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Details
Link-It Detail - Disease - CADASIL
Debug Stats
  • ### Total Build Time: 45 ms 30.522 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 312 bytes
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  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
CADASIL C0751587
Definition (1)
A hereditary cerebrovascular disorder caused by mutations in the Notch 3 gene. It is characterized by alterations of the muscular wall of the small vessels in the brain, resulting in transient ischemic attacks. It may lead to cognitive problems and dementia.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Dementia, Vascular C0011269
img Genetic Diseases, Inborn C0950123
img Cerebral Arterial Diseases C0007774
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Dementia, Vascular C0011269
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Dementia, Vascular C0011269
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076828img Dementia, Vascular C0011269
img Cardiovascular Diseases C0007222img Vascular Diseases C00423737img Dementia, Vascular C0011269
img Cardiovascular Diseases C0007222img Vascular Diseases C00423735img Dementia, Vascular C0011269
img Mental Disorders C0004936img Delirium, Dementia, Amnestic, Cognitive Disorders C00292275img Dementia, Vascular C0011269
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Cerebral Arterial Diseases C0007774
img Cardiovascular Diseases C0007222img Vascular Diseases C00423736img Cerebral Arterial Diseases C0007774
Relationships (48)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 4
diso_​to_​diso : 38
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 13
alias_​of : 1
manifestation_​of : 33
mapped_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN135img genetic aspects C0017399
DISO_to_CHEM77img Notch Proteins C0083792
DISO_to_PHEN67img genetic aspects C0017399
DISO_to_DISO65img Complication Aspects C1171258
DISO_to_ANAT31img Brain C0006104
DISO_to_PHYS31img Mutation C0026882
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_CHEM20img Notch Proteins C0083792
DISO_to_PHYS18img Missense Mutation C0599155
DISO_to_CHEM15img Cell Surface Receptor C0034800
DISO_to_CHEM15img Cellular Proto Oncogene Proteins C0033712
DISO_to_DISO12img Cognition Disorders C0009241
DISO_to_PHYS12img Mutation C0026882
DISO_to_DISOmanifestation_ofimg 9-50 UNSPECIFIED MOOD DISORDERS C0525045
DISO_to_DISOmanifestation_ofimg Abnormal electroretinogram (ERG) C1837719
DISO_to_DISOmanifestation_ofimg Abnormal visual evoked responses (VEP) C1852243
DISO_to_DISOmanifestation_ofimg Acute vision loss due to optic nerve infarction (rare) C3276550
DISO_to_DISOmanifestation_ofimg Adult onset (third decade) C1852246
DISO_to_DISOmanifestation_ofimg Affected arteries have electron-dense granular material close to vascular smooth muscle cell membranes C1852238
DISO_to_DISOmanifestation_ofimg Affected arteries show loss of smooth muscle cells C1852239
DISO_to_DISOmanifestation_ofimg Biopsy shows granular osmiophilic material of variable electron density adjacent to basal membrane of vascular smooth muscle cell C1852244
DISO_to_DISOmanifestation_ofimg Brain syndrome, white matter C0270612
DISO_to_DISOmanifestation_ofimg Bulbar Palsies, Spastic C0033790
DISO_to_DISOalias_ofimg CADASIL C0751587
DISO_to_DISOmanifestation_ofimg Caused by mutations in the homolog of the Drosophila Notch 3 gene (NOTCH3, 600276.0001). C1852245
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanNOTCH34854notch 3
Click here to display 18 evidence detail records.
HumanJAG1182jagged 1
img GENERIF, Score=861, Pubmed Id: 17368936, UMLKSK CUI: C0751587
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751587CADASIL0self