MCID: FRN013
MIFTS: 33

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 53 23 71 28 69
Dementia, Familial, Nonspecific 53 13
Ftd3 53 71
Dementia, Familial Nonspecific 53
Dmt1; Dem 53
Ftd-3 23
Dmt1 53
Dem 53

Characteristics:

OMIM:

53
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:

31
frontotemporal dementia, chromosome 3-linked:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance appears to be nearly complete in the danish family...

Classifications:



Summaries for Frontotemporal Dementia, Chromosome 3-Linked

OMIM : 53 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 myoclonus, dystonia and personality changes. 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.

UniProtKB/Swiss-Prot : 71 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

Diseases related to Frontotemporal Dementia, Chromosome 3-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 chmp2b-related frontotemporal dementia 11.8
2 hemosiderosis 10.2
3 frontotemporal dementia 10.2
4 dementia 10.2
5 microcytic anemia 10.1
6 arteriosclerosis 9.9
7 cerebritis 9.9
8 porokeratosis 9.9
9 cerebral arteriosclerosis 9.9
10 deficiency anemia 9.9
11 hepatitis 9.9
12 hypochromic microcytic anemia with iron overload 9.9
13 blood group, i system 9.7
14 hepatocellular carcinoma 9.7
15 anemia, hypochromic microcytic, with iron overload 1 9.7
16 celiac disease 1 9.7
17 hemochromatosis, type 1 9.7
18 aging 9.7
19 macular degeneration, age-related, 1 9.7
20 brain ischemia 9.7
21 chronic kidney failure 9.7
22 restless legs syndrome 9.7
23 hypochromic microcytic anemia 9.7
24 iron deficiency anemia 9.7
25 iron metabolism disease 9.7
26 ischemia 9.7
27 embryonal carcinoma 9.7
28 kidney disease 9.7
29 neuronitis 9.7
30 duodenitis 9.7
31 endotheliitis 9.7

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:

53
Neurologic Central Nervous System:
myoclonus
memory loss
dystonia
hyperreflexia
rigidity
more
Genitourinary Bladder:
urinary incontinence

Neurologic Behavioral Psychiatric Manifestations:
personality changes
restlessness
disinhibition
apathy
inappropriate behavior
more

Clinical features from OMIM:

600795

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

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 myoclonus 31 HP:0001336
2 dystonia 31 HP:0001332
3 personality changes 31 HP:0000751
4 restlessness 31 HP:0000711
5 gait disturbance 31 HP:0001288
6 hyperreflexia 31 HP:0001347
7 stereotypy 31 HP:0000733
8 babinski sign 31 HP:0003487
9 cerebral cortical atrophy 31 HP:0002120
10 memory impairment 31 HP:0002354
11 rigidity 31 HP:0002063
12 aggressive behavior 31 HP:0000718
13 astrocytosis 31 HP:0002446
14 disinhibition 31 HP:0000734
15 apathy 31 HP:0000741
16 neuronal loss in central nervous system 31 HP:0002529
17 urinary incontinence 31 HP:0000020
18 loss of speech 31 HP:0002371
19 dyscalculia 31 HP:0002442
20 orofacial dyskinesia 31 HP:0002310
21 mutism 31 HP:0002300
22 hyperorality 31 HP:0000710
23 lack of insight 31 HP:0000757
24 frontotemporal dementia 31 HP:0002145
25 frontal release signs 31 HP:0000743

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


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

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 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 Tolerability, Safety and Efficacy of the HAC-Coil Deep Transcranial Magnetic Stimulation in Medication Resistance Obsessive Compulsive Disorder (OCD) Subjects Recruiting NCT01343732
5 Influence of Iron and Foliate Transporters on Bioavailability of These Micronutrients in the Organism Not yet recruiting NCT03438942
6 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 28 CHMP2B

Anatomical Context for Frontotemporal Dementia, Chromosome 3-Linked

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

38
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 CHMP2B NM_014043.3(CHMP2B): c.532-1G> A single nucleotide variant Pathogenic rs63750652 GRCh37 Chromosome 3, 87302861: 87302861
2 CHMP2B NM_014043.3(CHMP2B): c.556C> T (p.Arg186Ter) single nucleotide variant Pathogenic rs63751048 GRCh37 Chromosome 3, 87302886: 87302886
3 CHMP2B CHMP2B, IVS5AS, G-C single nucleotide variant Pathogenic
4 CHMP2B NM_014043.3(CHMP2B): c.442G> T (p.Asp148Tyr) single nucleotide variant Pathogenic rs63750653 GRCh37 Chromosome 3, 87302571: 87302571
5 CHMP2B NM_014043.3(CHMP2B): c.618A> C (p.Gln206His) single nucleotide variant Pathogenic rs63751126 GRCh37 Chromosome 3, 87302948: 87302948
6 CHMP2B NM_014043.3(CHMP2B): c.493C> T (p.Gln165Ter) single nucleotide variant Pathogenic rs63750355 GRCh37 Chromosome 3, 87302622: 87302622

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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