Dementia, 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet