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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 chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326
JBrowse link
G AVP arginine vasopressin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr20:3,169,094...3,172,900 JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:24622829 RGD:10059369 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G CDK5 cyclin dependent kinase 5 treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
JBrowse link
G EIF4E eukaryotic translation initiation factor 4E ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 4:91,268,463...91,329,800 JBrowse link
G EPO erythropoietin ISO RGD PMID:17037738 RGD:10400891 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr13:9,584,850...9,779,542 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 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24968700 RGD:11352822 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO RGD PMID:25261450 RGD:13792687 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B severity ISO RGD PMID:25261450 RGD:13792687 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A ISO DNA:polymorphism: :-110A>C(human) RGD PMID:15832029 RGD:10402403 NCBI chr 6:31,476,710...31,491,411 JBrowse link
G IGF1 insulin like growth factor 1 severity ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16181175, PMID:22342912 RGD:10045864, RGD:1598446 NCBI chr12:99,986,887...100,066,773 JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:16983186 RGD:10045873 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:plasma RGD PMID:16600299 RGD:1626633 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16385583 RGD:1582624 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
JBrowse link
G RPGRIP1L RPGRIP1 like susceptibility ISO DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
JBrowse link
G RPS6 ribosomal protein S6 treatment ISO RGD PMID:25767501 RGD:11041644 NCBI chr 9:19,185,455...19,189,504
Ensembl chr 9:19,674,380...19,677,722
JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr19:32,911,720...32,912,893
Ensembl chr19:41,660,221...41,660,568
JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
JBrowse link
G SNCG synuclein gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr10:83,383,566...83,391,064 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 chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
JBrowse link
G SST somatostatin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-850C>T(human) RGD PMID:11273064 RGD:13825254 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:brain RGD PMID:18083315 RGD:2290557 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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 chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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 OMIM NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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 OMIM NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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 ARMS2 age-related maculopathy susceptibility 2 ISO ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ClinVar PMID:18316707, PMID:26467025 NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551
JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO OMIM NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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 chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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 chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21279683 RGD:10449132 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G IL2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    Diseases of the Aged 992
      dementia 619
        vascular dementia 39
          CADASIL + 3
          Multi-Infarct Dementia 5
Path 2
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      nervous system disease 10042
        central nervous system disease 8491
          brain disease 7869
            disease of mental health 5759
              cognitive disorder 1730
                dementia 619
                  vascular dementia 39
                    CADASIL + 3
                    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.