Dementia, Lewy Body (DLB) malady

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

Aliases & Classifications for Dementia, Lewy Body

Aliases & Descriptions for Dementia, Lewy Body:

Name: Dementia, Lewy Body 54 24 13
Lewy Body Dementia 54 12 50 24 51 66 14
Lewy Body Disease 12 50 29 52 41 42 69
Diffuse Lewy Body Disease 12 50 24 66
Dementia with Lewy Bodies 12 51 14
Dlb 50 24 66
Autosomal Dominant Diffuse Lewy Body Disease 50 69
Dementia Lewy Body 66 29
Diffuse Lewy Body Disease with Gaze Palsy 66
Lewy Body Variant of Alzheimer Disease 66
Senile Dementia of the Lewy Body Type 12
Lewy Body Type Senile Dementia 66
Dysphasic Dementia Hereditary 66
Cortical Lewy Body Disease 66



dementia, lewy body:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 54 127750
Disease Ontology 12 DOID:12217
ICD10 33 G31.83
ICD9CM 35 331.82
MeSH 42 D020961
NCIt 47 C84826
UMLS 69 C0752347

Summaries for Dementia, Lewy Body

NINDS : 51 Dementia with Lewy bodies (DLB) is one of the most common types of progressive dementia. The central features of DLB include progressive cognitive decline, “fluctuations” in alertness and attention, visual hallucinations, and parkinsonian motor symptoms, such as slowness of movement, difficulty walking, or rigidity.  People may also suffer from depression.  The symptoms of DLB are caused by the build-up of Lewy bodies – accumulated bits of alpha-synuclein protein -- inside the nuclei of neurons in areas of the brain that control particular aspects of memory and motor control.  Researchers don’t know exactly why alpha-synuclein accumulates into Lewy bodies or how Lewy bodies cause the symptoms of DLB, but they do know that alpha-synuclein accumulation is also linked to Parkinson's disease, multiple system atrophy, and several other disorders, which are referred to as the "synucleinopathies." The similarity of symptoms between DLB and Parkinson’s disease, and between DLB and Alzheimer’s disease, can often make it difficult for a doctor to make a definitive diagnosis. In addition, Lewy bodies are often also found in the brains of people with Parkinson's and Alzheimer’s diseases.  These findings suggest that either DLB is related to these other causes of dementia or that an individual can have both diseases at the same time.  DLB usually occurs sporadically, in people with no known family history of the disease. However, rare familial cases have occasionally been reported.

MalaCards based summary : Dementia, Lewy Body, also known as lewy body dementia, is related to dementia and corticobasal degeneration, and has symptoms including dementia, parkinsonism and visual hallucinations. An important gene associated with Dementia, Lewy Body is SNCA (Synuclein Alpha), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Circadian entrainment. The drugs Armodafinil and Modafinil have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.

NIH Rare Diseases : 50 lewy body dementia is one of the most common forms of progressive dementia. people affected by this condition may experience a variety of symptoms such as changes in alertness and attention; hallucinations; problems with movement and posture; muscle stiffness; confusion; and/or memory loss. although the exact cause of lewy body dementia is poorly understood, symptoms are thought to result when clumps of a protein called alpha-synuclein ("lewy bodies") accumulate in the brain. lewy body dementia usually occurs sporadically in people with no family history of the condition. rarely, more than one family member may be affected. there is currently no cure for lewy body dementia; however, medications may be available to help manage the associated symptoms. last updated: 11/5/2015

OMIM : 54 Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism,... (127750) more...

MedlinePlus : 41 lewy body disease is one of the most common causes of dementia in the elderly. dementia is the loss of mental functions severe enough to affect normal activities and relationships. lewy body disease happens when abnormal structures, called lewy bodies, build up in areas of the brain. the disease may cause a wide range of symptoms, including changes in alertness and attention hallucinations problems with movement and posture muscle stiffness confusion loss of memory lewy body disease can be hard to diagnose, because parkinson's disease and alzheimer's disease cause similar symptoms. scientists think that lewy body disease might be related to these diseases, or that they sometimes happen together. lewy body disease usually begins between the ages of 50 and 85. the disease gets worse over time. there is no cure. treatment focuses on drugs to help symptoms. nih: national institute of neurological disorders and stroke

UniProtKB/Swiss-Prot : 66 Dementia Lewy body: A neurodegenerative disorder characterized by mental impairment leading to dementia, parkinsonism, fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Brainstem or cortical intraneuronal accumulations of aggregated proteins (Lewy bodies) are the only essential pathologic features. Patients may also have hippocampal and neocortical senile plaques, sometimes in sufficient number to fulfill the diagnostic criteria for Alzheimer disease.

