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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:CADASIL
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Accession:DOID:13945 term browser browse the term
Definition:A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)
Synonyms:exact_synonym: CADASILM;   CASIL;   Dementia, Hereditary Multi Infarct Type;   cerebral arteriopathy with subcortical infarcts and leukoencephalopathy;   cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;   hereditary multi-infarct dementia
 primary_id: MESH:D046589
 alt_id: RDO:0000072
 xref: GARD:1049;   ICD10CM:I67.850;   NCI:C84606;   OMIM:PS125310;   ORDO:136
For additional species annotation, visit the Alliance of Genome Resources.


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CADASIL term browser
Symbol Object Name 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 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 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 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 OMIM:600142
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by term: CARASIL
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 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

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
            CADASIL 1 1
            CADASIL 2 1
            Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
            Familial Vascular Leukoencephalopathy 1
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
            cerebrovascular disease 831
              intracranial arterial disease 246
                intracranial arteriosclerosis 40
                  vascular dementia 40
                    CADASIL 2
                      CADASIL 1 1
                      CADASIL 2 1
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
                      Familial Vascular Leukoencephalopathy 1
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.