FTDALS1
MCID: FRN044
MIFTS: 62

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 (FTDALS1)

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

Aliases & Classifications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

MalaCards integrated aliases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

Name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 56 12 73
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 56 12 73 13
Ftdals1 56 12 73 15
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29 6 71
Frontotemporal Dementia and/or Motor Neuron Disease 56 12 73
Ftdmnd 56 12 73
Alsftd 56 12 73
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 56 29
Frontotemporal Dementia with Motor Neuron Disease 58 71
Frontotemporal Lobar Degeneration 43 71
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis; Ftdals 56
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia; Alsftd 56
Dementia, Frontotemporal, and/or Amyotrophic Lateral Sclerosis 39
Frontotemporal Dementia and/or Motor Neuron Disease; Ftdmnd 56
Frontotemporal Dementia with Amyotrophic Lateral Sclerosis 58
Frontotemporal Dementia and Amyotrophic Lateral Sclerosis 36
Amyotrophic Lateral Sclerosis/frontotemporal Dementia 6
Grn-Related Frontotemporal Dementia 71
Ftd-Als 58
Ftd-Mnd 58
Ftdals 56

Characteristics:

Orphanet epidemiological data:

58
frontotemporal dementia with motor neuron disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

OMIM:

56
Miscellaneous:
rapidly progressive
onset in adulthood
patients can have als, ftd, or both
intrafamilial variability

Inheritance:
autosomal dominant


HPO:

31
frontotemporal dementia and/or amyotrophic lateral sclerosis 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

OMIM : 56 Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by Vance et al., 2006). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by Harms et al., 2013). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia (Meisler et al., 2013; Gomez-Tortosa et al., 2013). For a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see 600274. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; 105400). (105550)

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis and/or frontotemporal dementia, is related to amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and semantic dementia, and has symptoms including muscle weakness, abnormality of extrapyramidal motor function and paraparesis. An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 is C9orf72 (C9orf72-SMCR8 Complex Subunit), and among its related pathways/superpathways are Neuroscience and Autophagy - animal. The drugs Memantine and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and bone, and related phenotypes are frontotemporal dementia and abnormal upper motor neuron morphology

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.

KEGG : 36 Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked to both diseases may converge into a common pathogenetic pathway, explaining the overlap of clinical symptoms.

UniProtKB/Swiss-Prot : 73 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.

Related Diseases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Diseases in the Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 family:

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 33.8 UBQLN2 TARDBP SOD1 OPTN MATR3 FUS
2 semantic dementia 33.8 TMEM106B TARDBP MAPT GRN CHMP2B C9orf72
3 progressive non-fluent aphasia 33.7 VCP TMEM106B TBK1 MAPT GRN CHMP2B
4 pick disease of brain 33.2 VCP UBQLN2 TMEM106B TARDBP SQSTM1 SOD1
5 perry syndrome 33.1 VCP TARDBP MAPT GRN FUS CHMP2B
6 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 32.9 SQSTM1 CHCHD10
7 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 32.8 TBK1 CHCHD10
8 corticobasal degeneration 32.1 TARDBP MAPT
9 apraxia 32.1 MAPT GRN C9orf72
10 supranuclear palsy, progressive, 1 31.9 VCP TMEM106B TARDBP SOD1 MAPT GRN
11 alzheimer disease 31.7 VCP TARDBP SQSTM1 SOD1 MAPT GRN
12 primary lateral sclerosis, adult, 1 31.6 SOD1 MAPT
13 dementia 31.5 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
14 speech and communication disorders 31.5 VCP TARDBP MAPT GRN FUS CHMP2B
15 pseudobulbar palsy 31.5 TARDBP CHMP2B C9orf72
16 paget's disease of bone 31.5 VCP SQSTM1 OPTN
17 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 31.5 MAPT GRN
18 mutism 31.3 TARDBP MAPT GRN CHMP2B C9orf72
19 dyscalculia 31.3 VCP TARDBP GRN CHMP2B CBSL
20 prion disease 31.2 TARDBP SOD1 MAPT
21 machado-joseph disease 31.2 VCP TARDBP ATXN2
22 movement disease 31.2 TARDBP MAPT FUS CBSL C9orf72
23 nominal aphasia 31.2 VCP TARDBP MAPT GRN FUS CHMP2B
24 echolalia 31.1 MAPT GRN C9orf72
25 alexia 31.1 MAPT GRN CBSL
26 autosomal dominant cerebellar ataxia 31.1 VCP TARDBP SOD1 MAPT FUS C9orf72
27 parkinson disease, late-onset 31.1 VCP SQSTM1 SOD1 MAPT C9orf72 ATXN2
28 ideomotor apraxia 31.1 TARDBP MAPT GRN CBSL
29 tremor 31.1 MAPT FUS ATXN2
30 prosopagnosia 31.1 TARDBP MAPT GRN CHMP2B C9orf72
31 agraphia 31.0 TARDBP MAPT GRN CBSL C9orf72
32 akinetic mutism 31.0 TARDBP MAPT
33 amyotrophic lateral sclerosis 12 31.0 UBQLN2 TARDBP OPTN FUS CHMP2B
34 speech disorder 31.0 TARDBP MAPT GRN CBSL C9orf72
35 inclusion body myositis 31.0 VCP TARDBP SQSTM1 OPTN MAPT
36 aphasia 31.0 VCP TMEM106B TBK1 TARDBP OPTN MAPT
37 dysgraphia 31.0 TARDBP MAPT GRN CHMP2B CBSL C9orf72
38 motor neuron disease 31.0 VCP TBK1 TARDBP SQSTM1 SOD1 OPTN
39 dystonia 30.9 SQSTM1 GRN FUS CHMP2B C9orf72
40 amyotrophic lateral sclerosis 17 30.9 UBQLN2 CHMP2B
41 aceruloplasminemia 30.8 SOD1 MAPT C9orf72 ATXN2
42 lateral sclerosis 30.8 VCP UBQLN2 TBK1 TARDBP SQSTM1 SOD1
43 dementia, lewy body 30.8 VCP TARDBP SOD1 MAPT GRN FUS
44 inclusion body myopathy with paget disease of bone and frontotemporal dementia 30.7 VCP UBQLN2 TARDBP SQSTM1 SOD1 OPTN
45 hereditary spastic paraplegia 30.7 VCP UBQLN2 C9orf72 ATXN2
46 frontotemporal dementia 30.7 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
47 amyotrophic lateral sclerosis 1 30.4 WDR41 VCP UBQLN2 TMEM106B TBK1 TARDBP
48 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 13.2
49 spastic paraplegia-paget disease of bone syndrome 10.7 VCP SQSTM1
50 muscular atrophy 10.7 TARDBP FUS CHCHD10 C9orf72

Graphical network of the top 20 diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:



Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Symptoms & Phenotypes for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Human phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontotemporal dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002145
2 abnormal upper motor neuron morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002127
3 abnormal lower motor neuron morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002366
4 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
7 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
8 apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0002186
9 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
10 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
11 degeneration of the lateral corticospinal tracts 58 31 frequent (33%) Frequent (79-30%) HP:0002314
12 generalized amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003700
13 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
14 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
15 gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002171
16 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
17 tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002273
18 paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002385
19 dyscalculia 58 31 frequent (33%) Frequent (79-30%) HP:0002442
20 neuronal loss in the cerebral cortex 58 31 frequent (33%) Frequent (79-30%) HP:0007190
21 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
22 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
23 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
24 disinhibition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000734
25 bulbar palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001283
26 supranuclear gaze palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000605
27 abnormal mitochondrial morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0008322
28 bilateral sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008619
29 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
30 global brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002283
31 perseveration 58 31 occasional (7.5%) Occasional (29-5%) HP:0030223
32 ptosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000508
33 muscle weakness 31 HP:0001324
34 behavioral abnormality 58 Frequent (79-30%)
35 skeletal muscle atrophy 31 HP:0003202
36 amyotrophic lateral sclerosis 31 HP:0007354
37 abnormality of extrapyramidal motor function 58 Frequent (79-30%)
38 cerebral atrophy 31 HP:0002059
39 neuronal loss in central nervous system 31 HP:0002529
40 extrapyramidal dyskinesia 31 HP:0007308
41 delusions 31 HP:0000746
42 weakness due to upper motor neuron dysfunction 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
hallucinations
apraxia
parkinsonism
gliosis
more
Neurologic Behavioral Psychiatric Manifestations:
apathy
depression
executive dysfunction
poor judgement

