UP-FTD
MCID: FRN031
MIFTS: 59

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions (UP-FTD) malady

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

Aliases & Classifications for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

Aliases & Descriptions for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

Name: Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions 54
Aphasia, Primary Progressive 54 50 13
Primary Progressive Aphasia 50 51 69
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 54 69
Ubiquitin-Positive Frontotemporal Dementia 66 29
Primary Progressive Aphasia Syndrome 50 29
Grn-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 12
Tau-Negative Frontotemporal Dementia Linked to Chromosome 17 66
Agramatic Variant of Primary Progressive Aphasia 56
Dementia, Hereditary Dysphasic Disinhibition 50
Frontotemporal Dementia, Ubiquitin-Positive 50
Progressive Non-Fluent Aphasia 56
Aphasia Primary Progressive 52
Agramatic Variant of Ppa 56
Frontotemporal Dementia 69
Non-Fluent Variant Ppa 56
Up-Ftd 66
Hddd 50
Ppa 50

Characteristics:

Orphanet epidemiological data:

56
progressive non-fluent aphasia
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

HPO:

32
frontotemporal lobar degeneration with ubiquitin-positive inclusions:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 607485
Disease Ontology 12 DOID:0060672
ICD10 33 G31.0
Orphanet 56 ORPHA100070
ICD10 via Orphanet 34 G31.0
MESH via Orphanet 43 D057178
UMLS via Orphanet 70 C0751706

Summaries for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

OMIM : 54 Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; 600274) which shows variable phenotypic expression,... (607485) more...

MalaCards based summary : Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions, also known as aphasia, primary progressive, is related to semantic dementia and logopenic progressive aphasia, and has symptoms including personality changes, dysphasia and memory impairment. An important gene associated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions is GRN (Granulin Precursor), and among its related pathways/superpathways are Neuroscience and Pink/Parkin Mediated Mitophagy. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related phenotypes are behavior/neurological and hematopoietic system

Disease Ontology : 12 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.

NIH Rare Diseases : 50 primary progressive aphasia (ppa) is a disorder characterized by language disturbance, including difficulty making or understanding speech (aphasia). in the early stages, ppa often causes difficulty with naming, word finding, or word comprehension. in later stages, affected people often become mute and lose their ability to communicate. ppa may sometimes be the initial manifestation of another neurodegenerative disease, such as frontotemporal dementia or alzheimer disease. in some cases, ppa is caused by mutations in the grn gene and is inherited in an autosomal dominant maner. ppa can be classified into three distinct types which include progressive non-fluent aphasia (pnfa), semantic dementia (sd), and the logopenic variant (lpa). last updated: 9/10/2014

NINDS : 51 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick’s disease, the name and classification of FTD has been a topic of discussion for over a century.  The current designation of the syndrome groups together Pick’s disease, primary progressive aphasia, and semantic dementia as FTD.  Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex.  These designations will continue to be debated.  As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language.  The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation.  The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral type’s symptoms.  Spatial skills and memory remain intact.  There is a strong genetic component to the disease; FTD often runs in families.

UniProtKB/Swiss-Prot : 66 Ubiquitin-positive frontotemporal dementia: Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease.

Related Diseases for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

Diseases related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
id Related Disease Score Top Affiliating Genes
1 semantic dementia 11.9
2 logopenic progressive aphasia 11.7
3 grn-related frontotemporal dementia 11.5
4 dementia, frontotemporal 11.2
5 pick disease 11.0
6 progressive non-fluent aphasia 11.0
7 aphasia 10.3
8 protein r deficiency 10.3 GRN MAPT
9 femoral neuropathy 10.2 GRN MAPT
10 osteogenesis imperfecta, type vi 10.2 C9orf72 TARDBP
11 pancreatitis 10.1 GRN PSEN1
12 spinal cord glioma 10.1 C9orf72 TARDBP
13 cerebral arteritis 10.1 PSEN1 TARDBP
14 deafness, autosomal recessive 101 10.1 MAPT RPS27A
15 dementia 10.1
16 urethritis 10.1 PSEN1 TARDBP
17 mcleod neuroacanthocytosis syndrome 10.1 MAPT PSEN1
18 encephalitozoonosis 10.1 GRN PSEN1
19 riedel's fibrosing thyroiditis 10.1 MAPT TARDBP
20 acquired metabolic disease 10.1 GRN PSEN1
21 social emotional agnosia 10.1 GRN PSEN1 TARDBP
22 hyperglycemia 10.1 GRN PSEN1
23 pericardial tuberculosis 10.1 TARDBP VCP
24 color agnosia 10.0 GRN PSEN1 TARDBP
25 autoimmune disease of blood 10.0 GRN PSEN1 TARDBP
26 meier-gorlin syndrome 5 10.0 GRN MAPT RPS27A
27 craniofacial and skeletal defects 10.0 MAPT RPS27A TARDBP
28 autotopagnosia 10.0 C9orf72 GRN MAPT
29 chorioamnionitis 10.0 C9orf72 TARDBP
30 pediatric mesenchymal chondrosarcoma 10.0 GRN PSEN1 TARDBP
31 gata1-related thrombocytopenia 10.0 GRN MAPT PSEN1
32 intracranial structure hemangioma 10.0 MAPT PSEN1
33 hereditary paraganglioma-pheochromocytoma syndromes 10.0 GRN MAPT PSEN1
34 autism 19 10.0 MAPT RPS27A SQSTM1
35 carpenter syndrome 10.0 C9orf72 TREM2
36 cogan-reese syndrome 10.0 TARDBP VCP
37 gallbladder adenoma 10.0 CHMP2B MAPT RPS27A
38 personality disorder 10.0 GRN MAPT PSEN1
39 fanconi renotubular syndrome 1 10.0 MAPT TARDBP
40 cyprus facial neuromusculoskeletal syndrome 10.0 MAPT RPS27A
41 adrenal cortical adenoma 10.0 SQSTM1 TARDBP VCP
42 mitochondrial dna depletion syndrome 3 9.9 C9orf72 GRN MAPT TARDBP
43 epithelioid type angiomyolipoma 9.9 MAPT PSEN1 TARDBP
44 acrofrontofacionasal dysostosis 9.9 GRN MAPT PSEN1 TARDBP
45 postauricular lymphadenitis 9.9 GRN MAPT PSEN1 TARDBP
46 sting-associated vasculopathy, infantile-onset 9.9 C9orf72 TARDBP VCP
47 hypoproteinemia, hypercatabolic 9.9 C9orf72 MAPT RPS27A TARDBP
48 spondyloarthropathy 1 9.7 GRN MAPT PSEN1 SQSTM1 TARDBP
49 autoimmune disease of urogenital tract 9.7 C9orf72 GRN MAPT PSEN1 TARDBP
50 coenzyme q10 deficiency, primary, 1 9.7 GRN MAPT PSEN1 RPS27A TARDBP

Graphical network of the top 20 diseases related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:



Diseases related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions

Symptoms & Phenotypes for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

Symptoms by clinical synopsis from OMIM:

607485

Clinical features from OMIM:

607485

Human phenotypes related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 personality changes 56 32 Occasional (29-5%) HP:0000751
2 dysphasia 56 32 Very frequent (99-80%) HP:0002357
3 memory impairment 56 32 Very frequent (99-80%) HP:0002354
4 aphasia 56 32 Very frequent (99-80%) HP:0002381
5 apraxia 56 32 Frequent (79-30%) HP:0002186
6 parkinsonism 56 32 Occasional (29-5%) HP:0001300
7 mutism 56 32 Occasional (29-5%) HP:0002300
8 frontotemporal dementia 56 32 Very frequent (99-80%) HP:0002145
9 perseveration 56 32 Occasional (29-5%) HP:0030223
10 agitation 32 HP:0000713
11 abnormality of extrapyramidal motor function 56 Occasional (29-5%)
12 restlessness 56 Occasional (29-5%)
13 depression 56 Frequent (79-30%)
14 behavioral abnormality 56 Occasional (29-5%)
15 hallucinations 32 HP:0000738
16 thickened nuchal skin fold 56 Very frequent (99-80%)
17 anxiety 56 Frequent (79-30%)
18 cerebral cortical atrophy 32 HP:0002120
19 dysgraphia 56 Occasional (29-5%)
20 hypersexuality 32 HP:0030214
21 stroke 56 Excluded (0%)
22 mental deterioration 56 Very frequent (99-80%)
23 polyphagia 32 HP:0002591
24 astrocytosis 56 Occasional (29-5%)
25 abnormal lower motor neuron morphology 56 Occasional (29-5%)
26 apathy 32 HP:0000741
27 disinhibition 32 HP:0000734
28 abnormal brain fdg positron emission tomography 56 Frequent (79-30%)
29 neuronal loss in central nervous system 32 HP:0002529
30 gliosis 32 HP:0002171
31 abnormality of the cerebral white matter 56 Frequent (79-30%)
32 hyperorality 32 HP:0000710
33 frontotemporal cerebral atrophy 56 Very frequent (99-80%)
34 eeg with continuous slow activity 56 Frequent (79-30%)
35 neurofibrillary tangles 56 Excluded (0%)
36 motor aphasia 56 Occasional (29-5%)
37 grammar-specific speech disorder 56 Very frequent (99-80%)
38 temporal cortical atrophy 56 Very frequent (99-80%)
39 alexia 56 Frequent (79-30%)
40 spoken word recognition deficit 56 Very frequent (99-80%)
41 brain neoplasm 56 Excluded (0%)
42 senile plaques 56 Occasional (29-5%)
43 lewy bodies 56 Excluded (0%)
44 dilation of lateral ventricles 32 HP:0006956
45 progressive language deterioration 32 HP:0007064
46 repetitive compulsive behavior 32 HP:0008762

UMLS symptoms related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:


personality changes, agitation, memory loss, restlessness

MGI Mouse Phenotypes related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 C9orf72 GRN MAPT PSEN1 SQSTM1 TARDBP
2 hematopoietic system MP:0005397 9.8 C9orf72 GRN MAPT PSEN1 SQSTM1 TARDBP
3 immune system MP:0005387 9.76 C9orf72 GRN MAPT PSEN1 SQSTM1 TARDBP
4 nervous system MP:0003631 9.56 TARDBP VCP C9orf72 CHMP2B GRN MAPT
5 no phenotypic analysis MP:0003012 9.02 C9orf72 GRN MAPT TARDBP TREM2

