MCID: GRN014
MIFTS: 39

Grn-Related Frontotemporal Dementia

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Grn-Related Frontotemporal Dementia

MalaCards integrated aliases for Grn-Related Frontotemporal Dementia:

Name: Grn-Related Frontotemporal Dementia 25 26 74
Hereditary Dysphasic Disinhibition Dementia 25 26
Frontotemporal Lobar Degeneration 26 74
Ftdu-17 25 26
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 74
Ftld with Tdp-43 Pathology 26
Frontotemporal Dementia 74
Ftdp-17 Grn 26
Ftd-Pgrn 26
Ftld-Tdp 26
Ftd-Grn 26
Hddd1 26
Hddd2 26
Ftld 26

Characteristics:

GeneReviews:

25
Penetrance Penetrance is about 90% by age 75 years, but apparent incomplete penetrance has also been observed in a few cases [cruts et al 2006a, gass et al 2006]. more reports will be needed before the penetrance can be more accurately established...

Classifications:



External Ids:

Summaries for Grn-Related Frontotemporal Dementia

Genetics Home Reference : 26 GRN-related frontotemporal dementia is a progressive brain disorder that can affect behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people typically survive 6 to 7 years after the appearance of symptoms. However, the features of this condition vary significantly, even among affected members of the same family.

MalaCards based summary : Grn-Related Frontotemporal Dementia, also known as hereditary dysphasic disinhibition dementia, is related to amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and semantic dementia, and has symptoms including agitation, restlessness and personality changes. The drugs Dopamine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes.

GeneReviews: NBK1371

Related Diseases for Grn-Related Frontotemporal Dementia

Diseases in the Frontotemporal Dementia family:

Grn-Related Frontotemporal Dementia Chmp2b-Related Frontotemporal Dementia

Diseases related to Grn-Related Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 11.9
2 semantic dementia 11.7
3 pick disease of brain 11.7
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.6
5 frontotemporal dementia 11.6
6 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.6
7 progressive non-fluent aphasia 11.4
8 alzheimer disease 11.1
9 lateral sclerosis 11.0
10 amyotrophic lateral sclerosis 1 11.0
11 dementia 10.8
12 intermittent claudication 10.8
13 motor neuron disease 10.7
14 sarcoma 10.5
15 supranuclear palsy, progressive, 1 10.4
16 corticobasal degeneration 10.4
17 multiple system atrophy 1 10.3
18 neuronal ceroid lipofuscinosis 10.3
19 polyglucosan body neuropathy, adult form 10.2
20 cognitive function 1, social 10.2
21 aging 10.2
22 frontotemporal dementia, chromosome 3-linked 10.2
23 aphasia 10.2
24 apraxia 10.2
25 adult polyglucosan body disease 10.2
26 charles bonnet syndrome 10.1
27 autoimmune disease 10.1
28 blood group, colton system 10.1
29 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1
30 inclusion body myositis 10.1
31 myositis 10.1
32 obsessive-compulsive disorder 10.1
33 parkinson disease, late-onset 10.1
34 schizophrenia 10.1
35 schizophrenia 1 10.1
36 anxiety 10.1
37 amyotrophic lateral sclerosis 17 10.1
38 ceroid lipofuscinosis, neuronal, 11 10.1
39 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.1
40 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.1
41 bipolar disorder 10.1
42 patulous eustachian tube 10.1
43 choreatic disease 10.1
44 spindle cell sarcoma 10.1
45 prosopagnosia 10.1
46 paget's disease of bone 10.1
47 bullous pemphigoid 10.1
48 vascular dementia 10.1
49 amyloidosis 10.1
50 depression 10.1

Comorbidity relations with Grn-Related Frontotemporal Dementia via Phenotypic Disease Network (PDN):


Acute Cystitis Alzheimer Disease

Graphical network of the top 20 diseases related to Grn-Related Frontotemporal Dementia:



Diseases related to Grn-Related Frontotemporal Dementia

Symptoms & Phenotypes for Grn-Related Frontotemporal Dementia

UMLS symptoms related to Grn-Related Frontotemporal Dementia:


agitation, restlessness, personality changes, memory loss

Drugs & Therapeutics for Grn-Related Frontotemporal Dementia

Drugs for Grn-Related Frontotemporal Dementia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 147)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 62-31-7, 51-61-6 681
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2 19982-08-2 4054
4
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 644073 40400
5
Acetaminophen Approved Phase 4 103-90-2 1983
6
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1 72599-27-0 51634
7
Iodine Approved, Investigational Phase 4 7553-56-2 807
8
Corticosterone Experimental Phase 4,Phase 1,Early Phase 1 50-22-6 5753
9
1-Deoxynojirimycin Investigational Phase 4,Phase 3,Phase 2 19130-96-2 1374
10 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
11 Dopamine Agents Phase 4,Phase 3,Phase 2
12 Antiparkinson Agents Phase 4,Phase 3,Phase 2
13 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
14 Fluorodeoxyglucose F18 Phase 4,Phase 2,Phase 1,Not Applicable
15 Antidepressive Agents Phase 4,Phase 2,Phase 1
16 Neurotransmitter Uptake Inhibitors Phase 4
17 Serotonin Uptake Inhibitors Phase 4
18 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
19 Serotonin Agents Phase 4,Phase 3
20 Antidepressive Agents, Second-Generation Phase 4
21 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
22 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
23 Analgesics Phase 4,Phase 1
24 Analgesics, Non-Narcotic Phase 4,Phase 1
25 Antipyretics Phase 4
26 Analgesics, Opioid Phase 4
27 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
28 Narcotic Antagonists Phase 4
29 Narcotics Phase 4
30 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1
31 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
32 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
33 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
37 Anti-Inflammatory Agents Phase 4,Phase 1
38 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
39 Calamus Phase 4
40 cadexomer iodine Phase 4
41
Serotonin Investigational, Nutraceutical Phase 4,Phase 3 50-67-9 5202
42
tannic acid Approved Phase 3 1401-55-4
43
Methylene blue Approved, Investigational Phase 3 61-73-4
44
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
45
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
46
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
47
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
48
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
49
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
50
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 198)
# Name Status NCT ID Phase Drugs
1 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
2 Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
3 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4 Memantine
4 Efficacy of Pain Treatment on Depression in Patients With Dementia Completed NCT02267057 Phase 4 Paracetamol;Buprenorphine;Paracetamol placebo;Buprenorphine placebo
5 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
6 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
7 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
8 Safety and Efficacy of Miglustat in Chinese NPC Patients Not yet recruiting NCT03910621 Phase 4 Miglustat
9 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
10 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
11 Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
12 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
13 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
14 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
15 Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) Recruiting NCT03822013 Phase 3 Miglustat
16 The Healthy Patterns Study Recruiting NCT03682185 Phase 3
17 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
18 Relapse Prevention Study of Pimavanserin in Dementia-related Psychosis Recruiting NCT03325556 Phase 3 Placebo;Pimavanserin 34 mg;Pimavanserin 20 mg
19 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
20 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
21 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
22 Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
23 Open-Label Study of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 TRx0237
24 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
25 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
26 Effects of Tolcapone on Frontotemporal Dementia Unknown status NCT00604591 Phase 2 Tolcapone;Placebo
27 Study to Assess the Safety, Tolerability, and Pharmacodynamic (PD) Effects of FRM-0334 in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2 FRM-0334;Placebo
28 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
29 A Pilot Study to Explore the Safety and Tolerability of Galantamine HBr in the Treatment of Pick Complex/Frontotemporal Dementia Completed NCT00416169 Phase 2 galantamine hydrobromide
30 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
31 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
32 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
33 Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
34 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
35 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
36 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
37 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
38 Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
39 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
40 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
41 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
42 Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
43 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
44 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
45 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Active, not recruiting NCT02414230 Phase 2 Drug: F 18 T807
46 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
47 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
48 F 18 T807 Tau PET Imaging of Progressive Posterior Cortical Dysfunction (IND 123119, Protocol E) Enrolling by invitation NCT02414282 Phase 2 F 18 T807
49 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
50 N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) Not yet recruiting NCT03759639 Phase 2 IB1001

Search NIH Clinical Center for Grn-Related Frontotemporal Dementia

Genetic Tests for Grn-Related Frontotemporal Dementia

Anatomical Context for Grn-Related Frontotemporal Dementia

MalaCards organs/tissues related to Grn-Related Frontotemporal Dementia:

42
Brain, Liver, Testes, Cortex, Bone, Prefrontal Cortex, Eye

Publications for Grn-Related Frontotemporal Dementia

Articles related to Grn-Related Frontotemporal Dementia:

# Title Authors Year
1
Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. ( 9633693 )
1998

Variations for Grn-Related Frontotemporal Dementia

Expression for Grn-Related Frontotemporal Dementia

LifeMap Discovery
Genes differentially expressed in tissues of Grn-Related Frontotemporal Dementia patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 NEFL neurofilament, light polypeptide NULL - 3.74 0.002
2 VSNL1 visinin-like 1 NULL - 3.71 0.005
3 PCDH8 protocadherin 8 NULL - 3.66 0.000
4 PCSK1 proprotein convertase subtilisin/kexin type 1 NULL - 3.65 0.002
5 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide NULL - 3.24 0.002
6 RGS4 regulator of G-protein signaling 4 NULL - 3.21 0.001
7 SYT1 synaptotagmin I NULL - 3.20 0.005
8 STMN2 stathmin 2 NULL - 3.07 0.001
Search GEO for disease gene expression data for Grn-Related Frontotemporal Dementia.

Pathways for Grn-Related Frontotemporal Dementia

GO Terms for Grn-Related Frontotemporal Dementia

Sources for Grn-Related Frontotemporal Dementia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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