FTD3
MCID: FRN013
MIFTS: 30

Frontotemporal Dementia, Chromosome 3-Linked (FTD3)

Categories: Genetic diseases, Mental diseases, Neuronal 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 abnormal pyramidal signs, myoclonus and restlessness. An important gene associated with Frontotemporal Dementia, Chromosome 3-Linked is CHMP2B (Charged Multivesicular Body Protein 2B). The drugs Natalizumab and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include brain, parietal lobe and kidney, and related phenotypes are gait disturbance and hyperreflexia

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 26)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 32 HP:0001288
2 hyperreflexia 32 HP:0001347
3 stereotypy 32 HP:0000733
4 myoclonus 32 HP:0001336
5 babinski sign 32 HP:0003487
6 dystonia 32 HP:0001332
7 cerebral cortical atrophy 32 HP:0002120
8 memory impairment 32 HP:0002354
9 rigidity 32 HP:0002063
10 aggressive behavior 32 HP:0000718
11 astrocytosis 32 HP:0002446
12 urinary incontinence 32 HP:0000020
13 restlessness 32 HP:0000711
14 disinhibition 32 HP:0000734
15 apathy 32 HP:0000741
16 personality changes 32 HP:0000751
17 frontotemporal dementia 32 HP:0002145
18 neuronal loss in central nervous system 32 HP:0002529
19 inappropriate behavior 32 HP:0000719
20 loss of speech 32 HP:0002371
21 dyscalculia 32 HP:0002442
22 orofacial dyskinesia 32 HP:0002310
23 mutism 32 HP:0002300
24 hyperorality 32 HP:0000710
25 lack of insight 32 HP:0000757
26 frontal release signs 32 HP:0000743

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


abnormal pyramidal signs, myoclonus, restlessness, personality changes, memory loss, 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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Natalizumab Approved, Investigational Phase 4 189261-10-7
2 Immunologic Factors Phase 4
3
Iron Approved Phase 3,Not Applicable 7439-89-6 23925
4 Orange Approved Phase 3
5 Micronutrients Phase 3,Not Applicable
6 Gotu Kola Phase 3
7 Iron Supplement Phase 3
8 Trace Elements Phase 3,Not Applicable
9 Hibiscus Phase 3
10 Insulin, Globin Zinc Phase 2
11 insulin Phase 2
12
leucovorin Approved Not Applicable 58-05-9 6006 143
13
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
14 Vitamin B Complex Not Applicable
15 Vitamins Not Applicable
16 Vitamin B9 Not Applicable
17 Hematinics Not Applicable
18 Folate Not Applicable

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 Unknown status 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 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, Kidney

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 21)
# 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.85A> G (p.Ile29Val) single nucleotide variant Uncertain significance rs63750818 GRCh37 Chromosome 3, 87289899: 87289899
13 CHMP2B NM_014043.3(CHMP2B): c.85A> G (p.Ile29Val) single nucleotide variant Uncertain significance rs63750818 GRCh38 Chromosome 3, 87240749: 87240749
14 CHMP2B NM_014043.3(CHMP2B): c.311C> A (p.Thr104Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs281864934 GRCh37 Chromosome 3, 87295048: 87295048
15 CHMP2B NM_014043.3(CHMP2B): c.311C> A (p.Thr104Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs281864934 GRCh38 Chromosome 3, 87245898: 87245898
16 CHMP2B NM_014043.3(CHMP2B): c.560G> A (p.Ser187Asn) single nucleotide variant Benign/Likely benign rs78268395 GRCh38 Chromosome 3, 87253740: 87253740
17 CHMP2B NM_014043.3(CHMP2B): c.560G> A (p.Ser187Asn) single nucleotide variant Benign/Likely benign rs78268395 GRCh37 Chromosome 3, 87302890: 87302890
18 CHMP2B NM_014043.3(CHMP2B): c.34+8C> T single nucleotide variant Benign/Likely benign rs35413339 GRCh38 Chromosome 3, 87227564: 87227564
19 CHMP2B NM_014043.3(CHMP2B): c.34+8C> T single nucleotide variant Benign/Likely benign rs35413339 GRCh37 Chromosome 3, 87276714: 87276714
20 CHMP2B NM_014043.3(CHMP2B): c.581C> T (p.Ser194Leu) single nucleotide variant Uncertain significance rs149380040 GRCh38 Chromosome 3, 87253761: 87253761
21 CHMP2B NM_014043.3(CHMP2B): c.581C> T (p.Ser194Leu) single nucleotide variant Uncertain significance rs149380040 GRCh37 Chromosome 3, 87302911: 87302911

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
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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