MCID: FRN013
MIFTS: 32

Frontotemporal Dementia, Chromosome 3-Linked

Categories: Genetic diseases, Mental diseases

Aliases & Classifications for Frontotemporal Dementia, Chromosome 3-Linked

MalaCards integrated aliases for Frontotemporal Dementia, Chromosome 3-Linked:

Name: Frontotemporal Dementia, Chromosome 3-Linked 57 24 75 29 6 73
Dementia, Familial, Nonspecific 57 13
Ftd3 57 75
Dementia, Familial Nonspecific 57
Dmt1; Dem 57
Ftd-3 24
Dmt1 57
Dem 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
average age of onset 57 years
average duration of illness 8 years
subtle personality and behavioral changes are presenting signs
motor symptoms develop later (about 5 years into illness)


HPO:

32
frontotemporal dementia, chromosome 3-linked:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance appears to be nearly complete in the danish family...

Classifications:



Summaries for Frontotemporal Dementia, Chromosome 3-Linked

OMIM : 57 A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see 104300) or other forms of dementia. In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance. See also frontotemporal lobe dementia (FLDEM; 600274), which maps to chromosome 17 and is caused by mutation in the microtubule-associated protein tau gene (MAPT; 157140). (600795)

MalaCards based summary : Frontotemporal Dementia, Chromosome 3-Linked, also known as dementia, familial, nonspecific, is related to chmp2b-related frontotemporal dementia and hemosiderosis, and has symptoms including muscle rigidity, myoclonus and abnormal pyramidal signs. An important gene associated with Frontotemporal Dementia, Chromosome 3-Linked is CHMP2B (Charged Multivesicular Body Protein 2B). The drugs Natalizumab and Iron have been mentioned in the context of this disorder. Affiliated tissues include brain and parietal lobe, and related phenotypes are urinary incontinence and hyperorality

UniProtKB/Swiss-Prot : 75 Frontotemporal dementia, chromosome 3-linked: Characterized by an onset of dementia in the late 50's initially characterized by behavioral and personality changes including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits.

GeneReviews: NBK1199

Related Diseases for Frontotemporal Dementia, Chromosome 3-Linked

Graphical network of the top 20 diseases related to Frontotemporal Dementia, Chromosome 3-Linked:



Diseases related to Frontotemporal Dementia, Chromosome 3-Linked

Symptoms & Phenotypes for Frontotemporal Dementia, Chromosome 3-Linked

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
myoclonus
dystonia
rigidity
astrocytosis
more
Neurologic Behavioral Psychiatric Manifestations:
restlessness
disinhibition
apathy
personality changes
inappropriate behavior
more
Genitourinary Bladder:
urinary incontinence


Clinical features from OMIM:

600795

Human phenotypes related to Frontotemporal Dementia, Chromosome 3-Linked:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 urinary incontinence 32 HP:0000020
2 hyperorality 32 HP:0000710
3 restlessness 32 HP:0000711
4 aggressive behavior 32 HP:0000718
5 stereotypy 32 HP:0000733
6 disinhibition 32 HP:0000734
7 apathy 32 HP:0000741
8 frontal release signs 32 HP:0000743
9 personality changes 32 HP:0000751
10 lack of insight 32 HP:0000757
11 gait disturbance 32 HP:0001288
12 dystonia 32 HP:0001332
13 myoclonus 32 HP:0001336
14 hyperreflexia 32 HP:0001347
15 rigidity 32 HP:0002063
16 cerebral cortical atrophy 32 HP:0002120
17 frontotemporal dementia 32 HP:0002145
18 mutism 32 HP:0002300
19 orofacial dyskinesia 32 HP:0002310
20 memory impairment 32 HP:0002354
21 loss of speech 32 HP:0002371
22 dyscalculia 32 HP:0002442
23 astrocytosis 32 HP:0002446
24 neuronal loss in central nervous system 32 HP:0002529
25 babinski sign 32 HP:0003487

UMLS symptoms related to Frontotemporal Dementia, Chromosome 3-Linked:


muscle rigidity, myoclonus, abnormal pyramidal signs, personality changes, memory loss, restlessness

Drugs & Therapeutics for Frontotemporal Dementia, Chromosome 3-Linked

Drugs for Frontotemporal Dementia, Chromosome 3-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Natalizumab Approved, Investigational Phase 4 189261-10-7
2
Iron Approved Phase 3,Not Applicable 7439-89-6 23925
3 Orange Approved, Nutraceutical Phase 3
4 Micronutrients Phase 3
5 Trace Elements Phase 3
6 Gotu Kola Nutraceutical Phase 3
7 Hibiscus Nutraceutical Phase 3
8 Iron Supplement Nutraceutical Phase 3
9 insulin Phase 2
10 Insulin, Globin Zinc Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natalizumab Temporary Discontinuation Study Completed NCT02775110 Phase 4
2 Hibiscus Sabdariffa and Centella Asiatica in the Treatment of Anemia by Iron Deficiency Completed NCT01414374 Phase 3 Herbal medicine;Iron
3 MSC Administration for the Management of Type 1 Diabetic Patients Active, not recruiting NCT02893306 Phase 2
4 Study of Sleeve Gastrectomy on Iron Intestinal Absorption in Morbidly Obese Patients Completed NCT01483768 Not Applicable
5 Tolerability, Safety and Efficacy of the HAC-Coil Deep Transcranial Magnetic Stimulation in Medication Resistance Obsessive Compulsive Disorder (OCD) Subjects Recruiting NCT01343732 Not Applicable
6 Influence of Iron and Foliate Transporters on Bioavailability of These Micronutrients in the Organism Not yet recruiting NCT03438942 Not Applicable
7 Type 1 Diabetes and Eating Disorder Diurnal Glucose Patterns Terminated NCT01390636