Muscle Soft Tissue:
muscle weakness
muscle atrophy

Head And Neck Eyes:
supranuclear gaze palsy (less common)

Clinical features from OMIM:

105550

UMLS symptoms related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:


muscle weakness, abnormality of extrapyramidal motor function, paraparesis, quadriparesis

MGI Mouse Phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 ATXN2 C9orf72 CBSL CHCHD10 GRN MAPT
2 growth/size/body region MP:0005378 10.21 ATXN2 C9orf72 CBSL CHCHD10 GRN IFT74
3 homeostasis/metabolism MP:0005376 10.21 ATXN2 C9orf72 CBSL CHCHD10 GRN MAPT
4 cellular MP:0005384 10.2 C9orf72 CBSL CHCHD10 GRN MAPT MATR3
5 hematopoietic system MP:0005397 10.18 C9orf72 CBSL CHCHD10 GRN MAPT SMCR8
6 immune system MP:0005387 10.13 C9orf72 CBSL CHCHD10 GRN MAPT OPTN
7 integument MP:0010771 9.86 C9orf72 CBSL GRN MAPT SOD1 SQSTM1
8 mortality/aging MP:0010768 9.8 ATXN2 C9orf72 CBSL CHCHD10 CHMP2B GRN
9 liver/biliary system MP:0005370 9.7 ATXN2 C9orf72 CBSL GRN SOD1 SQSTM1
10 nervous system MP:0003631 9.36 ATXN2 C9orf72 CBSL CHCHD10 CHMP2B GRN

Drugs & Therapeutics for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Drugs for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
4
Citalopram Approved Phase 4 59729-33-8 2771
5 Neurotransmitter Agents Phase 4
6 Dopamine Agents Phase 4
7 Antiparkinson Agents Phase 4
8 Excitatory Amino Acid Antagonists Phase 4
9 Excitatory Amino Acids Phase 4
10 Narcotics Phase 4
11 Antipyretics Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Analgesics, Opioid Phase 4
14 Central Nervous System Depressants Phase 4
15 Analgesics Phase 4
16 Narcotic Antagonists Phase 4
17 Psychotropic Drugs Phase 4
18 Serotonin Uptake Inhibitors Phase 4
19 Antidepressive Agents Phase 4
20 Serotonin Agents Phase 4
21
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
22
Galantamine Approved Phase 2 357-70-0 9651
23 Sympathomimetics Phase 2
24 Catechol O-Methyltransferase Inhibitors Phase 2
25 Catechol Phase 2
26 Autonomic Agents Phase 2
27 Protective Agents Phase 2
28 Nootropic Agents Phase 2
29 Cholinergic Agents Phase 2
30 Cholinesterase Inhibitors Phase 2
31
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
32
Corticosterone Experimental Phase 1 50-22-6 5753
33 Fluorodeoxyglucose F18 Phase 1
34 Deoxyglucose Phase 1
35 Tin Fluorides Phase 1
36 Antibodies, Monoclonal Phase 1
37 Immunoglobulins Phase 1
38 Antibodies Phase 1
39
Dopamine Approved 51-61-6, 62-31-7 681
40 Tranquilizing Agents
41 Central Nervous System Stimulants
42 Antipsychotic Agents
43 Anti-Bacterial Agents
44 interferons
45 Antibiotics, Antitubercular
46 Anti-Infective Agents
47 Adjuvants, Immunologic
48 Antiviral Agents
49 polysaccharide-K
50 Interferon Inducers