Wikipedia : 71 Dementia with Lewy bodies (DLB) is a type of dementia that worsens over time. Additional symptoms may... more...

Related Diseases for Dementia, Lewy Body

Diseases related to Dementia, Lewy Body via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
id Related Disease Score Top Affiliating Genes
1 dementia 11.3
2 corticobasal degeneration 11.3
3 keratosis palmoplantaris striata 10.3 APOE MAPT
4 transient neonatal myasthenia gravis 10.3 GBA LRRK2 SNCA
5 juvenile amyotrophic lateral sclerosis with dementia 10.3 APP MAPT SNCA
6 ceroid lipofuscinosis, neuronal, 1 10.3 LRRK2 PARK7 SNCA
7 lethal congenital contracture syndrome 8 10.3 LRRK2 PARK7 SNCA
8 trichothiodystrophy 3, photosensitive 10.3 LRRK2 PARK7 SNCA
9 atrial septal defect 9 10.3 APP MAPT SNCA
10 scrotum basal cell carcinoma 10.3 MAPT PRNP SLC6A3
11 thyrotropin-releasing hormone deficiency 10.3 LRRK2 SLC6A3 SNCA
12 cyprus facial neuromusculoskeletal syndrome 10.3 MAPT RPS27A SNCA
13 thrombosis 10.2 GBA LRRK2 PARK7 SNCA
14 pulmonary systemic sclerosis 10.2 ADAMTS2 APOE MAPT
15 homocystinuria caused by cystathionine beta-synthase deficiency 10.2 APOE PRNP
16 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 10.2 LRRK2 PARK7 SNCA TH
17 meckel syndrome 10 10.2 APOE APP BCHE MAPT
18 bone dysplasia azouz type 10.2 ACHE APOE APP MAPT
19 benign partial epilepsy with secondarily generalized seizures in infancy 10.2 GBA LRRK2 MAPT SLC6A3 SNCA
20 syringocystadenoma papilliferum 10.2 APOE APP PRNP
21 vaginal spindle cell epithelioma 10.2 APP MAPT PRNP
22 postauricular lymphadenitis 10.2 BCHE MAPT TARDBP
23 nephrogenic adenoma of the urethra 10.2 MAOB SLC18A2 SLC6A3 SNCA
24 spink1-related hereditary pancreatitis 10.2 LRRK2 MAPT PARK7 SNCA SNCAIP
25 pythiosis 10.2 ACHE MAOB SNCA TH
26 plekhm1-related autosomal recessive osteopetrosis 10.2 GBA LRRK2 MAPT PARK7 SNCA
27 deafness, autosomal recessive 101 10.2 MAPT PRNP RPS27A SNCA
28 hard palate cancer 10.2 APOE APP PRNP SNCA
29 fancf-related fanconi anemia 10.2 APOE PRNP
30 proteus syndrome, somatic 10.2 RPS27A SLC6A3 SNCA
31 adult mesenchymal chondrosarcoma 10.2 ACHE MAPT TARDBP
32 andersen syndrome 10.2 MAPT RPS27A TARDBP
33 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.2 APOE APP PRNP
34 severe congenital nemaline myopathy 10.1 APOE MAPT RPS27A TARDBP
35 craniofacial and skeletal defects 10.1 GBA MAPT RPS27A TARDBP
36 multiple system atrophy 10.1 MAOB PARK7 SLC18A2 SNCA SNCAIP
37 lower gum cancer 10.1 ACHE LRRK2 RPS27A SLC6A3 SNCA
38 prion disease with protracted course 10.1 APOE MAPT PRNP
39 pancreatic solid pseudopapillary carcinoma 10.1 ADAMTS2 MAPT TARDBP
40 riedel's fibrosing thyroiditis 10.1 LRRK2 MAOB MAPT SNCA TARDBP
41 chronic conjunctivitis 10.1 CYP2D6 MAOB SLC18A2 SLC6A3
42 acne inversa, familial, 3 10.1 APOE MAPT RPS27A SNCA TARDBP
43 preeclampsia/eclampsia 5 10.1 MAOB SLC18A2 SLC6A3 SNCA
44 acrofrontofacionasal dysostosis 10.1 ACHE BCHE MAPT PRNP TARDBP
45 allergic bronchopulmonary aspergillosis, familial 10.1 APOE APP MAPT RPS27A TARDBP
46 angina pectoris 10.1 APOE MAPT TARDBP
47 ellis-van creveld syndrome 10.1 CYP2D6 MAOB SLC18A2 SLC6A3 TH
48 mitochondrial dna depletion syndrome 3 10.1 MAPT SLC18A2 SLC6A3 SNCA TARDBP TH
49 contagious pustular dermatitis 10.0 ACHE APOE APP BCHE MAPT PRNP
50 autoimmune disease of urogenital tract 10.0 APOE LRRK2 MAPT PRNP SNCA TARDBP

