MCID: DMN016
MIFTS: 20

Dementia, Familial, Nonspecific malady

Genetic diseases (common), Mental diseases categories

Aliases & Classifications for Dementia, Familial, Nonspecific

About this section

Dementia, Familial, Nonspecific, Aliases & Descriptions:

Name: Dementia, Familial, Nonspecific 45 10
Frontotemporal Dementia, Chromosome 3-Linked 45 19 20 60
 
Chromosome 3-Linked Frontotemporal Dementia 22
Ftd-3 19


Classifications:

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


External Ids:

OMIM45 600795

Summaries for Dementia, Familial, Nonspecific

About this section


OMIM:45 A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow... (600795) more...

MalaCards based summary: Dementia, Familial, Nonspecific, also known as frontotemporal dementia, chromosome 3-linked, is related to dementia and chmp2b-related frontotemporal dementia, and has symptoms including autosomal dominant inheritance, urinary incontinence and hyperorality. An important gene associated with Dementia, Familial, Nonspecific is CHMP2B (charged multivesicular body protein 2B).

GeneReviews summary for ftd-chmp2b

Related Diseases for Dementia, Familial, Nonspecific

About this section

Diseases related to Dementia, Familial, Nonspecific via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dementia10.5
2chmp2b-related frontotemporal dementia10.5
3cerebritis10.1

Graphical network of diseases related to Dementia, Familial, Nonspecific:



Diseases related to dementia, familial, nonspecific

Symptoms for Dementia, Familial, Nonspecific

About this section

Symptoms by clinical synopsis from OMIM:

600795

Clinical features from OMIM:

600795

HPO human phenotypes related to Dementia, Familial, Nonspecific:

(show all 26)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 urinary incontinence HP:0000020
3 hyperorality HP:0000710
4 restlessness HP:0000711
5 aggressive behavior HP:0000718
6 stereotypic behavior HP:0000733
7 disinhibition HP:0000734
8 apathy HP:0000741
9 frontal release signs HP:0000743
10 personality changes HP:0000751
11 lack of insight HP:0000757
12 gait disturbance HP:0001288
13 dystonia HP:0001332
14 myoclonus HP:0001336
15 hyperreflexia HP:0001347
16 rigidity HP:0002063
17 cerebral cortical atrophy HP:0002120
18 frontotemporal dementia HP:0002145
19 mutism HP:0002300
20 orofacial dyskinesia HP:0002310
21 memory impairment HP:0002354
22 loss of speech HP:0002371
23 dyscalculia HP:0002442
24 astrocytosis HP:0002446
25 neuronal loss in central nervous system HP:0002529
26 babinski sign HP:0003487

Drugs & Therapeutics for Dementia, Familial, Nonspecific

About this section

Drug clinical trials:

Search ClinicalTrials for Dementia, Familial, Nonspecific

Search NIH Clinical Center for Dementia, Familial, Nonspecific

Genetic Tests for Dementia, Familial, Nonspecific

About this section

Genetic tests related to Dementia, Familial, Nonspecific:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia, Chromosome 3-Linked20 22 CHMP2B

Anatomical Context for Dementia, Familial, Nonspecific

About this section

Animal Models for Dementia, Familial, Nonspecific or affiliated genes

About this section

Publications for Dementia, Familial, Nonspecific

About this section

Variations for Dementia, Familial, Nonspecific

About this section

UniProtKB/Swiss-Prot genetic disease variations for Dementia, Familial, Nonspecific:

62
id Symbol AA change Variation ID SNP ID
1CHMP2Bp.Asp148TyrVAR_023383

Clinvar genetic disease variations for Dementia, Familial, Nonspecific:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CHMP2BCHMP2B, IVS5AS, G-Csingle nucleotide variantPathogenic
2CHMP2BNM_014043.3(CHMP2B): c.442G> T (p.Asp148Tyr)single nucleotide variantPathogenicrs63750653GRCh37Chr 3, 87302571: 87302571
3CHMP2BNM_014043.3(CHMP2B): c.618A> C (p.Gln206His)single nucleotide variantPathogenicrs63751126GRCh37Chr 3, 87302948: 87302948
4CHMP2BNM_014043.3(CHMP2B): c.493C> T (p.Gln165Ter)single nucleotide variantPathogenicrs63750355GRCh37Chr 3, 87302622: 87302622
5CHMP2BNM_014043.3(CHMP2B): c.532-1G> Asingle nucleotide variantPathogenicrs63750652GRCh37Chr 3, 87302861: 87302861
6CHMP2BNM_014043.3(CHMP2B): c.556C> T (p.Arg186Ter)single nucleotide variantPathogenicrs63751048GRCh37Chr 3, 87302886: 87302886
7CHMP2BNM_014043.3(CHMP2B): c.85A> G (p.Ile29Val)single nucleotide variantPathogenicrs63750818GRCh37Chr 3, 87289899: 87289899
8CHMP2BNM_014043.3(CHMP2B): c.311C> A (p.Thr104Asn)single nucleotide variantPathogenicrs281864934GRCh37Chr 3, 87295048: 87295048

Expression for genes affiliated with Dementia, Familial, Nonspecific

About this section
Search GEO for disease gene expression data for Dementia, Familial, Nonspecific.

Pathways for genes affiliated with Dementia, Familial, Nonspecific

About this section

Compounds for genes affiliated with Dementia, Familial, Nonspecific

About this section

GO Terms for genes affiliated with Dementia, Familial, Nonspecific

About this section

Products for genes affiliated with Dementia, Familial, Nonspecific

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dementia, Familial, Nonspecific

About this section
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