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4 Memantine
2 Efficacy of Pain Treatment on Depression in Patients With Dementia. A Randomized Clinical Trial. Completed NCT02267057 Phase 4 Paracetamol;Buprenorphine;Paracetamol placebo;Buprenorphine placebo
3 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
4 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
5 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
6 An Open Pilot Study to Evaluate the Safety and Efficacy of Galantamine in the Treatment of Pick's Disease/Frontotemporal Dementia /Pick Complex Completed NCT00416169 Phase 2 galantamine hydrobromide
7 A 12 Week Randomized, Double Blind, Placebo-Controlled Pilot Study of Davunetide (NAP, AL-108) in Predicted Tauopathies Completed NCT01056965 Phase 1 davunetide (AL-108, NAP);Placebo nasal spray
8 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
9 Alzheimer's PET Imaging in Racially/Ethnically Diverse Adults Recruiting NCT03706261 Phase 1 18F-MK-6240;18F-Florbetaben
10 Open Label Study for the Use of Tyrosine Kinase Inhibitors for Treatment of Cognitive Decline Due to Degenerative Dementias Enrolling by invitation NCT02921477 Phase 1 bosutinib
11 A Phase 1b, Randomized, Double-Blind, Placebo-Controlled, Parallel Cohort Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy Study of Intravenously Infused BIIB092 in Patients With Four Different Primary Tauopathy Syndromes Terminated NCT03658135 Phase 1 BIIB092
12 Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Unknown status NCT02590276
13 Social Cognition in Ageing and in Frontotemporal Lobar Degeneration (Frontotemporal Dementia and Semantic Dementia): a Cognitive and Neuroimaging Study Unknown status NCT01962064
14 Identification of New Genes Causing Frontotemporal Lobar Degeneration by Whole Exome Sequencing and Characterization of the Associated Phenotypes Unknown status NCT02363062
15 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
16 Psycho-behavioral Disorders in Frontotemporal Lobar Degeneration: Validation of a Quantification and Follow-up Scale Completed NCT02889601
17 Neuropsychological and Anatomical Study of Concept Formation in Frontal Patients Completed NCT01100281
18 A Non-Blinded, Non-Significant Risk Study With a Non-Invasive, Passive Pressure Wave Method of Diagnosing Brain Pathologies to Develop a Diagnostic Algorithm for Alzheimer Disease and Other Dementias. Completed NCT02333942
19 The Ontario Neurodegenerative Disease Research Initiative Completed NCT04104373
20 University of California, San Francisco (UCSF) and University of Nebraska Medical Center (UNMC) Care Ecosystem Completed NCT02213458
21 Treatment Study for Frontotemporal Dementia Completed NCT00088751
22 PET Evaluation of Brain Peripheral Benzodiazepine Receptors Using [11C]PBR28 in Neurological Disorders Completed NCT00613119
23 Assessment of Social-emotional Functioning in Stroke, Frontotemporal Dementia, Alzheimer and Parkinson Diseases Completed NCT01339130
24 Measurement of P-Glycoprotein Function in Alzheimer Disease, Parkinson Disease, and Frontotemporal Dementia Using Positron Emission Tomography Completed NCT00677885
25 Pilot Study of EEG and Cerebral Blood Flow Biofeedback Training in Remediating Cognitive and Behavioral Deficits in Adults With a Dementing Illness. Completed NCT01168466
26 Rare Diseases Clinical Research Network Advancing Research and Treatment for Frontotemporal Lobar Degeneration [ARTFL]: Research Projects 1 & 2 Recruiting NCT02365922
27 Multimodal Assessment For Predicting Specific Pathological Substrate in Frontotemporal Lobar Degeneration Recruiting NCT02964637
28 Assessing Changes in Social Cognition and Personality in Patients With Frontotemporal Lobar Degeneration, Alzheimer's Disease and Parkinson's Disease and Their Effect on the Patient-caregiver Relationship Recruiting NCT02964611
29 Multidisciplinary and Personalized Care of Behavioral Disorders in Frontotemporal Lobar Degeneration. Recruiting NCT03606798
30 Patients With Alzheimer's Disease or Related Youth Disease Recruiting NCT03508024
31 Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism. Recruiting NCT00821132
32 Family Studies in Neuromuscular Disorders Recruiting NCT01459302
33 Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers Recruiting NCT04014673
34 Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Recruiting NCT03225144
35 Language in Primary Progressive Aphasia Recruiting NCT00537004
36 Rehabilitative Trial for the Recovery of Neurophysiological Parameters in Progranulin Mutation Carriers Through the Use of Transcranial Direct Current Stimulation (tDCS) Recruiting NCT02999282
37 Assessment of Apathy in a Real-life Situation, With a Video and Sensors-based System in Healthy Subject and Patient With Cerebral Disease Recruiting NCT03272230
38 A Multi-centre Proof-of-performance Clinical Study to Validate Blood-based Biomarker Candidates for the Diagnosis of Alzheimer's Disease Recruiting NCT03030586
39 Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Active, not recruiting NCT01925196
40 Communication Bridge Speech Therapy Research Study: Using Internet-Based Speech Therapy to Improve Quality of Life and Access to Care Active, not recruiting NCT02439853
41 Imaging Tau Deposition in the Brain of Elderly Subjects Enrolling by invitation NCT02958670
42 A Randomized, Double-blinded, Sham-controlled Cross-over Study of Theta-burst Transcranial Magnetic Stimulation in Nonfluent/Agrammatic Variant Primary Progressive Aphasia Not yet recruiting NCT03153540
43 Genetic Linkage in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Terminated NCT00159198
44 Biomarkers in Neurodegenerative Diseases Withdrawn NCT04055532