Search NIH Clinical Center for Frontotemporal Dementia, Chromosome 3-Linked

Genetic Tests for Frontotemporal Dementia, Chromosome 3-Linked

Genetic tests related to Frontotemporal Dementia, Chromosome 3-Linked:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia, Chromosome 3-Linked 29 CHMP2B

Anatomical Context for Frontotemporal Dementia, Chromosome 3-Linked

MalaCards organs/tissues related to Frontotemporal Dementia, Chromosome 3-Linked:

41
Brain, Parietal Lobe

Publications for Frontotemporal Dementia, Chromosome 3-Linked

Articles related to Frontotemporal Dementia, Chromosome 3-Linked:

# Title Authors Year
1
Frontotemporal Dementia, Chromosome 3-Linked ( 20301378 )
1993

Variations for Frontotemporal Dementia, Chromosome 3-Linked

UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Dementia, Chromosome 3-Linked:

75
# Symbol AA change Variation ID SNP ID
1 CHMP2B p.Asp148Tyr VAR_023383 rs63750653

ClinVar genetic disease variations for Frontotemporal Dementia, Chromosome 3-Linked:

6
(show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHMP2B CHMP2B, IVS5AS, G-C single nucleotide variant Pathogenic
2 CHMP2B NM_014043.3(CHMP2B): c.442G> T (p.Asp148Tyr) single nucleotide variant Pathogenic rs63750653 GRCh37 Chromosome 3, 87302571: 87302571
3 CHMP2B NM_014043.3(CHMP2B): c.442G> T (p.Asp148Tyr) single nucleotide variant Pathogenic rs63750653 GRCh38 Chromosome 3, 87253421: 87253421
4 CHMP2B NM_014043.3(CHMP2B): c.618A> C (p.Gln206His) single nucleotide variant Pathogenic rs63751126 GRCh37 Chromosome 3, 87302948: 87302948
5 CHMP2B NM_014043.3(CHMP2B): c.618A> C (p.Gln206His) single nucleotide variant Pathogenic rs63751126 GRCh38 Chromosome 3, 87253798: 87253798
6 CHMP2B NM_014043.3(CHMP2B): c.493C> T (p.Gln165Ter) single nucleotide variant Pathogenic rs63750355 GRCh37 Chromosome 3, 87302622: 87302622
7 CHMP2B NM_014043.3(CHMP2B): c.493C> T (p.Gln165Ter) single nucleotide variant Pathogenic rs63750355 GRCh38 Chromosome 3, 87253472: 87253472
8 CHMP2B NM_014043.3(CHMP2B): c.532-1G> A single nucleotide variant Pathogenic rs63750652 GRCh37 Chromosome 3, 87302861: 87302861
9 CHMP2B NM_014043.3(CHMP2B): c.532-1G> A single nucleotide variant Pathogenic rs63750652 GRCh38 Chromosome 3, 87253711: 87253711
10 CHMP2B NM_014043.3(CHMP2B): c.556C> T (p.Arg186Ter) single nucleotide variant Pathogenic rs63751048 GRCh37 Chromosome 3, 87302886: 87302886
11 CHMP2B NM_014043.3(CHMP2B): c.556C> T (p.Arg186Ter) single nucleotide variant Pathogenic rs63751048 GRCh38 Chromosome 3, 87253736: 87253736
12 CHMP2B NM_014043.3(CHMP2B): c.560G> A (p.Ser187Asn) single nucleotide variant Benign/Likely benign rs78268395 GRCh38 Chromosome 3, 87253740: 87253740
13 CHMP2B NM_014043.3(CHMP2B): c.560G> A (p.Ser187Asn) single nucleotide variant Benign/Likely benign rs78268395 GRCh37 Chromosome 3, 87302890: 87302890
14 CHMP2B NM_014043.3(CHMP2B): c.34+8C> T single nucleotide variant Benign/Likely benign rs35413339 GRCh38 Chromosome 3, 87227564: 87227564
15 CHMP2B NM_014043.3(CHMP2B): c.34+8C> T single nucleotide variant Benign/Likely benign rs35413339 GRCh37 Chromosome 3, 87276714: 87276714

Expression for Frontotemporal Dementia, Chromosome 3-Linked

Search GEO for disease gene expression data for Frontotemporal Dementia, Chromosome 3-Linked.

Pathways for Frontotemporal Dementia, Chromosome 3-Linked

GO Terms for Frontotemporal Dementia, Chromosome 3-Linked

Sources for Frontotemporal Dementia, Chromosome 3-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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