MCID: CRT033
MIFTS: 58

Corticobasal Degeneration

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corticobasal Degeneration

MalaCards integrated aliases for Corticobasal Degeneration:

Name: Corticobasal Degeneration 54 55 30 74
Corticobasal Syndrome 54 60 6
Cortical-Basal Ganglionic Degeneration 54
Cortico-Basal Ganglionic Degeneration 54
Cbgd 54

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G31.0
Orphanet 60 ORPHA454887
UMLS 74 C0393570

Summaries for Corticobasal Degeneration

NINDS : 55 Corticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually affect both sides as the disease progresses. Symptoms are similar to those found in Parkinson disease, such as poor coordination, akinesia (an absence of movements), rigidity (a resistance to imposed movement),disequilibrium (impaired balance); and limb dystonia (abnormal muscle postures). Other symptoms such as cognitive and visual-spatial impairments, apraxia (loss of the ability to make familiar, purposeful movements), hesitant and halting speech, myoclonus (muscular jerks), and dysphagia (difficulty swallowing) may also occur. An individual with corticobasal degeneration eventually becomes unable to walk.

MalaCards based summary : Corticobasal Degeneration, also known as corticobasal syndrome, is related to supranuclear palsy, progressive, 1 and frontotemporal lobar degeneration with tdp43 inclusions, grn-related. An important gene associated with Corticobasal Degeneration is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Human cytomegalovirus infection and NFAT and Cardiac Hypertrophy. The drugs Iodine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and tongue, and related phenotypes are gait disturbance and tremor

NIH Rare Diseases : 54 Corticobasal degeneration is characterized by the break down (degeneration) of parts of the brain, including the cerebral cortex and basal ganglia. The cerebral cortex is responsible for most of the brain's processing of information, and the basal ganglia are deep brain structures that help start and control movement. Signs and symptoms of corticobasal degeneration include poor coordination, loss of movement, rigidity, poor balance, unnatural posturing of the muscles, intellectual (cognitive) impairment, speech impairment, muscular jerks, and difficulty swallowing. These symptoms develop and worsen over time. Currently the cause of corticobasal degeneration is not known. Treatment depends on the symptoms in each person. People with corticobasal degeneration usually do not survive beyond an average of 7 years after symptoms begin. Aspiration pneumonia or other complications are usually the cause of death.

Wikipedia : 77 Corticobasal degeneration is a rare, neurodegenerative disease involving the cerebral cortex and the... more...

Related Diseases for Corticobasal Degeneration

Diseases related to Corticobasal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 32.9 LRRK2 MAPT RPS27A
2 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 32.7 MAPT RPS27A
3 pick disease of brain 32.6 CRYAB MAPT RPS27A TARDBP
4 semantic dementia 32.5 MAPT RPS27A TARDBP
5 frontotemporal dementia 32.1 CRYAB LRRK2 MAPT RPS27A TARDBP
6 leukoencephalopathy, hereditary diffuse, with spheroids 32.0 CRYAB MAPT RPS27A
7 dementia 30.9 GBA LRRK2 MAPT TARDBP
8 multiple system atrophy 1 30.8 LRRK2 MAPT RPS27A
9 movement disease 30.0 GBA LRRK2 MAPT
10 amyotrophic lateral sclerosis 1 29.6 CRYAB HSPB2 MAPT RPS27A TARDBP
11 progressive supranuclear palsy-corticobasal syndrome 12.3
12 apraxia 10.7
13 alzheimer disease 10.7
14 aphasia 10.6
15 myoclonus 10.5
16 creutzfeldt-jakob disease 10.3
17 dystonia 10.3
18 hereditary late-onset parkinson disease 10.2 GBA LRRK2
19 tremor 10.1 GBA LRRK2 MAPT
20 basal ganglia calcification 10.1
21 neuroleptic malignant syndrome 10.1
22 lateral sclerosis 10.1
23 rem sleep behavior disorder 10.1
24 progressive non-fluent aphasia 10.1
25 depression 10.1
26 motor neuron disease 10.1
27 hemiparkinsonism-hemiatrophy syndrome 10.1
28 inclusion body myositis 10.1 MAPT RPS27A TARDBP
29 postencephalitic parkinson disease 10.1 LRRK2 MAPT TARDBP
30 nominal aphasia 10.0 MAPT TARDBP
31 agraphia 10.0
32 dysgraphia 10.0
33 carotid artery occlusion 10.0
34 parkinson disease 3, autosomal dominant 10.0 LRRK2 MAPT
35 cataract 16, multiple types 10.0 CRYAB HSPB2 PITX3
36 stiff-person syndrome 10.0
37 hydrocephalus, normal-pressure 10.0
38 apraxia of eyelid opening 10.0
39 spinocerebellar ataxia 8 10.0
40 hydrocephalus 10.0
41 pulmonary fibrosis 10.0
42 asymptomatic neurosyphilis 10.0
43 patulous eustachian tube 10.0
44 olivopontocerebellar atrophy 10.0
45 antiphospholipid syndrome 10.0
46 complex regional pain syndrome 10.0
47 striatonigral degeneration 10.0
48 alien hand syndrome 10.0
49 arachnoid cysts 10.0
50 charles bonnet syndrome 10.0

Graphical network of the top 20 diseases related to Corticobasal Degeneration:



Diseases related to Corticobasal Degeneration

Symptoms & Phenotypes for Corticobasal Degeneration

Human phenotypes related to Corticobasal Degeneration:

60 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 60 Frequent (79-30%)
2 tremor 60 Frequent (79-30%)
3 dysphasia 60 Occasional (29-5%)
4 behavioral abnormality 60 Very rare (<4-1%)
5 abnormality of movement 60 Very rare (<4-1%)
6 myoclonus 60 Very frequent (99-80%)
7 dystonia 60 Occasional (29-5%)
8 memory impairment 60 Occasional (29-5%)
9 aphasia 60 Occasional (29-5%)
10 dementia 60 Frequent (79-30%)
11 involuntary movements 60 Frequent (79-30%)
12 bradykinesia 60 Frequent (79-30%)
13 parkinsonism 60 Very frequent (99-80%)
14 sensory impairment 60 Frequent (79-30%)
15 postural instability 60 Frequent (79-30%)
16 speech apraxia 60 Occasional (29-5%)
17 akinesia 60 Frequent (79-30%)
18 limb myoclonus 60 Frequent (79-30%)
19 limb dystonia 60 Frequent (79-30%)
20 progressive extrapyramidal muscular rigidity 60 Very frequent (99-80%)
21 limb apraxia 60 Frequent (79-30%)
22 frontal release signs 60 Frequent (79-30%)
23 oromotor apraxia 60 Frequent (79-30%)

GenomeRNAi Phenotypes related to Corticobasal Degeneration according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
2 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
3 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Corticobasal Degeneration:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 CFL1 CRYAB GBA HSPB2 LRRK2 MAPT
2 cellular MP:0005384 10.29 CFL1 CRYAB GBA HSPB2 LRRK2 MAPT
3 cardiovascular system MP:0005385 10.27 CFL1 GBA HSPB2 LRRK2 MAPT MTOR
4 homeostasis/metabolism MP:0005376 10.22 CFL1 GBA KIF13B LRRK2 MAPT MTOR
5 growth/size/body region MP:0005378 10.2 CFL1 GBA MAPT MTOR PITX3 ROCK1
6 hematopoietic system MP:0005397 10.17 CSF3 GBA LRRK2 MAPT MTOR PITX3
7 immune system MP:0005387 10.11 CSF3 GBA LRRK2 MAPT MTOR PITX3
8 integument MP:0010771 9.97 CFL1 CSF3 GBA LRRK2 MAPT PITX3
9 nervous system MP:0003631 9.93 CFL1 GBA LRRK2 MAPT MOBP MTOR
10 muscle MP:0005369 9.86 CRYAB MAPT MTOR ROCK1 ROCK2 RPS6KB1
11 no phenotypic analysis MP:0003012 9.56 CFL1 KIF13B LRRK2 MAPT MTOR PITX3
12 renal/urinary system MP:0005367 9.17 CFL1 CSF3 LRRK2 MAPT MTOR ROCK1