Graphical network of the top 20 diseases related to Dementia, Lewy Body:

Diseases related to Dementia, Lewy Body

Symptoms & Phenotypes for Dementia, Lewy Body

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Dementia, Lewy Body:

id Description HPO Frequency HPO Source Accession
1 dementia 32 HP:0000726
2 parkinsonism 32 HP:0001300
3 visual hallucinations 32 HP:0002367
4 fluctuations in consciousness 32 HP:0007159
5 delusions 32 HP:0000746

UMLS symptoms related to Dementia, Lewy Body:

back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, hallucinations, visual, vertigo/dizziness, sleeplessness

MGI Mouse Phenotypes related to Dementia, Lewy Body:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 ACHE APOE APP GBA LRRK2 MAOB
2 homeostasis/metabolism MP:0005376 10.36 MAOB MAPT PARK7 PRNP SLC18A2 SLC6A3
3 growth/size/body region MP:0005378 10.32 ADAMTS2 APOE APP GBA MAPT PARK7
4 cellular MP:0005384 10.31 SNCA TARDBP TH APOE APP GBA
5 mortality/aging MP:0010768 10.25 ACHE APOE APP BCHE GBA MAPT
6 nervous system MP:0003631 10.2 ACHE APOE APP GBA LRRK2 MAOB
7 integument MP:0010771 10.13 ADAMTS2 APOE APP GBA LRRK2 MAPT
8 muscle MP:0005369 9.97 ACHE APOE APP MAPT PRNP SLC18A2
9 no phenotypic analysis MP:0003012 9.96 MAPT PRNP SNCA SNCB TARDBP TH
10 normal MP:0002873 9.85 ADAMTS2 APP GBA LRRK2 MAPT PRNP
11 skeleton MP:0005390 9.61 ADAMTS2 APOE GBA LRRK2 PRNP SLC6A3
12 taste/olfaction MP:0005394 9.02 APOE MAPT SLC18A2 SLC6A3 SNCA

Drugs & Therapeutics for Dementia, Lewy Body

Drugs for Dementia, Lewy Body (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Armodafinil Approved, Investigational Phase 4 112111-43-0
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
Acetaminophen Approved Phase 4 103-90-2 1983
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
8 Central Nervous System Stimulants Phase 4
9 Cytochrome P-450 CYP3A Inducers Phase 4
10 Wakefulness-Promoting Agents Phase 4
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Central Nervous System Depressants Phase 4
13 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2
15 Nootropic Agents Phase 4,Phase 3,Phase 2
16 Antiparkinson Agents Phase 4,Phase 2
17 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Excitatory Amino Acid Antagonists Phase 4,Phase 2
19 Excitatory Amino Acids Phase 4,Phase 2
20 Analgesics Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Analgesics, Opioid Phase 4
23 Antipyretics Phase 4
24 Narcotic Antagonists Phase 4
25 Narcotics Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 3
27 Dopamine agonists Phase 4,Phase 2,Phase 3,Phase 1
28 Pharmaceutical Solutions Phase 4
29 N 0437 Phase 4
30 cadexomer iodine Phase 4
Iodine Phase 4 7553-56-2 807
32 Anti-Inflammatory Agents Phase 4
Corticosterone Phase 4 50-22-6 5753
34 Fluorodeoxyglucose F18 Phase 4
35 Calamus Nutraceutical Phase 4
Galantamine Approved Phase 3 357-70-0 9651 908828, 9651
37 Protective Agents Phase 3
38 Autonomic Agents Phase 3
Acetylcholine Approved Phase 1 51-84-3 187
Benzocaine Approved 1994-09-7, 94-09-7 2337
Rivastigmine Approved, Investigational 123441-03-2 77991
Acetylcysteine Approved, Investigational 616-91-1 12035
Dextromethorphan Approved 125-71-3 5360696 5362449
Quinidine Approved 56-54-2 441074
Menthol Approved 2216-51-5 16666
Lidocaine Approved, Vet_approved 137-58-6 3676
Ethanol Approved 64-17-5 702
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
49 tannic acid Approved, Nutraceutical
50 Antioxidants

