Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Lewy body dementia
go back to main search page
Accession:DOID:12217 term browser browse the term
Definition:A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER'S DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)
Synonyms:exact_synonym: DLB;   Dementia with Lewy bodies;   Diffuse Lewy Body Disease;   Lewy Body Type Senile Dementia;   Lewy body disease;   cortical Lewy body disease;   senile dementia of the Lewy body type
 narrow_synonym: DIFFUSE LEWY BODY DISEASE DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY;   LEWY BODY VARIANT OF ALZHEIMER DISEASE;   LEWY BODY VARIANT OF ALZHEIMER'S DISEASE
 primary_id: MESH:D020961
 alt_id: OMIM:127750;   RDO:0004559
 xref: GARD:3243;   ICD10CM:G31.83;   ICD9CM:331.82;   NCI:C84826
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Lewy body dementia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: plasma RGD PMID:23576984 RGD:10053729 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Becn1 beclin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628769 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,287,875...1,304,822
Ensembl chr  X:1,297,099...1,304,822
JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
Ensembl chr 9:157,285,179...157,294,047
JBrowse link
G Gba glucosylceramidase beta ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Lewy body dementia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse Lewy body disease
ClinVar Annotator: match by term: Lewy Body Disease
DNA:missense mutations, frameshift mutation:cds:multiple (human)
ClinVar
CTD
OMIM
PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2502917 PMID:2508065 PMID:2569551 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7916532 PMID:8118463 PMID:8213821 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:9040001 PMID:9153297 PMID:9240741 PMID:9279145 PMID:9554746 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11359469 PMID:11783951 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12595585 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14757438 PMID:15146461 PMID:16061944 PMID:16199547 PMID:16293621 PMID:17059888 PMID:17395504 PMID:17427031 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19846850 PMID:20629126 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20947659 PMID:20980259 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21704274 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22375149 PMID:22451204 PMID:22592100 PMID:22803570 PMID:22968580 PMID:23430543 PMID:23430873 PMID:23588557 PMID:23676350 PMID:23699752 PMID:24022302 PMID:24033266 PMID:24126159 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25127542 PMID:25249066 PMID:25435509 PMID:25456120 PMID:25558695 PMID:25653295 PMID:25741868 PMID:25933391 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26868973 PMID:26905200 PMID:27123476 PMID:27271787 PMID:27312774 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27872820 PMID:28492532 PMID:28779532 PMID:28923368 PMID:28947706 PMID:29091352 PMID:29527153 PMID:30764785 PMID:33223529 PMID:33589841 PMID:84325327, PMID:20971030, PMID:25933391 RGD:5508424, RGD:12791014 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:51,822,163...51,844,228
Ensembl chr 4:51,822,153...51,844,331
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA:altered expression:brain:
CTD Direct Evidence: marker/mechanism
CTD PMID:19276553, PMID:19276553 RGD:5129515 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism
CTD PMID:19276553, PMID:19276553 RGD:5129515 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:99,762,195...99,769,486
Ensembl chr 1:99,762,253...99,769,488
JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862, PMID:20024519 RGD:6483091 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621, PMID:29391125 RGD:127284889, RGD:127285384 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:10674474 RGD:1358529 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: RGD PMID:20665591 RGD:10448971 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:17467279 RGD:10412737 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr10:74,860,068...74,884,196
Ensembl chr10:74,861,714...74,884,196
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Lewy Body Disease
ClinVar Annotator: match by term: Lewy body dementia
protein:decreased expression:cerebral spinal fluid:
CTD Direct Evidence: marker/mechanism
protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid
ClinVar
CTD
OMIM
PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 PMID:11261505 PMID:14593171 PMID:14755719 PMID:14755720 PMID:15451224 PMID:15451225 PMID:15498564 PMID:15632170 PMID:16141792 PMID:16358335 PMID:17251522 PMID:17489854 PMID:17625105 PMID:18195271 PMID:18413475 PMID:18704525 PMID:18852445 PMID:18852448 PMID:18852449 PMID:19139307 PMID:19628769 PMID:19632874 PMID:19833540 PMID:20340137 PMID:23427326 PMID:23457019 PMID:23674501 PMID:23880019 PMID:24047453 PMID:24552873 PMID:24752924 PMID:24936070 PMID:25003242 PMID:26341711 PMID:28492532 PMID:29398121 PMID:30528390, PMID:20697047, PMID:18625222, PMID:11733371, PMID:10557341, PMID:18577885 RGD:6478704, RGD:13506723, RGD:6480103, RGD:6480095, RGD:6478792 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO DNA:mutations:cds:p.V70M, P123H (human)
ClinVar Annotator: match by OMIM:127750
protein:increased expression:hippocampus
ClinVar
OMIM
PMID:15365127, PMID:15365127, PMID:10557341, PMID:15483670 RGD:6219004, RGD:6480095, RGD:6478800 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid
RGD PMID:20697047, PMID:10557341, PMID:18577885 RGD:6478704, RGD:6480095, RGD:6478792 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20669025 RGD:5687180 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
Autosomal Dominant Diffuse Lewy Body Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 PMID:2309702 PMID:2569551 PMID:3353383 PMID:7789963 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:9554746 PMID:10796875 PMID:12482401 PMID:14757438 PMID:15146461 PMID:16293621 PMID:17395504 PMID:17427031 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20947659 PMID:20980259 PMID:21431620 PMID:21472771 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22968580 PMID:23676350 PMID:24022302 PMID:24033266 PMID:24756352 PMID:25249066 PMID:25456120 PMID:25653295 PMID:25741868 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27872820 PMID:28492532 PMID:28779532 PMID:28923368 PMID:29527153 PMID:33223529 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 PMID:11261505 PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17489854 PMID:17625105 PMID:18195271 PMID:18704525 PMID:18852445 PMID:18852448 PMID:18852449 PMID:19632874 PMID:20340137 PMID:23427326 PMID:23457019 PMID:24047453 PMID:24936070 PMID:26341711 PMID:28492532 PMID:29398121 PMID:30528390 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
Parkinson's disease 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha ISO OMIM NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Diseases of the Aged 1288
      dementia 711
        Lewy body dementia 38
          Autosomal Dominant Diffuse Lewy Body Disease 2
          Diffuse Lewy Body Disease with Gaze Palsy 0
          Parkinson's disease 4 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              cognitive disorder 1949
                dementia 711
                  Lewy body dementia 38
                    Autosomal Dominant Diffuse Lewy Body Disease 2
                    Diffuse Lewy Body Disease with Gaze Palsy 0
                    Parkinson's disease 4 1
paths to the root