Drugs & Therapeutics for Corticobasal Degeneration

Drugs for Corticobasal Degeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 4 7553-56-2 807
2 Pharmaceutical Solutions Phase 4
3 Calamus Phase 4
4 cadexomer iodine Phase 4
5
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
6
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
7 Nutrients Phase 2, Phase 3
8 Micronutrients Phase 2, Phase 3
9 Vitamins Phase 2, Phase 3
10 Ubiquinone Phase 2, Phase 3
11 Trace Elements Phase 2, Phase 3
12 Tranquilizing Agents Phase 3,Phase 1,Phase 2
13 Psychotropic Drugs Phase 3,Phase 1,Phase 2
14 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
15 Antipsychotic Agents Phase 3
16 Neurotransmitter Agents Phase 3
17 Serotonin Antagonists Phase 3
18 Serotonin Agents Phase 3
19 Serotonin 5-HT2 Receptor Antagonists Phase 3
20 Antiparkinson Agents Phase 3
21
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
22
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
23 Antidepressive Agents Phase 1, Phase 2
24 Antimanic Agents Phase 1, Phase 2
25 Radiopharmaceuticals Phase 2,Not Applicable
26 Fluorodeoxyglucose F18 Phase 2
27 Immunoglobulins Phase 1
28 Antibodies, Monoclonal Phase 1
29 Antibodies Phase 1
30 taxane Phase 1
31
Entacapone Approved, Investigational 130929-57-6 5281081
32
Ropinirole Approved, Investigational 91374-20-8, 91374-21-9 5095 497540
33
Carbidopa Approved 28860-95-9 34359
34
Levodopa Approved 59-92-7 6047
35
Pramipexole Approved, Investigational 104632-26-0 119570 59868
36
Amantadine Approved 768-94-5 2130
37 Flutemetamol Investigational Not Applicable 637003-10-2
38 leucine
39 Vaccines Not Applicable
40 Immunologic Factors Not Applicable

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
2 Effects of Coenzyme Q10 in PSP and CBD Completed NCT00532571 Phase 2, Phase 3 CoQ10
3 Relapse Prevention Study of Pimavanserin in Dementia-related Psychosis Recruiting NCT03325556 Phase 3 Placebo;Pimavanserin 34 mg;Pimavanserin 20 mg
4 A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal Degeneration Completed NCT00703677 Phase 1, Phase 2 Lithium
5 Electrical Polarization of the Brain in Corticobasal Syndrome Completed NCT00273897 Phase 2
6 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography Completed NCT01824056 Phase 2 18F-FDG
7 Novel Neuroimage Study in Tauopathies With Parkinsonism Active, not recruiting NCT03386669 Phase 2 F-18
8 Tau Imaging in Subjects With Progressive Supranuclear Palsy, Corticobasal Degeneration and Healthy Volunteers Completed NCT02167594 Phase 1 18F-AV-1451;florbetapir F18
9 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Completed NCT01056965 Phase 1 davunetide (AL-108, NAP);Placebo nasal spray
10 BIIB092 in Primary Tauopathies: CBS, nfvPPA, sMAPT, and TES Recruiting NCT03658135 Phase 1 BIIB092
11 Safety Study of TPI-287 to Treat CBS and PSP Active, not recruiting NCT02133846 Phase 1 TPI 287 2 mg/m2;TPI-287 20 mg/m2;Placebo;TPI-287 6.3 mg/m2
12 Parkinson's Disease, Diagnostic Observations (PADDO) Unknown status NCT01249768
13 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
14 Repetitive Transcranial Magnetic Stimulation (TMS) for Progressive Supranuclear Palsy and Corticobasal Degeneration Completed NCT01174771
15 Study of Tongue Pressures Completed NCT00013832
16 SudoScan as a Biomarker of Parkinson's Disease Completed NCT02767037 Not Applicable
17 PROgressive Supranuclear Palsy CorTico-Basal Syndrome Multiple System Atrophy Longitudinal Study UK Recruiting NCT02778607
18 Human CNS Tau Kinetics in Tauopathies Recruiting NCT03545126
19 4-Repeat Tauopathy Neuroimaging Initiative - Cycle 2 Recruiting NCT02966145
20 More Than a Movement Disorder: Applying Palliative Care to Parkinson's Disease Recruiting NCT03076671 Not Applicable
21 Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) Recruiting NCT02365922
22 Smell, Voice and Nasal Swabs as Markers for Neuro-degenerative Disorders Recruiting NCT03299062 Not Applicable
23 ADDIA Proof-of-Performance Clinical Study Recruiting NCT03030586
24 Gait Analysis in Neurological Disease Recruiting NCT02994719 Anti-Parkinson medication
25 PET Tau - Neurodegenerative Disease Imaging Recruiting NCT03143374
26 Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Recruiting NCT03225144
27 The Swedish BioFINDER 2 Study Recruiting NCT03174938 Not Applicable
28 Diagnosing Frontotemporal Lobar Degeneration Recruiting NCT02964637
29 In-Home Care for Patients With PSP and Related Disorders Recruiting NCT03552484 Not Applicable
30 Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks Recruiting NCT03153371
31 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
32 Comprehensive Assessment of Neurodegeneration and Dementia Recruiting NCT03402919
33 4 Repeat Tauopathy Neuroimaging Initiative Active, not recruiting NCT01804452
34 Study for the Early Diagnosis of Parkinson's Disease Active, not recruiting NCT02283073
35 Defining Phenotypes of Movement Disorders :Parkinson's Plus Disorders (PD), Essential Tremor (ET), Cortical Basal Degeneration (CBD), Multiple Systems Atrophy (MSA), Magnetoencephalography. Active, not recruiting NCT02132052
36 The Sunnybrook Dementia Study: Mapping Brain Changes in Alzheimer's, Vascular and Other Dementias Active, not recruiting NCT01800214
37 Vaccination Uptake (VAX) in PD Active, not recruiting NCT02874274 Not Applicable
38 Expanded Access to ABBV-8E12 Available NCT03744546 ABBV-8E12
39 Brain Network Activation in Patients With Movement Disorders Not yet recruiting NCT03269201
40 Autologous Stem/Stromal Cells in Neurological Disorders and Disease Not yet recruiting NCT03297177 Not Applicable

Search NIH Clinical Center for Corticobasal Degeneration

Genetic Tests for Corticobasal Degeneration

Genetic tests related to Corticobasal Degeneration:

# Genetic test Affiliating Genes
1 Corticobasal Degeneration 30

Anatomical Context for Corticobasal Degeneration

MalaCards organs/tissues related to Corticobasal Degeneration:

42
Cortex, Brain, Tongue, Testes, Eye, Spinal Cord, Temporal Lobe

Publications for Corticobasal Degeneration

Articles related to Corticobasal Degeneration:

(show top 50) (show all 613)
# Title Authors Year
1
Improved mobility, cognition and disease severity in Corticobasal Degeneration of an African-American male after 12 weeks of Adapted tango: a case study. ( 30801264 )
2019
2
Rare histotype of sporadic Creutzfeldt-Jakob disease, clinically suspected as corticobasal degeneration. ( 30850568 )
2019
3
Primary progressive dysarthria as the initial presentation of corticobasal degeneration: A case report. ( 31053355 )
2019
4
Pathophysiology of corticobasal degeneration: Insights from neurophysiological studies. ( 30327223 )
2019
5
Botulinum toxin for the treatment of dystonia and pain in corticobasal syndrome. ( 31074111 )
2019
6
Persistence of limb dystonia and myoclonus during sleep in corticobasal syndrome: a case series. ( 30853191 )
2019
7
Corticobasal syndrome with visual hallucinations and probable REM-sleep behavior disorder: an autopsied case report of a patient with CBD and LBD pathology. ( 31006355 )
2019
8
Clinical, neuropsychological and imaging characteristics of Alzheimer's disease patients presenting as corticobasal syndrome. ( 30711771 )
2019
9
Accumulation of Tau Protein, Metabolism and Perfusion-Application and Efficacy of Positron Emission Tomography (PET) and Single Photon Emission Computed Tomography (SPECT) Imaging in the Examination of Progressive Supranuclear Palsy (PSP) and Corticobasal Syndrome (CBS). ( 30837933 )
2019
10
Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging. ( 30927559 )
2019
11
Longitudinal changes in 18 F-THK5351 positron emission tomography in corticobasal syndrome. ( 30980575 )
2019
12
Dual-Phase 18F-FP-CIT PET in Corticobasal Syndrome. ( 30371594 )
2019
13
FDG-PET patterns associated with underlying pathology in corticobasal syndrome. ( 30700592 )
2019
14
Corticobasal syndrome: neuroimaging and neurophysiological advances. ( 30720235 )
2019
15
Mixed Alzheimer's and Lewy-related Pathology Can Cause Corticobasal Syndrome with Visual Hallucinations. ( 30799336 )
2019
16
Authors' Reply: Mixed Alzheimer's and Lewy-related Pathology can Cause Corticobasal Syndrome with Visual Hallucinations. ( 30799371 )
2019
17
Corticobasal Syndrome Associated with Antiphospholipid Syndrome Secondary to Systemic Lupus Erythematosus. ( 29854505 )
2018
18
A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome. ( 29969053 )
2018
19
Lower limb apraxia in corticobasal syndrome. ( 30103952 )
2018
20
Clinical and imaging progression over 10 years in a patient with primary progressive apraxia of speech and autopsy-confirmed corticobasal degeneration. ( 29799310 )
2018
21
Myoclonus-Dominant Corticobasal Degeneration. ( 30637289 )
2018
22
Corticobasal degeneration: key emerging issues. ( 29063240 )
2018
23
Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype. ( 29926172 )
2018
24
Cognitive reserve maps the core loci of neurodegeneration in corticobasal degeneration. ( 29931723 )
2018
25
Clinical Routine FDG-PET Imaging of Suspected Progressive Supranuclear Palsy and Corticobasal Degeneration: A Gatekeeper for Subsequent Tau-PET Imaging? ( 29973914 )
2018
26
Bilateral upper limb rehabilitation with videogame-based feedback in corticobasal degeneration: a case reports study. ( 30015554 )
2018
27
Is it Useful to Classify Progressive Supranuclear Palsy and Corticobasal Degeneration as Different Disorders? No. ( 30363409 )
2018
28
Long-Term Non-Invasive Treatment via Intranasal Administration of Nerve Growth Factor Protects the Human Brain in Frontotemporal Dementia associated with Corticobasal Syndrome: A Pilot Study. ( 30480250 )
2018
29
Assessment of Patient Self-awareness and Related Neural Correlates in Frontotemporal Dementia and Corticobasal Syndrome. ( 29088311 )
2018
30
Early stage memory impairment, visual hallucinations, and myoclonus combined with temporal lobe atrophy predict Alzheimer's disease pathology in corticobasal syndrome. ( 29987978 )
2018
31
Blink reflex recovery cycle to differentiate progressive supranuclear palsy from corticobasal syndrome. ( 29754397 )
2018
32
Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum. ( 30364808 )
2018
33
Globular Glial Tauopathy May be Mistaken for Corticobasal Syndrome-Pointers for the Clinician. ( 30838299 )
2018
34
Subacute corticobasal syndrome following internal carotid endarterectomy. ( 29153271 )
2018
35
Diagnosing Corticobasal Syndrome Based on the Presence of Visual Hallucinations and Imaging with Amyloid Positron Emission Tomography. ( 29269636 )
2018
36
Neurophysiology and neurochemistry of corticobasal syndrome. ( 29307007 )
2018
37
[18F] AV-1451 uptake in corticobasal syndrome: the influence of beta-amyloid and clinical presentation. ( 29497818 )
2018
38
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease. ( 29898972 )
2018
39
PBB3 binding in a patient with corticobasal syndrome. ( 29932465 )
2018
40
Disease-related patterns of in vivo pathology in Corticobasal syndrome. ( 30090966 )
2018
41
24S-Hydroxycholesterol Correlates With Tau and Is Increased in Cerebrospinal Fluid in Parkinson's Disease and Corticobasal Syndrome. ( 30245667 )
2018
42
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease. ( 30455262 )
2018
43
Reduced capacity for empathy in corticobasal syndrome and its impact on carer burden. ( 30520157 )
2018
44
Reversible Corticobasal Syndrome due to Coeliac Disease. ( 30637273 )
2018
45
Differentiating cognitive impairment due to corticobasal degeneration and Alzheimer disease. ( 28235814 )
2017
46
A case of superior sagittal sinus intracranial dural arteriovenous fistula mimicking corticobasal syndrome. ( 28431635 )
2017
47
Dopamine transporter imaging as a diagnostic modality for atypical Alzheimer's disease mimicking corticobasal degeneration. ( 26781839 )
2017
48
Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration. ( 27709685 )
2017
49
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. ( 28271184 )
2017
50
Levodopa-responsive depression associated with corticobasal degeneration: a case report. ( 28458551 )
2017

Variations for Corticobasal Degeneration

ClinVar genetic disease variations for Corticobasal Degeneration:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBK1 NM_013254.4(TBK1): c.2107G> T (p.Glu703Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 64498008: 64498008
2 TBK1 NM_013254.4(TBK1): c.2107G> T (p.Glu703Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 64891788: 64891788

Expression for Corticobasal Degeneration

Search GEO for disease gene expression data for Corticobasal Degeneration.

Pathways for Corticobasal Degeneration

Pathways related to Corticobasal Degeneration according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 CFL1 MTOR ROCK1 ROCK2 RPS6KB1 SOS1
2
Show member pathways
12.7 MTOR ROCK1 ROCK2 RPS6KB1 SOS1
3 12.68 MTOR ROCK1 ROCK2 RPS6KB1 SOS1
4 12.44 LRRK2 MAPT RPS27A TARDBP UCHL1
5
Show member pathways
12.39 CFL1 MAPT ROCK1 ROCK2
6 12.37 CFL1 MAPT ROCK1 ROCK2
7
Show member pathways
12.28 MTOR ROCK1 ROCK2 RPS6KB1 SOS1
8
Show member pathways
12.23 MAPT ROCK1 ROCK2 SOS1
9 11.94 CFL1 MAPT MTOR RPS6KB1
10 11.87 CFL1 MTOR ROCK1 RPS6KB1 SOS1
11 11.81 MTOR RPS6KB1 SOS1
12
Show member pathways
11.54 MTOR RPS6KB1 SOS1
13
Show member pathways
11.4 CFL1 ROCK1 ROCK2 SOS1
14 11.4 HSPB2 MTOR ROCK1 ROCK2 RPS6KB1 SOS1
15 11.34 MTOR ROCK1 ROCK2 RPS6KB1 SOS1
16 11.28 CFL1 ROCK1 ROCK2
17 11.28 CFL1 ROCK1 ROCK2 SOS1
18 11.18 MTOR ROCK1 ROCK2 RPS6KB1 SOS1
19 11.16 MTOR RPS6KB1 SOS1
20 11.07 CFL1 ROCK1 ROCK2 RPS6KB1
21 10.75 MTOR RPS6KB1

GO Terms for Corticobasal Degeneration

Cellular components related to Corticobasal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.91 CRYAB LRRK2 MAPT MOBP MTOR PRDX5
2 cytosol GO:0005829 9.83 CFL1 CRYAB HSPB2 KIF13B LRRK2 MAPT
3 axon GO:0030424 9.65 CRYAB KIF13B LRRK2 MAPT UCHL1
4 neuronal cell body GO:0043025 9.63 LRRK2 MAPT MTOR PITX3 SOS1 UCHL1
5 mitochondrial outer membrane GO:0005741 9.62 LRRK2 MTOR RPS27A RPS6KB1
6 cytoplasm GO:0005737 9.55 CFL1 CRYAB HSPB2 KIF13B LRRK2 MAPT