Search NIH Clinical Center for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Cochrane evidence based reviews: frontotemporal lobar degeneration

Genetic Tests for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Genetic tests related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29 C9orf72
2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 29

Anatomical Context for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

MalaCards organs/tissues related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

40
Brain, Temporal Lobe, Bone, Spinal Cord, Cortex, Skeletal Muscle, T Cells

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Articles related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

(show top 50) (show all 100)
# Title Authors PMID Year
1
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. 56 6
23393093 2013
2
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. 56 6
22739338 2013
3
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. 56 6
23111906 2013
4
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. 56 6
22692064 2013
5
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. 56 6
23284068 2013
6
Chromosome 9 ALS and FTD locus is probably derived from a single founder. 56 6
21925771 2012
7
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 56 6
21944779 2011
8
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. 56 6
21944778 2011
9
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. 56 6
21072532 2011
10
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. 56 6
20562461 2011
11
RNA phase transitions in repeat expansion disorders. 56
28562589 2017
12
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. 56
27516603 2016
13
Is SIGMAR1 a confirmed FTD/MND gene? 56
26088964 2015
14
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. 56
26308899 2015
15
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. 56
26308891 2015
16
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. 6
25943890 2015
17
CHCHD10-Related Disorders 6
26131548 2015
18
Jump from pre-mutation to pathologic expansion in C9orf72. 56
26004200 2015
19
Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. 56
25712133 2015
20
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. 6
25803835 2015
21
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 6
25114083 2015
22
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 6
25577942 2015
23
Identical twins with the C9orf72 repeat expansion are discordant for ALS. 56
25209579 2014
24
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. 56
25103406 2014
25
Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells. 56
25081482 2014
26
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 6
24899140 2014
27
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. 6
24934289 2014
28
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. 56
24706941 2014
29
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. 6
24300238 2014
30
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. 6
23942205 2014
31
C9orf72 nucleotide repeat structures initiate molecular cascades of disease. 56
24598541 2014
32
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. 56
24057670 2014
33
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. 56
24363131 2014
34
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 6
24042580 2013
35
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. 56
24139042 2013
36
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. 56
24027057 2013
37
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. 56
23720273 2013
38
Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. 56
23731538 2013
39
C9ORF72 expansion in a family with bipolar disorder. 56
23551834 2013
40
The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. 56
23423380 2013
41
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. 56
23434116 2013
42
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. 56
22650353 2013
43
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. 56
22936364 2013
44
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. 56
23437264 2013
45
Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. 56
22964910 2012
46
C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. 56
22964911 2012
47
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. 56
22637429 2012
48
Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. 56
22637471 2012
49
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. 56
22843265 2012
50
Exome sequencing identifies FUS mutations as a cause of essential tremor. 6
22863194 2012

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

ClinVar genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

6 (show top 50) (show all 99) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C9orf72 NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]NT expansion Pathogenic 31151 rs143561967 9:27573527-27573532 9:27573529-27573534
2 SQSTM1 NM_003900.5(SQSTM1):c.1165+1G>ASNV Pathogenic 8110 rs796051870 5:179260783-179260783 5:179833783-179833783
3 C9orf72 NT expansion Pathogenic 183034 rs143561967 9:27573527-27573532 9:27573523-27573524
4 SQSTM1 NM_003900.5(SQSTM1):c.835_837GAG[1] (p.Glu280del)short repeat Conflicting interpretations of pathogenicity 475406 rs752009611 5:179260112-179260114 5:179833112-179833114
5 SQSTM1 NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg)SNV Uncertain significance 475407 rs1012113887 5:179248022-179248022 5:179821022-179821022
6 SQSTM1 NM_003900.5(SQSTM1):c.800G>A (p.Arg267His)SNV Uncertain significance 475405 rs149424705 5:179260077-179260077 5:179833077-179833077
7 SQSTM1 NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu)SNV Uncertain significance 475401 rs371719657 5:179250888-179250888 5:179823888-179823888
8 SQSTM1 NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln)SNV Uncertain significance 475395 rs200551825 5:179263448-179263448 5:179836448-179836448
9 SQSTM1 NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln)SNV Uncertain significance 475400 rs778554903 5:179250873-179250873 5:179823873-179823873
10 SQSTM1 NM_003900.5(SQSTM1):c.268G>A (p.Val90Met)SNV Uncertain significance 475399 rs181263868 5:179250020-179250020 5:179823020-179823020
11 SQSTM1 NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)SNV Uncertain significance 423540 rs773552098 5:179247982-179247982 5:179820982-179820982
12 C9orf72 NM_001256054.2(C9orf72):c.*1262A>CSNV Uncertain significance 366487 rs886063833 9:27546972-27546972 9:27546974-27546974
13 C9orf72 NM_001256054.2(C9orf72):c.*673T>CSNV Uncertain significance 366494 rs886063835 9:27547561-27547561 9:27547563-27547563
14 C9orf72 NM_001256054.2(C9orf72):c.*577G>CSNV Uncertain significance 366496 rs886063836 9:27547657-27547657 9:27547659-27547659
15 C9orf72 NM_001256054.2(C9orf72):c.1424G>A (p.Arg475Gln)SNV Uncertain significance 366507 rs750045383 9:27548256-27548256 9:27548258-27548258
16 C9orf72 NM_001256054.2(C9orf72):c.*73G>ASNV Uncertain significance 366505 rs886063841 9:27548161-27548161 9:27548163-27548163
17 SQSTM1 NM_003900.5(SQSTM1):c.532-7C>ASNV Uncertain significance 650579 5:179251175-179251175 5:179824175-179824175
18 SQSTM1 NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys)SNV Uncertain significance 648242 5:179260714-179260714 5:179833714-179833714
19 SQSTM1 NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys)SNV Uncertain significance 655119 5:179260701-179260701 5:179833701-179833701
20 SQSTM1 NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu)SNV Uncertain significance 647353 5:179260612-179260612 5:179833612-179833612
21 SQSTM1 NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)SNV Uncertain significance 642133 5:179260612-179260612 5:179833612-179833612
22 SQSTM1 NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly)SNV Uncertain significance 650222 5:179260603-179260603 5:179833603-179833603
23 SQSTM1 NM_003900.5(SQSTM1):c.962G>A (p.Arg321His)SNV Uncertain significance 660485 5:179260239-179260239 5:179833239-179833239
24 SQSTM1 NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met)SNV Uncertain significance 644501 5:179251312-179251312 5:179824312-179824312
