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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:vascular dementia
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Accession:DOID:8725 term browser browse the term
Definition:An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)
Synonyms:exact_synonym: Arteriosclerotic Dementia;   Arteriosclerotic Dementias;   Binswanger Disease;   Binswanger Encephalopathy;   Binswanger's Disease;   Binswanger's Encephalopathy;   Binswangers Disease;   Chronic Progressive Subcortical Encephalopathy;   Encephalopathy, Binswangers;   Multi Infarct Dementia;   Subcortical Arteriosclerotic Encephalopathies;   Subcortical Arteriosclerotic Encephalopathy;   Subcortical Leukoencephalopathies;   Subcortical Leukoencephalopathy;   Subcortical Vascular Dementia;   Subcortical Vascular Dementias;   acute onset vascular dementia;   multifocal dementia;   vascular dementias
 primary_id: MESH:D015140
 alt_id: RDO:0006843
 xref: ICD10CM:F01;   ICD9CM:290.4;   NCI:C34522;   NCI:C34525
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
vascular dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1a ATP synthase F1 subunit alpha ISO RGD PMID:24448401 RGD:14696801 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
JBrowse link
G Avp arginine vasopressin IEP protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:24622829 RGD:10059369 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cdk5 cyclin-dependent kinase 5 treatment IEP RGD PMID:27118553 RGD:13792766 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
G Eif4e eukaryotic translation initiation factor 4E IEP protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 2:243,819,616...243,853,987
Ensembl chr 2:243,820,661...243,852,631
JBrowse link
G Epo erythropoietin IEP RGD PMID:17037738 RGD:10400891 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 treatment IEP RGD PMID:22500404 RGD:10402076 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment IEP RGD PMID:22500404 RGD:10402076 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit susceptibility ISO associated with stroke;DNA:polymorphism:promoter:-588C>T(human) RGD PMID:17548779 RGD:10402374 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24968700 RGD:11352822 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO RGD PMID:25261450 RGD:13792687 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B severity ISO RGD PMID:25261450 RGD:13792687 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:27118553 RGD:13792766 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:polymorphism: :-110A>C(human) RGD PMID:15832029 RGD:10402403 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO
IEP
mRNA,protein:decreased expression:hippocampus: RGD PMID:16181175, PMID:22342912 RGD:1598446, RGD:10045864 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:16983186 RGD:10045873 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:plasma RGD PMID:16600299 RGD:1626633 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:27118553 RGD:13792766 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:16385583 RGD:1582624 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mtor mechanistic target of rapamycin kinase IEP protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
JBrowse link
G Rpgrip1l Rpgrip1-like susceptibility ISO DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Rps6 ribosomal protein S6 treatment IEP RGD PMID:25767501 RGD:11041644 NCBI chr 5:105,197,821...105,200,681
Ensembl chr 5:105,197,857...105,200,148
JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr 1:88,779,476...88,780,425
Ensembl chr 1:90,948,976...90,949,332
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) RGD PMID:16082694 RGD:1581412 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Sst somatostatin IEP protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-850C>T(human) RGD PMID:11273064 RGD:13825254 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tp53 tumor protein p53 IEP protein:increased expression:brain RGD PMID:18083315 RGD:2290557 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:9388399, PMID:10854111, PMID:11102981, PMID:11755616, PMID:12721871, PMID:15229130, PMID:15364702, PMID:16009764, PMID:16730748, PMID:20935329, PMID:25741868, PMID:26467025, PMID:26856460, PMID:28479817, PMID:29188607, PMID:29980472, PMID:30311386, PMID:30402942 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM
ClinVar
PMID:3484396, PMID:8878478, PMID:9388399, PMID:10227618, PMID:10371548, PMID:10712431, PMID:10716263, PMID:10854111, PMID:10969905, PMID:11102981, PMID:11486103, PMID:11559313, PMID:11706120, PMID:11715067, PMID:11755616, PMID:11757773, PMID:11771160, PMID:11784372, PMID:12136071, PMID:12146805, PMID:12196662, PMID:12482954, PMID:12721871, PMID:12754354, PMID:12810003, PMID:12821756, PMID:12821764, PMID:14714274, PMID:15229130, PMID:15287509, PMID:15350543, PMID:15364702, PMID:15378071, PMID:15694192, PMID:15776792, PMID:15834039, PMID:15857853, PMID:15981641, PMID:15995828, PMID:16009764, PMID:16580020, PMID:16717210, PMID:16730748, PMID:16864835, PMID:17122431, PMID:17323840, PMID:17390743, PMID:17879447, PMID:18765654, PMID:18948701, PMID:19006080, PMID:19043263, PMID:19174371, PMID:19180562, PMID:19242647, PMID:19245392, PMID:19252787, PMID:19259619, PMID:19293235, PMID:19359623, PMID:19417009, PMID:19528524, PMID:19542611, PMID:19576955, PMID:19825845, PMID:20038773, PMID:20071773, PMID:20167921, PMID:20301673, PMID:20851625, PMID:20857162, PMID:20935329, PMID:20981092, PMID:21387384, PMID:21555590, PMID:21616505, PMID:21737310, PMID:21852154, PMID:21940951, PMID:22006983, PMID:22019870, PMID:22082899, PMID:22153900, PMID:22159056, PMID:22218279, PMID:22367839, PMID:22373597, PMID:22623959, PMID:22664156, PMID:22795385, PMID:22878905, PMID:22936449, PMID:23025651, PMID:23412372, PMID:23584202, PMID:23602593, PMID:23639391, PMID:23649698, PMID:23844775, PMID:23847153, PMID:24033266, PMID:24086431, PMID:24139282, PMID:24344756, PMID:24425116, PMID:24886907, PMID:24929957, PMID:24936512, PMID:25260786, PMID:25326637, PMID:25344745, PMID:25412914, PMID:25604251, PMID:25623805, PMID:25741868, PMID:25801821, PMID:25819272, PMID:25834748, PMID:25870235, PMID:25929831, PMID:25973016, PMID:25980907, PMID:26002683, PMID:26261665, PMID:26270344, PMID:26308724, PMID:26368811, PMID:26467025, PMID:26646783, PMID:26715087, PMID:26806700, PMID:26850715, PMID:26856460, PMID:26889213, PMID:26894465, PMID:27174004, PMID:27293347, PMID:27350778, PMID:27423596, PMID:27770446, PMID:27844030, PMID:27881154, PMID:27884173, PMID:27890607, PMID:28334938, PMID:28479817, PMID:28492532, PMID:28601945, PMID:28710804, PMID:28991717, PMID:29188607, PMID:29449082, PMID:29980472, PMID:30311053, PMID:30311386, PMID:30402942, PMID:30956055, PMID:31028544, PMID:32581362 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
OMIM
PMID:19387015, PMID:25741868, PMID:26063658, PMID:30981321, PMID:32101834, PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: CARASIL
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by OMIM:600142
OMIM
ClinVar
PMID:11889251, PMID:18316707, PMID:19387015, PMID:21115960, PMID:21482952, PMID:22900900, PMID:23963851, PMID:24500651, PMID:24535794, PMID:25741868, PMID:25770224, PMID:25772074, PMID:25957642, PMID:26063658, PMID:26467025, PMID:27164673, PMID:32101834, PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
Familial Vascular Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Familial vascular leukoencephalopathy ClinVar PMID:9388399, PMID:10854111, PMID:11102981, PMID:11755616, PMID:12721871, PMID:15229130, PMID:15364702, PMID:16009764, PMID:16730748, PMID:20935329, PMID:26467025, PMID:26856460, PMID:28479817, PMID:29188607, PMID:29980472, PMID:30311386, PMID:30402942 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
Multi-Infarct Dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:1677459 RGD:10054257 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:18938189 RGD:10054050 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:18938189 RGD:10054050 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:21279683 RGD:10449132 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Il2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Diseases of the Aged 1249
      dementia 670
        vascular dementia 40
          CADASIL + 2
          Multi-Infarct Dementia 5
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              cognitive disorder 1914
                dementia 670
                  vascular dementia 40
                    CADASIL + 2
                    Multi-Infarct Dementia 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.