Interventional clinical trials:

(show top 50) (show all 100)
id Name Status NCT ID Phase
1 "Pilot Study of Armodafinil in Patients With Dementia With Lewy Bodies" Completed NCT01023672 Phase 4
2 Memantine Versus Placebo in Parkinson's Disease Dementia or Dementia With Lewy Bodies Completed NCT00855686 Phase 4
3 Efficacy of Pain Treatment on Depression in Patients With Dementia Completed NCT02267057 Phase 4
4 A Post-Marketing Clinical Study of Aricept in Patients With Dementia With Lewy Bodies (DLB) Recruiting NCT02345213 Phase 4
5 Rotigotine Effect on Nocturnal Hypokinesia Compares to Placebo Control: A Quantitative Assessment by Wearable Sensors Active, not recruiting NCT03098368 Phase 4
6 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4
7 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4
8 Evaluating the Effects of Music Interventions on Hospitalised People With Dementia Unknown status NCT00448318 Phase 2, Phase 3
9 Donepezil Treatment of Psychotic Symptoms in Dementia Patients Unknown status NCT00190021 Phase 3
10 Safety and Efficacy of Galantamine in Patients With Dementia With Lewy Bodies Completed NCT00230997 Phase 3
11 A Study of E2020 in Patients With Dementia With Lewy Bodies (DLB), Followed by a Long-term Extension Phase Completed NCT01278407 Phase 3
12 Oculomotor Testing in the Differential Diagnosis of Dementia Completed NCT01577394 Phase 3
13 Dopamine Transporter Scintigraphy Imaging (DAT-Imaging) in Patients With Lewy Body Dementia Completed NCT00209456 Phase 3
14 A Trial of 18F-AV-133 Positron Emission Tomography (PET) Imaging to Differentiate Subjects With Parkinson's Disease (PD) From Other Movement Disorders Completed NCT01550484 Phase 2, Phase 3
15 Long-Term Extension Study of Intepirdine (RVT-101) in Subjects With Dementia With Lewy Bodies: HEADWAY-DLB Extension Enrolling by invitation NCT02928445 Phase 2, Phase 3
16 A Long-term, Extension Study of E2020 in Patients With Dementia With Lewy Bodies Completed NCT00598650 Phase 2
17 A Double-blind Study of E2020 (Donepezil Hydrochloride) in Patients With Dementia With Lewy Bodies (DLB) (Study E2020-J081-431) Completed NCT00543855 Phase 2
18 Efficacy and Safety of Memantine for Parkinson's Disease Dementia (PDD) and Dementia With Lewy Bodies (DLB) Completed NCT00630500 Phase 2
19 A Trial of 18F-AV-133 and 18F-AV-45 Positron Emission Tomography (PET) Completed NCT01503944 Phase 1, Phase 2
20 Efficacy of 1072nm Infrared Stimulation on Executive Functioning in Dementia Completed NCT01059877 Phase 1, Phase 2
21 Imaging Inflammation in Patients With Parkinson's Disease Dementia or Dementia With Lewy Bodies Recruiting NCT02702102 Phase 2
22 Study Evaluating Nelotanserin for Treatment of Visual Hallucinations in Subjects With Lewy Body Dementia Recruiting NCT02640729 Phase 2
23 Study Evaluating Nelotanserin for Treatment of REM Sleep Behavior Disorder in Subjects With Dementia (DLB or PDD) Recruiting NCT02708186 Phase 2
24 Study Evaluating Intepirdine (RVT-101) on Gait and Balance in Subjects With Dementia Recruiting NCT02910102 Phase 2
25 Effect of Donepezil on Cognition in Parkinson's Disease With Mild Cognitive Impairment (PD-MCI) Recruiting NCT02450786 Phase 2
26 Impact of Nilotinib on Safety, Tolerability, Pharmacokinetics and Biomarkers in Parkinson's Disease Recruiting NCT02954978 Phase 2
27 Study Evaluating Intepirdine (RVT-101) in Subjects With Dementia With Lewy Bodies: The HEADWAY-DLB Study Active, not recruiting NCT02669433 Phase 2
28 Open-label Study of Nelotanserin in Lewy Body Dementia With Visual Hallucinations or REM Sleep Behavior Disorder Enrolling by invitation NCT02871427 Phase 2
29 Far Infrared Irradiation for Management and Treating of Parkinson's Disease (PD) Unknown status NCT00674895 Phase 1
30 Nilotinib in Cognitively Impaired Parkinson Disease Patients 001 Completed NCT02281474 Phase 1
31 Quantification of Cerebral Cholinergic Function in Parkinson´s Disease by Means of Nuclear Medicine Methods Completed NCT01003535 Phase 1
32 Effects of Nucleus Basalis of Meynert Stimulation on Cognitive Disorders in Dementia With Lewy Bodies Recruiting NCT01340001 Phase 1
33 Alpha-synuclein in Cerebrospinal Fluid to Differentiate Alzheimer's Disease From Lewy Body Disease. Unknown status NCT01876459
34 Attention Modulation for Treatment of Parkinson's Disease and Dementia With Lewy Bodies Unknown status NCT01256905
35 Construction-LBD (Constructional Apraxia in Alzheimer's Disease (AD) and Lewy Body's Dementia (LBD)) Unknown status NCT01993628
36 The Sunnybrook Dementia Study: Mapping Brain Changes in Alzheimer's, Vascular and Other Dementias Unknown status NCT01800214
37 Study of MRI 3Tesla Infusion Without Arterial Spin Labeling Injection (ASL) in Cognitive Atypical and Comparison to the FDG-PET Unknown status NCT02058043
38 Glucose Tolerance in Patients With an Idiopathic Parkinson's Disease Unknown status NCT01114321
39 Melatonin for Circadian Sleep Disorders in the Blind Unknown status NCT00911053
40 Blind Adult Melatonin Treatment Study Unknown status NCT00686907
41 Melatonin Studies of Totally Blind Children Unknown status NCT00795236
42 Blind Child Melatonin Treatment Study Unknown status NCT00691444
43 A Genetic and Perfusion Study of Response to Cognitive Enhancers in Lewy Body Disease Completed NCT01944436
44 Imaging of Vesicular Acetylcholine and Dopamine Transporters in Dementia With Lewy Bodies Completed NCT00917709
45 Treadmill Walking in Individuals With Dementia With Lewy Bodies and Huntington's Disease Completed NCT02268617
46 Diagnostic of Lewy Body Dementia by Combining Scintigraphy (SPECT) Using a Specific Transporter and Magnetic Resonance Imaging (MRI) Completed NCT00820937
47 Deep Brain Stimulation for Patients With Dementia With Lewy Bodies Completed NCT02263937
48 Donepezil Therapy and Changes of Symptoms and Glucose Metabolism in Patients With Dementia With Lewy Bodies (DLB) Completed NCT00776347
49 Research of Biomarkers in Parkinson Disease Completed NCT00465790 Early Phase 1
50 Systematic Care for Informal Caregivers of Dementia Patients: An Efficient Approach? Completed NCT00147693

Search NIH Clinical Center for Dementia, Lewy Body

Cochrane evidence based reviews: lewy body disease

Genetic Tests for Dementia, Lewy Body

Genetic tests related to Dementia, Lewy Body:

id Genetic test Affiliating Genes
1 Lewy Body Dementia 29
2 Lewy Bodies 29
3 Dementia, Lewy Body 24 SNCA

Anatomical Context for Dementia, Lewy Body

MalaCards organs/tissues related to Dementia, Lewy Body:


Publications for Dementia, Lewy Body

Articles related to Dementia, Lewy Body:

id Title Authors Year
The effects of behavioral and psychological symptoms on caregiver burden in frontotemporal dementia, Lewy body dementia, and Alzheimer's disease: clinical experience in China. ( 26882509 )
Cognitive fluctuations in connection to dysgraphia: a comparison of Alzheimer's disease with dementia Lewy bodies. ( 25848239 )
Parkinson's disease with dementia, lewy-body disorders and alpha-synuclein: recent advances and a case report. ( 21560084 )

Variations for Dementia, Lewy Body

UniProtKB/Swiss-Prot genetic disease variations for Dementia, Lewy Body:

id Symbol AA change Variation ID SNP ID
1 SNCA p.Glu46Lys VAR_022703 rs104893875

ClinVar genetic disease variations for Dementia, Lewy Body:

id Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
2 SNCB NM_001001502.2(SNCB): c.208G> A (p.Val70Met) single nucleotide variant Pathogenic rs104893936 GRCh37 Chromosome 5, 176053473: 176053473
3 SNCB NM_001001502.2(SNCB): c.368C> A (p.Pro123His) single nucleotide variant Pathogenic rs104893937 GRCh37 Chromosome 5, 176048219: 176048219
4 SNCA NM_000345.3(SNCA): c.136G> A (p.Glu46Lys) single nucleotide variant Pathogenic rs104893875 GRCh37 Chromosome 4, 90749321: 90749321
5 SNCA SNCA, DUPLICATION duplication Pathogenic

Expression for Dementia, Lewy Body

Search GEO for disease gene expression data for Dementia, Lewy Body.

Pathways for Dementia, Lewy Body

Pathways related to Dementia, Lewy Body according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
5 11.76 APP CYP2D6 MAOB SLC18A2
Show member pathways
11.29 ACHE SLC6A3 TH
10 11.2 ACHE APOE CYP2D6
11 11.02 SLC18A2 SLC6A3 TH
Show member pathways
14 10.69 MAOB TH
15 10.62 ACHE TH

GO Terms for Dementia, Lewy Body

Cellular components related to Dementia, Lewy Body according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.92 ACHE APP LRRK2 SNCA SNCB
2 dendrite GO:0030425 9.89 APOE LRRK2 MAPT PRNP TH
3 neuron projection GO:0043005 9.85 APP LRRK2 PARK7 SLC6A3 TH
4 membrane raft GO:0045121 9.77 APP LRRK2 PARK7 PRNP SLC6A3
5 growth cone GO:0030426 9.73 APP LRRK2 MAPT SNCA
6 neuronal cell body GO:0043025 9.7 APOE LRRK2 MAPT SLC6A3 SNCA SNCAIP
7 postsynapse GO:0098794 9.65 LRRK2 PRNP SNCA
8 synaptic vesicle GO:0008021 9.65 LRRK2 SLC18A2 SNCA SNCAIP TH
9 terminal bouton GO:0043195 9.62 APP LRRK2 SNCA TH
10 nuclear envelope lumen GO:0005641 9.51 APP BCHE
11 axon GO:0030424 9.5 APP LRRK2 MAPT PARK7 SLC6A3 SNCA
12 inclusion body GO:0016234 8.92 LRRK2 PRNP SNCA SNCB
13 extracellular space GO:0005615 10.06 ACHE ADAMTS2 APOE APP BCHE GBA

Biological processes related to Dementia, Lewy Body according to GeneCards Suite gene sharing:

(show all 42)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 BCHE MAOB SLC6A3 SNCA TH
2 cellular response to oxidative stress GO:0034599 9.85 LRRK2 PARK7 SNCA
3 mitochondrion organization GO:0007005 9.85 GBA LRRK2 PARK7
4 cellular protein metabolic process GO:0044267 9.85 APOE APP RPS27A SNCA SNCAIP
5 negative regulation of neuron apoptotic process GO:0043524 9.83 APOE PARK7 SNCA SNCB
6 response to oxidative stress GO:0006979 9.81 APOE APP LRRK2 PRNP
7 locomotory behavior GO:0007626 9.78 APP SLC18A2 SLC6A3 TH
8 adult locomotory behavior GO:0008344 9.76 APP PARK7 SNCA
9 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 LRRK2 PARK7
10 regulation of neurotransmitter secretion GO:0046928 9.68 SNCA SNCAIP
11 response to corticosterone GO:0051412 9.68 MAOB TH
12 cellular copper ion homeostasis GO:0006878 9.68 APP PRNP
13 microglial cell activation GO:0001774 9.68 MAPT SNCA
14 supramolecular fiber organization GO:0097435 9.67 MAPT SNCA
15 cellular response to copper ion GO:0071280 9.66 PRNP SNCA
16 negative regulation of protein processing GO:0010955 9.66 LRRK2 PRNP
17 virion assembly GO:0019068 9.65 APOE RPS27A
18 neurotransmitter catabolic process GO:0042135 9.65 ACHE MAOB
19 amyloid precursor protein metabolic process GO:0042982 9.65 ACHE APOE
20 positive regulation of protein metabolic process GO:0051247 9.64 APP GBA
21 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.64 LRRK2 PARK7
22 monoamine transport GO:0015844 9.63 SLC18A2 SLC6A3
23 dopamine catabolic process GO:0042420 9.63 MAOB SLC6A3
24 mating behavior GO:0007617 9.62 APP TH
25 intracellular distribution of mitochondria GO:0048312 9.62 LRRK2 MAPT
26 regulation of locomotion GO:0040012 9.61 LRRK2 SNCA
27 amyloid fibril formation GO:1990000 9.61 APP MAPT
28 synaptic transmission, dopaminergic GO:0001963 9.61 PARK7 SNCA TH
29 regulation of mitochondrial fission GO:0090140 9.6 LRRK2 MAPT
30 dopamine transport GO:0015872 9.59 SLC18A2 SLC6A3
31 negative regulation of cellular protein metabolic process GO:0032269 9.58 APOE GBA
32 neurotransmitter biosynthetic process GO:0042136 9.58 ACHE SLC6A3 TH
33 cellular response to manganese ion GO:0071287 9.57 LRRK2 TH
34 synapse organization GO:0050808 9.56 APP MAPT SNCA SNCB
35 negative regulation of long-term synaptic potentiation GO:1900272 9.55 APOE PRNP
36 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.54 SLC18A2 TH
37 dopamine metabolic process GO:0042417 9.54 SNCA SNCAIP SNCB
38 dopamine biosynthetic process GO:0042416 9.5 SLC6A3 SNCA TH
39 isoquinoline alkaloid metabolic process GO:0033076 9.49 CYP2D6 TH
40 negative regulation of protein phosphorylation GO:0001933 9.35 LRRK2 PARK7 PRNP SNCA TARDBP
41 dopamine uptake involved in synaptic transmission GO:0051583 9.33 PARK7 SLC6A3 SNCA
42 negative regulation of neuron death GO:1901215 9.02 APOE GBA LRRK2 PARK7 SNCA

Molecular functions related to Dementia, Lewy Body according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.99 ACHE APOE LRRK2 MAOB MAPT PARK7
2 microtubule binding GO:0008017 9.83 LRRK2 MAPT PRNP SNCA
3 enzyme binding GO:0019899 9.73 APP BCHE MAPT PARK7 SNCA TH
4 copper ion binding GO:0005507 9.65 PARK7 PRNP SNCA
5 identical protein binding GO:0042802 9.65 APOE APP BCHE LRRK2 MAPT PARK7
6 tubulin binding GO:0015631 9.61 LRRK2 MAPT PRNP
7 dopamine binding GO:0035240 9.55 SLC6A3 TH
8 tau protein binding GO:0048156 9.54 APOE SNCA
9 monoamine transmembrane transporter activity GO:0008504 9.49 SLC18A2 SLC6A3
10 lipoprotein particle binding GO:0071813 9.46 APOE MAPT
11 beta-amyloid binding GO:0001540 9.46 ACHE APOE BCHE PRNP
12 cholinesterase activity GO:0004104 9.4 ACHE BCHE
13 cupric ion binding GO:1903135 9.37 PARK7 PRNP
14 acetylcholinesterase activity GO:0003990 9.32 ACHE BCHE
15 cuprous ion binding GO:1903136 8.92 PARK7 PRNP SNCA SNCB

Sources for Dementia, Lewy Body

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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