25 SQSTM1 NM_003900.5(SQSTM1):c.650G>A (p.Arg217His)SNV Uncertain significance 644082 5:179251300-179251300 5:179824300-179824300
26 SQSTM1 NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys)SNV Uncertain significance 644487 5:179251299-179251299 5:179824299-179824299
27 SQSTM1 NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg)SNV Uncertain significance 666096 5:179251282-179251282 5:179824282-179824282
28 SQSTM1 NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg)SNV Uncertain significance 639243 5:179251221-179251221 5:179824221-179824221
29 SQSTM1 NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp)SNV Uncertain significance 661331 5:179251037-179251037 5:179824037-179824037
30 SQSTM1 NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)SNV Uncertain significance 644285 5:179250972-179250972 5:179823972-179823972
31 SQSTM1 NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu)SNV Uncertain significance 639635 5:179250957-179250957 5:179823957-179823957
32 SQSTM1 NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met)SNV Uncertain significance 641109 5:179250937-179250937 5:179823937-179823937
33 SQSTM1 NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe)SNV Uncertain significance 639220 5:179250015-179250015 5:179823015-179823015
34 SQSTM1 NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser)SNV Uncertain significance 646289 5:179248090-179248090 5:179821090-179821090
35 SQSTM1 NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)SNV Uncertain significance 664776 5:179248075-179248075 5:179821075-179821075
36 SQSTM1 NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu)SNV Uncertain significance 475402 rs151191977 5:179252155-179252155 5:179825155-179825155
37 C9orf72 NM_001256054.2(C9orf72):c.*552A>CSNV Uncertain significance 366497 rs886063837 9:27547682-27547682 9:27547684-27547684
38 C9orf72 NM_001256054.2(C9orf72):c.*356T>GSNV Uncertain significance 366498 rs886063838 9:27547878-27547878 9:27547880-27547880
39 C9orf72 NM_001256054.2(C9orf72):c.1260-13dupduplication Uncertain significance 366510 rs749166700 9:27548431-27548432 9:27548433-27548434
40 C9orf72 NM_001256054.2(C9orf72):c.1260-14_1260-13deldeletion Uncertain significance 366514 rs886063842 9:27548433-27548434 9:27548435-27548436
41 C9orf72 NM_001256054.2(C9orf72):c.1260-15_1260-13deldeletion Uncertain significance 366515 rs886063843 9:27548433-27548435 9:27548435-27548437
42 C9orf72 NM_001256054.2(C9orf72):c.1260-39_1260-37dupduplication Uncertain significance 366517 rs11292923 9:27548433-27548434 9:27548435-27548436
43 C9orf72 NM_001256054.2(C9orf72):c.1260-14deldeletion Uncertain significance 366520 rs11292923 9:27548434-27548434 9:27548436-27548436
44 C9orf72 NM_001256054.2(C9orf72):c.*794_*797deldeletion Uncertain significance 366493 rs886063834 9:27547437-27547440 9:27547439-27547442
45 C9orf72 NM_001256054.2(C9orf72):c.*317A>GSNV Uncertain significance 366499 rs886063839 9:27547917-27547917 9:27547919-27547919
46 C9orf72 NM_001256054.2(C9orf72):c.*250T>CSNV Uncertain significance 366501 rs886063840 9:27547984-27547984 9:27547986-27547986
47 C9orf72 NM_001256054.2(C9orf72):c.*122G>ASNV Uncertain significance 366504 rs549202876 9:27548112-27548112 9:27548114-27548114
48 C9orf72 NM_001256054.2(C9orf72):c.1426G>C (p.Asp476His)SNV Uncertain significance 366506 rs767272170 9:27548254-27548254 9:27548256-27548256
49 C9orf72 NM_001256054.2(C9orf72):c.1260-12_1260-11insTinsertion Uncertain significance 366509 rs1554659312 9:27548431-27548432 9:27548433-27548434
50 C9orf72 NM_001256054.2(C9orf72):c.1260-13_1260-12insTinsertion Uncertain significance 366511 rs772249544 9:27548432-27548433 9:27548434-27548435

