Frontotemporal Dementia, Chromosome 3-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 600795

MedGen ⁴² C1833296

UMLS ⁷³ C1833296

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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

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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 28)

#	Related Disease	Score
1	chmp2b-related frontotemporal dementia	11.8
2	hemosiderosis	10.2
3	frontotemporal dementia	10.2
4	dementia	10.2
5	frontotemporal dementia with parkinsonism-17	10.2
6	microcytic anemia	10.1
7	deficiency anemia	9.9
8	hepatitis	9.9
9	duodenitis	9.9
10	hypochromic microcytic anemia with iron overload	9.9
11	alzheimer disease	9.7
12	hepatocellular carcinoma	9.7
13	anemia, hypochromic microcytic, with iron overload 1	9.7
14	celiac disease 1	9.7
15	hemochromatosis, type 1	9.7
16	aging	9.7
17	macular degeneration, age-related, 1	9.7
18	brain ischemia	9.7
19	chronic kidney failure	9.7
20	restless legs syndrome	9.7
21	hypochromic microcytic anemia	9.7
22	iron deficiency anemia	9.7
23	iron metabolism disease	9.7
24	ischemia	9.7
25	embryonal carcinoma	9.7
26	kidney disease	9.7
27	neuronitis	9.7
28	endotheliitis	9.7

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

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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 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

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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

Synonyms:

02583_FLUKA

12310_ALDRICH

12310_RIEDEL

129048-51-7

14067-02-8

161135-39-3

190454-13-8

195161-83-2

199281-22-6

209309_ALDRICH

209309_SIAL

255637_ALDRICH

266213_ALDRICH

266256_ALDRICH

267945_ALDRICH

267953_ALDRICH

26Fe

338141_ALDRICH

356808_ALDRICH

356824_ALDRICH

356832_ALDRICH

39344-71-3

3ZhP

413054_ALDRICH

443783-52-6

44890_ALDRICH

44890_FLUKA

675141-17-0

70884-35-4

73135-38-3

7439-89-6

8011-79-8

8053-60-9

AC1L2N38

Ancor B

Ancor en 80/150

armco Iron

Armco iron

Atomel 28

Atomel 300M200

Atomel 500M

Atomel 95

Atomiron 44MR

Atomiron 5M

Atomiron AFP 25

Atomiron AFP 5

ATW 230

ATW 432

C00023

C3518_SIAL

C3518_SIGMA

Carbonyl iron

CCRIS 1580

CHEBI:18248

CID23925

Copy Powder CS 105-175

D007501

DB01592

Diseases (animal), iron overload

Diseases, iron overload

DSP 1000

DSP 128B

DSP 135

DSP 135C

DSP 138

Ed-In-Sol

EF 1000

EF 250

EFV 200/300

EFV 250

EFV 250/400

EINECS 231-096-4

Eisen

Electrolytic iron

F 60 (metal)

Fe

FE

FE (II) ion

Fe(2+)

Fe(II)

Fe1+

Fe-40

fer

Feronate

Ferretts

Ferro-Caps

Ferro-Time

Ferrous ion

ferrous iron

Ferrousal

Ferrovac e

Ferrovac E

Ferrum

Ferrum metallicum

FT 3 (element)

GS 6

Hematite

Hemocyte

HF 2 (element)

hierro

Hierro

HL (iron)

Hoeganaes ATW 230

Hoeganaes EH

HQ (metal)

HS (iron)

HS 4849

HSDB 604

Infed

IRMM524A_FLUKA

IRMM524B_FLUKA

IRON

Iron (Fe)

Iron (Fe1+)

Iron ion (Fe+)

Iron ion(1+)

Iron ion(2+)

Iron monocation

Iron powder

Iron standard for AAS

Iron(1+)

Iron(1+) ion

Iron(III) nitrate solution

Iron, carbonyl

Iron, electrolytic

Iron, elemental

Iron, ion (Fe1+)

Iron, ion (Fe1+) (8CI,9CI)

Iron, reduced

Limonite

LOHA

LS-3196

Magnetite

Malleable iron

Metopirone

Metyrapone

MolPort-003-925-001

NC 100

PZh1M1

PZh-1M3

PZh-2

PZh2M

PZH2m

PZh2M1

PZh2M2

PZh3

PZh3M

PZh4M

PZhO

PZHO

Reduced iron

Remko

Siderol

Suy-b 2

SUY-B 2

Taconite

UNII-E1UOL152H7

Venofer

Vitedyn-Slo

Wrought iron

Yieronia

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

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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

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Anatomical Context for Frontotemporal Dementia, Chromosome 3-Linked

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

⁴¹

Brain, Parietal Lobe

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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 )	Pagon R.A....Stephens K.	1993

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Genes for Frontotemporal Dementia, Chromosome 3-Linked

Genes related to Frontotemporal Dementia, Chromosome 3-Linked (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHMP2B	Charged Multivesicular Body Protein 2B	Protein Coding	1329.19	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	16041373 16431024 20301378 (more) 20301623 17956895 16807408 20352044

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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

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Expression for Frontotemporal Dementia, Chromosome 3-Linked

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

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Pathways for Frontotemporal Dementia, Chromosome 3-Linked

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GO Terms for Frontotemporal Dementia, Chromosome 3-Linked

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Sources for Frontotemporal Dementia, Chromosome 3-Linked

¹ BioSystems

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³³ ICD10

³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia