MCID: FRN031
MIFTS: 53

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions

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

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

MalaCards integrated aliases for Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions:

Name: Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions 54
Primary Progressive Aphasia 50 51 29 69
Aphasia, Primary Progressive 54 50 13
Frontotemporal Dementia, Ubiquitin-Positive 50 29
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 69
Grn-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 12
Tau-Negative Frontotemporal Dementia Linked to Chromosome 17 71
Dementia, Hereditary Dysphasic Disinhibition 50
Ubiquitin-Positive Frontotemporal Dementia 71
Primary Progressive Aphasia Syndrome 50
Aphasia Primary Progressive 52
Frontotemporal Dementia 69
Up-Ftd 71
Hddd 50
Ppa 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset about 62 years (45-79 years)
most common subtype of frontotemporal dementia
haploinsufficiency of grn


HPO:

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


Classifications:



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

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.

MalaCards based summary : Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions, also known as primary progressive aphasia, is related to pick disease and semantic dementia, and has symptoms including personality changes, parkinsonism and hallucinations. An important gene associated with Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions is GRN (Granulin Precursor), and among its related pathways/superpathways is Pink/Parkin Mediated Mitophagy. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and liver.

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

OMIM : 54
Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; 600274) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD; 104300) or Parkinson disease (PD; 168600), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). (607485)

UniProtKB/Swiss-Prot : 71 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 all 44)
id Related Disease Score Top Affiliating Genes
1 pick disease 29.3 GRN MAPT RPS27A SQSTM1 TARDBP
2 semantic dementia 11.8
3 logopenic progressive aphasia 11.7
4 dementia, frontotemporal 11.6
5 progressive non-fluent aphasia 11.6
6 grn-related frontotemporal dementia 11.4
7 aphasia 10.4
8 simultanagnosia 10.3 GRN TARDBP
9 autotopagnosia 10.3 GRN TARDBP
10 perry syndrome 10.2 GRN TARDBP
11 syndromic intellectual disability 10.2 SQSTM1 TARDBP
12 dementia 10.1
13 propriospinal myoclonus 9.9 GRN MAPT
14 riedel's fibrosing thyroiditis 9.8 MAPT TARDBP
15 melanoma, cutaneous malignant, 2 9.8 GRN SQSTM1 TARDBP
16 thyroid dyshormonogenesis 6 9.8 MAPT TARDBP
17 nosophobia 9.8 GRN MAPT
18 hyperekplexia, hereditary 1, autosomal dominant or recessive 9.7 MAPT RPS27A
19 auditory agnosia 9.7 GRN MAPT
20 basilar impression, primary 9.7 MAPT RPS27A
21 myoclonic epilepsy associated with ragged-red fibers 9.6 MAPT RPS27A
22 hepatic angiomyolipoma 9.6 MAPT TARDBP
23 3mc syndrome 9.5 GRN MAPT TARDBP
24 submandibular adenitis 9.5 GRN MAPT TARDBP
25 mesenchymal chondrosarcoma 9.5 GRN MAPT TARDBP
26 personality disorder 9.5 GRN MAPT
27 adrenal gland pheochromocytoma 9.5 MAPT RPS27A
28 progressive bulbar palsy 9.5 GRN MAPT TARDBP
29 isolated focal cortical dysplasia type ic 9.5 GRN MAPT SQSTM1
30 tendinopathy 9.5 GRN MAPT TARDBP
31 prostate carcinoma in situ 9.5 GRN MAPT TARDBP
32 supranuclear palsy, progressive atypical 9.4 GRN MAPT RPS27A
33 cough headache 9.4 MAPT RPS27A TARDBP
34 mast syndrome 9.4 MAPT RPS27A TARDBP
35 parietal foramina 3 9.3 MAPT RPS27A SQSTM1
36 seow najjar syndrome 9.1 GRN MAPT RPS27A TARDBP
37 parkinson disease 1 9.0 GRN MAPT RPS27A TARDBP
38 eumycotic mycetoma 9.0 GRN MAPT SQSTM1 TARDBP
39 cardiomyopathy, dilated, 1u 8.9 MAPT RPS27A SQSTM1 TARDBP
40 allergic bronchopulmonary aspergillosis, familial 8.9 MAPT RPS27A SQSTM1 TARDBP
41 hypersensitivity syndrome, carbamazepine-induced 8.7 MAPT SQSTM1 TARDBP
42 mucopolysaccharidosis iii 8.5 GRN MAPT RPS27A SQSTM1 TARDBP
43 long qt syndrome 5 8.5 GRN MAPT RPS27A SQSTM1 TARDBP
44 ceroid lipofuscinosis, neuronal, 11 7.9 GRN LOC643387 MAPT RPS27A SQSTM1 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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
memory loss
dysphasia
enlarged lateral ventricles
mutism
apraxia
more
Neurologic- Behavioral Psychiatric Manifestations:
personality changes
hallucinations
apathy
agitation
disinhibition
more

Clinical features from OMIM:

607485

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

32 (show all 22)
id Description HPO Frequency HPO Source Accession
1 personality changes 32 HP:0000751
2 parkinsonism 32 HP:0001300
3 hallucinations 32 HP:0000738
4 cerebral cortical atrophy 32 HP:0002120
5 memory impairment 32 HP:0002354
6 apathy 32 HP:0000741
7 dysphasia 32 HP:0002357
8 aphasia 32 HP:0002381
9 gliosis 32 HP:0002171
10 agitation 32 HP:0000713
11 disinhibition 32 HP:0000734
12 mutism 32 HP:0002300
13 apraxia 32 HP:0002186
14 frontotemporal dementia 32 HP:0002145
15 hyperorality 32 HP:0000710
16 polyphagia 32 HP:0002591
17 perseveration 32 HP:0030223
18 progressive language deterioration 32 HP:0007064
19 repetitive compulsive behavior 32 HP:0008762
20 hypersexuality 32 HP:0030214
21 dilation of lateral ventricles 32 HP:0006956
22 neuronal loss in central nervous system 32 HP:0002529

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


personality changes, agitation, memory loss, restlessness

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 113)
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
Corticosterone Experimental Phase 4,Phase 1,Early Phase 1 50-22-6 5753
5
Iodine Investigational Phase 4 7553-56-2 807
6 Fluorodeoxyglucose F18 Phase 4,Phase 2,Phase 1
7 Antiparkinson Agents Phase 4,Phase 3,Phase 2
8 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
10 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
12 Antidepressive Agents Phase 4,Phase 2,Phase 1
13 Antidepressive Agents, Second-Generation Phase 4
14 Neurotransmitter Uptake Inhibitors Phase 4
15 Psychotropic Drugs Phase 4,Phase 2,Phase 1
16
Serotonin Phase 4 50-67-9 5202
17 Serotonin Agents Phase 4
18 Serotonin Uptake Inhibitors Phase 4
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,Phase 1
22 Anti-Inflammatory Agents Phase 4,Phase 1
23 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
24 Analgesics Phase 4,Phase 1
25 Analgesics, Non-Narcotic Phase 4,Phase 1
26 cadexomer iodine Phase 4
27 Calamus Nutraceutical Phase 4
28
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
29
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
30
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
31
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
32
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
33
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
34
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
35
Iron Approved Phase 2, Phase 3 7439-89-6 23925
36 tannic acid Approved, Nutraceutical Phase 3
37
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
38 Anti-HIV Agents Phase 3,Phase 2,Phase 1
39 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
40 Cardiac Glycosides Phase 3,Phase 2,Phase 1
41 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
42 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
43 Alkylating Agents Phase 2, Phase 3
44 Antilymphocyte Serum Phase 2, Phase 3
45 Antirheumatic Agents Phase 2, Phase 3,Phase 1
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 141)

id Name Status NCT ID Phase Drugs
1 Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
2 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
3 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)
4 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
5 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
6 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
7 Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
8 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
9 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
10 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
11 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
12 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
13 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
14 Open-Label Study of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Enrolling by invitation NCT02245568 Phase 3 TRx0237
15 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Not yet recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
16 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
17 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
18 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
19 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
20 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
21 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
22 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
23 Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
24 Electroencephalography (EEG) Biofeedback Training to Improve Executive Functioning and Memory in Adults With a Dementing Illness Completed NCT01168466 Phase 2
25 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
26 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
27 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
28 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
29 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Recruiting NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
30 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
31 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
32 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Recruiting NCT02414230 Phase 2 Drug: F 18 T807
33 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 Olipudase alfa
34 Effects of Tolcapone on Frontotemporal Dementia Active, not recruiting NCT00604591 Phase 2 Tolcapone;Placebo
35 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Active, not recruiting NCT01056965 Phase 2 davunetide (AL-108, NAP);Placebo nasal spray
36 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
37 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
38 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Enrolling by invitation NCT02676843 Phase 2 18F-AV-1451
39 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
40 Intranasal Oxytocin for Frontotemporal Dementia Not yet recruiting NCT03260920 Phase 2 Syntocinon
41 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
42 F 18 T807 Tau PET Imaging of Frontotemporal Dementia (FTD) Withdrawn NCT02707978 Phase 2 F 18 T807
43 Far Infrared Irradiation for the Management, Control and Treatment of Frontotemporal Dementia Unknown status NCT00674960 Phase 1
44 Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment Unknown status NCT00149175 Phase 1
45 Far Infrared Radiation Treatment of Dementia and Other Mental Illness Unknown status NCT00574054 Phase 1
46 Safety Study of Intranasal Oxytocin in Frontotemporal Dementia Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist
47 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
48 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
49 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1 OGT918
50 Amyloid-related Imaging Abnormalities (Microbleeds) in Atypical AD Completed NCT01723553 Phase 1 C-11 PiB

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, Testes, Liver, Bone, Eye, Cortex, Prefrontal Cortex

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
TDP-43 pathologic lesions and clinical phenotype in frontotemporal lobar degeneration with ubiquitin-positive inclusions. ( 17923628 )
2007
3
TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions. ( 17356379 )
2007
4
Appearance pattern of TDP-43 in Japanese frontotemporal lobar degeneration with ubiquitin-positive inclusions. ( 17507161 )
2007
5
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. ( 17334266 )
2007
6
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. ( 17353379 )
2007
7
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update. ( 17596717 )
2007
8
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. ( 17278999 )
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:

71
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 20)
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
19 GRN NM_002087.3(GRN): c.708+1G> A single nucleotide variant Pathogenic rs63749817 GRCh37 Chromosome 17, 42428169: 42428169
20 GRN NM_002087.3(GRN): c.907delG (p.Ala303Profs) deletion Pathogenic GRCh38 Chromosome 17, 44351434: 44351434

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
Show member pathways
10.29 RPS27A SQSTM1

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

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 macroautophagy GO:0016236 8.96 RPS27A SQSTM1
2 endosomal transport GO:0016197 8.62 RPS27A SQSTM1

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

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43 MESH via Orphanet
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