Biological processes related to Corticobasal Degeneration according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.93 CFL1 LRRK2 MTOR ROCK1 ROCK2 RPS6KB1
2 Rho protein signal transduction GO:0007266 9.79 CFL1 ROCK1 ROCK2
3 negative regulation of protein phosphorylation GO:0001933 9.79 LRRK2 MTOR TARDBP
4 regulation of autophagy GO:0010506 9.77 LRRK2 MAPT ROCK1
5 cellular response to starvation GO:0009267 9.74 GBA LRRK2 MTOR
6 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.73 ROCK1 ROCK2 RPS27A
7 peptidyl-threonine phosphorylation GO:0018107 9.72 LRRK2 MTOR ROCK2
8 regulation of actin cytoskeleton organization GO:0032956 9.71 MTOR ROCK1 ROCK2
9 regulation of macroautophagy GO:0016241 9.7 GBA MTOR UCHL1
10 regulation of establishment of cell polarity GO:2000114 9.67 ROCK1 ROCK2
11 smooth muscle contraction GO:0006939 9.66 ROCK1 ROCK2
12 regulation of dendritic spine morphogenesis GO:0061001 9.66 CFL1 LRRK2
13 regulation of keratinocyte differentiation GO:0045616 9.65 ROCK1 ROCK2
14 regulation of stress fiber assembly GO:0051492 9.65 ROCK1 ROCK2
15 TOR signaling GO:0031929 9.65 MTOR RPS6KB1
16 negative regulation of neuron death GO:1901215 9.65 CSF3 GBA LRRK2
17 negative regulation of macroautophagy GO:0016242 9.64 LRRK2 MTOR
18 positive regulation of connective tissue replacement GO:1905205 9.63 ROCK1 ROCK2
19 regulation of protein metabolic process GO:0051246 9.63 GBA ROCK2
20 response to transforming growth factor beta GO:0071559 9.62 ROCK1 ROCK2
21 axonal transport of mitochondrion GO:0019896 9.61 MAPT UCHL1
22 intracellular distribution of mitochondria GO:0048312 9.6 LRRK2 MAPT
23 negative regulation of protein homooligomerization GO:0032463 9.58 CRYAB GBA
24 regulation of mitochondrial fission GO:0090140 9.58 LRRK2 MAPT
25 negative regulation of biomineral tissue development GO:0070168 9.51 ROCK1 ROCK2
26 regulation of cellular response to heat GO:1900034 9.5 CRYAB MAPT MTOR
27 regulation of establishment of endothelial barrier GO:1903140 9.49 ROCK1 ROCK2
28 peptidyl-serine phosphorylation GO:0018105 9.46 LRRK2 MTOR ROCK2 RPS6KB1
29 negative regulation of bicellular tight junction assembly GO:1903347 9.43 ROCK1 ROCK2
30 negative regulation of myosin-light-chain-phosphatase activity GO:0035509 9.4 ROCK1 ROCK2
31 response to angiotensin GO:1990776 9.37 ROCK1 ROCK2
32 neuron projection arborization GO:0140058 9.26 LRRK2 ROCK1
33 response to amino acid GO:0043200 8.96 CFL1 MTOR
34 regulation of angiotensin-activated signaling pathway GO:0110061 8.62 ROCK1 ROCK2
35 negative regulation of apoptotic process GO:0043066 10.04 CFL1 CRYAB PRDX5 RPS27A RPS6KB1

Molecular functions related to Corticobasal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.72 LRRK2 MTOR ROCK1 ROCK2 RPS6KB1
2 protein binding GO:0005515 9.58 CFL1 CRYAB GBA HSPB2 KIF13B LRRK2
3 microtubule binding GO:0008017 9.56 CRYAB KIF13B LRRK2 MAPT
4 protein serine/threonine kinase activity GO:0004674 9.55 LRRK2 MTOR ROCK1 ROCK2 RPS6KB1
5 Rho GTPase binding GO:0017048 9.13 LRRK2 ROCK1 ROCK2

Sources for Corticobasal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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