Drugs & Therapeutics for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

Drugs for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 99)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2 19982-08-2 4054
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Amantadine Approved Phase 4 768-94-5 2130
5 Fluorodeoxyglucose F18 Phase 4,Phase 2,Phase 1
6 Antiparkinson Agents Phase 4,Phase 3,Phase 2
7 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
9 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
10 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
11 Antidepressive Agents Phase 4,Phase 2
12 Antidepressive Agents, Second-Generation Phase 4
13 Neurotransmitter Uptake Inhibitors Phase 4
14 Psychotropic Drugs Phase 4,Phase 2
15
Serotonin Phase 4 50-67-9 5202
16 Serotonin Agents Phase 4
17 Serotonin Uptake Inhibitors Phase 4
18
Corticosterone Phase 4,Phase 1,Early Phase 1 50-22-6 5753
19 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
20 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
21 Peripheral Nervous System Agents Phase 4,Phase 2
22 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
23 Anti-Inflammatory Agents Phase 4
24 cadexomer iodine Phase 4
25
Iodine Phase 4 7553-56-2 807
26 Analgesics Phase 4
27 Analgesics, Non-Narcotic Phase 4
28 Calamus Nutraceutical Phase 4
29
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
30
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
31
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
32
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
33
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
34
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
35 tannic acid Approved, Nutraceutical Phase 3
36
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
37 Anti-HIV Agents Phase 3,Phase 2,Phase 1
38 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
39 Cardiac Glycosides Phase 3,Phase 2,Phase 1
40 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
41 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
42 Alkylating Agents Phase 2, Phase 3
43 Antilymphocyte Serum Phase 2, Phase 3
44 Antineoplastic Agents, Alkylating Phase 2, Phase 3
45 Antirheumatic Agents Phase 2, Phase 3
46 Immunosuppressive Agents Phase 2, Phase 3
47 Methylprednisolone acetate Phase 2, Phase 3
48 Methylprednisolone Hemisuccinate Phase 2, Phase 3
49 Prednisolone acetate Phase 2, Phase 3
50 Prednisolone hemisuccinate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 136)
id Name Status NCT ID Phase
1 Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4
2 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4
3 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4
4 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4
5 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Terminated NCT00127114 Phase 4
6 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3
7 Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3
8 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3
9 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
10 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Recruiting NCT02534844 Phase 2, Phase 3
11 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3
12 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3
13 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3
14 Open-Label Study of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Enrolling by invitation NCT02245568 Phase 3
15 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
16 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3
17 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
18 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2
19 A Pilot Study to Explore the Safety and Tolerability of Galantamine HBr in the Treatment of Pick Complex/Frontotemporal Dementia Completed NCT00416169 Phase 2
20 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2
21 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2
22 Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2
23 Electroencephalography (EEG) Biofeedback Training to Improve Executive Functioning and Memory in Adults With a Dementing Illness Completed NCT01168466 Phase 2
24 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
25 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
26 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2
27 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2
28 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Recruiting NCT01937013 Phase 2
29 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2
30 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Recruiting NCT02414230 Phase 2
31 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Recruiting NCT02292654 Phase 1, Phase 2
32 Effects of Tolcapone on Frontotemporal Dementia Active, not recruiting NCT00604591 Phase 2
33 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Active, not recruiting NCT01056965 Phase 2
34 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
35 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2
36 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Enrolling by invitation NCT02676843 Phase 2
37 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2
38 F 18 T807 Tau PET Imaging of Frontotemporal Dementia (FTD) Not yet recruiting NCT02707978 Phase 2
39 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
40 Far Infrared Irradiation for the Management, Control and Treatment of Frontotemporal Dementia Unknown status NCT00674960 Phase 1
41 Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment Unknown status NCT00149175 Phase 1
42 Far Infrared Radiation Treatment of Dementia and Other Mental Illness Unknown status NCT00574054 Phase 1
43 Safety Study of Intranasal Oxytocin in Frontotemporal Dementia Completed NCT01386333 Phase 1
44 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
45 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1
46 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1
47 Amyloid-related Imaging Abnormalities (Microbleeds) in Atypical AD Completed NCT01723553 Phase 1
48 Dose Finding Study of Nimodipine for the Treatment of Progranulin Insufficiency From GRN Gene Mutations Completed NCT01835665 Phase 1
49 Evaluation of [18F]MNI-777 PET as a Marker of Tau Pathology in Subjects With Tauopathies Compared to Healthy Subjects Completed NCT02103894 Phase 1
50 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1

Search NIH Clinical Center for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions

Genetic Tests for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

Genetic tests related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia, Ubiquitin-Positive 29
2 Primary Progressive Aphasia 29

Anatomical Context for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

MalaCards organs/tissues related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

39
Brain, Skin

Publications for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

Articles related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

id Title Authors Year
1
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry. ( 18379439 )
2008
2
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. ( 17334266 )
2007
3
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update. ( 17596717 )
2007
4
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. ( 17278999 )
2007
5
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. ( 17353379 )
2007
6
TDP-43 pathologic lesions and clinical phenotype in frontotemporal lobar degeneration with ubiquitin-positive inclusions. ( 17923628 )
2007
7
TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions. ( 17356379 )
2007
8
Appearance pattern of TDP-43 in Japanese frontotemporal lobar degeneration with ubiquitin-positive inclusions. ( 17507161 )
2007
9
Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. ( 17003490 )
2006

Variations for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

66
id Symbol AA change Variation ID SNP ID
1 GRN p.Ala9Asp VAR_044451 rs63751243

ClinVar genetic disease variations for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 GRN GRN, IVS0DS, G-C, +5 single nucleotide variant Pathogenic
2 GRN NM_002087.3(GRN): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic rs63750077 GRCh37 Chromosome 17, 42427619: 42427619
3 GRN NM_002087.3(GRN): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs63751006 GRCh37 Chromosome 17, 42426534: 42426534
4 GRN NM_002087.3(GRN): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs63750331 GRCh37 Chromosome 17, 42426535: 42426535
5 GRN NM_002087.3(GRN): c.93_96dupCCTG (p.Asp33Profs) duplication Pathogenic rs606231220 GRCh38 Chromosome 17, 44349257: 44349260
6 GRN NM_002087.3(GRN): c.388_391delCAGT (p.Gln130Serfs) deletion Pathogenic rs63749801 GRCh37 Chromosome 17, 42427634: 42427637
7 GRN NM_002087.3(GRN): c.835+1G> A single nucleotide variant Pathogenic rs606231221 GRCh38 Chromosome 17, 44351164: 44351164
8 GRN NM_002087.3(GRN): c.26C> A (p.Ala9Asp) single nucleotide variant Pathogenic rs63751243 GRCh37 Chromosome 17, 42426558: 42426558
9 GRN NM_002087.3(GRN): c.1477C> T (p.Arg493Ter) single nucleotide variant Pathogenic rs63751294 GRCh37 Chromosome 17, 42429772: 42429772
10 GRN GRN, 1-BP DEL, 998G deletion Pathogenic
11 GRN GRN, 1-BP INS, 1145A insertion Pathogenic
12 GRN GRN, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
13 GRN GRN, 2-BP DEL, 675CA deletion Pathogenic
14 GRN GRN, IVS6AS, A-G, -2 single nucleotide variant Pathogenic
15 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh37 Chromosome 17, 42428509: 42428512
16 GRN GRN, 1-BP DEL, 102C deletion Pathogenic
17 GRN GRN, 1-BP DEL, 154A deletion Pathogenic
18 GRN GRN, IVS6AS, G-A, -1 single nucleotide variant Pathogenic

Expression for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

Search GEO for disease gene expression data for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions.

Pathways for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

Pathways related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.43 MAPT PSEN1 TARDBP TREM2
2
Show member pathways
10.98 RPS27A SQSTM1
3 10.91 MAPT PSEN1
4 10.72 RPS27A VCP
5 10.03 RPS27A VCP

GO Terms for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

Cellular components related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.26 C9orf72 CHMP2B GRN SQSTM1
2 aggresome GO:0016235 9.16 PSEN1 SQSTM1
3 lysosome GO:0005764 8.92 C9orf72 CHMP2B GRN SQSTM1

Biological processes related to Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endosome organization GO:0007032 9.43 CHMP2B SQSTM1
2 translesion synthesis GO:0019985 9.4 RPS27A VCP
3 viral life cycle GO:0019058 9.37 CHMP2B RPS27A
4 macroautophagy GO:0016236 9.33 CHMP2B RPS27A SQSTM1
5 positive regulation of macroautophagy GO:0016239 9.32 C9orf72 SQSTM1
6 error-free translesion synthesis GO:0070987 9.26 RPS27A VCP
7 endosomal transport GO:0016197 9.13 CHMP2B RPS27A SQSTM1
8 autophagy GO:0006914 9.02 C9orf72 CHMP2B PSEN1 SQSTM1 VCP

Sources for Frontotemporal Lobar Degeneration with Ubiquitin-Positive...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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