Copy number variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 112169 17 38100000 38400000 Deletion MAPT Frontotemporal lobar degeneration
2 112794 17 41065963 41505032 Insertion CRHR1 Frontotemporal lobar degeneration
3 112795 17 41065963 41505032 Insertion IMP5 Frontotemporal lobar degeneration
4 112796 17 41065963 41505032 Insertion MAPT Frontotemporal lobar degeneration
5 112797 17 41065963 41505032 Insertion STH Frontotemporal lobar degeneration
6 113644 17 44900000 47400000 Deletion GRN Frontotemporal lobar degeneration

Expression for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Search GEO for disease gene expression data for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1.

Pathways for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Pathways related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.99 TARDBP SOD1 OPTN MAPT
2 11.16 WDR41 TBK1 SQSTM1 SMCR8 C9orf72
3 10.94 TBK1 SQSTM1 OPTN

GO Terms for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Cellular components related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.32 VCP UBQLN2 TARDBP SQSTM1 SOD1 SMCR8
2 cytoplasm GO:0005737 10.24 WDR41 VCP UBQLN2 TBK1 TARDBP SQSTM1
3 cytoplasmic vesicle GO:0031410 9.93 UBQLN2 SQSTM1 SOD1 OPTN IFT74 C9orf72
4 endosome GO:0005768 9.88 TMEM106B SQSTM1 OPTN GRN CHMP2B C9orf72
5 lysosome GO:0005764 9.8 TMEM106B SQSTM1 SOD1 GRN CHMP2B C9orf72
6 autophagosome GO:0005776 9.56 UBQLN2 SQSTM1 OPTN C9orf72
7 cytoplasmic stress granule GO:0010494 9.46 VCP TARDBP C9orf72 ATXN2
8 main axon GO:0044304 9.43 MAPT C9orf72
9 guanyl-nucleotide exchange factor complex GO:0032045 9.13 WDR41 SMCR8 C9orf72
10 Atg1/ULK1 kinase complex GO:1990316 8.8 WDR41 SMCR8 C9orf72

Biological processes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.73 TBK1 TARDBP SMCR8 MAPT
2 macroautophagy GO:0016236 9.58 VCP SQSTM1 CHMP2B
3 positive regulation of superoxide anion generation GO:0032930 9.49 SOD1 MAPT
4 lysosomal transport GO:0007041 9.48 TMEM106B GRN
5 gene expression GO:0010467 9.46 TARDBP FUS
6 regulation of autophagy GO:0010506 9.46 WDR41 SMCR8 MAPT C9orf72
7 regulation of autophagosome assembly GO:2000785 9.37 UBQLN2 C9orf72
8 regulation of TORC1 signaling GO:1903432 9.32 SMCR8 C9orf72
9 positive regulation of xenophagy GO:1904417 9.26 TBK1 OPTN
10 autophagy GO:0006914 9.23 WDR41 VCP UBQLN2 SQSTM1 SMCR8 OPTN
11 stress granule assembly GO:0034063 9.13 MAPT C9orf72 ATXN2

Molecular functions related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 WDR41 VCP UBQLN2 TMEM106B TBK1 TARDBP
2 RNA binding GO:0003723 9.91 VCP TARDBP MATR3 MAPT GRN FUS
3 chaperone binding GO:0051087 9.5 SOD1 MAPT GRN
4 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.43 WDR41 SMCR8 C9orf72
5 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.4 SQSTM1 OPTN
6 polyubiquitin modification-dependent protein binding GO:0031593 9.33 VCP UBQLN2 OPTN
7 identical protein binding GO:0042802 9.28 VCP TBK1 TARDBP SQSTM1 SOD1 OPTN

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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