cadasil |
Disease ID | 238 |
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Disease | cadasil |
Definition | 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. |
Synonym | cadasil [disease/finding] cadasil syndrome cadasil1 casil cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) dementia, hereditary multi infarct type dementia, hereditary multi-infarct type |
Orphanet | |
OMIM | |
DOID | |
UMLS | C0751587 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0020538 | hypertension | 4 C0497327 | dementia | 3 C0852949 | arteriopathy | 3 C0149931 | migraine | 2 C0005586 | bipolar disorder | 1 C0002395 | alzheimer's disease | 1 C0028754 | obesity | 1 C0022116 | ischemia | 1 C0038220 | status epilepticus | 1 C0002395 | alzheimer disease | 1 C0011269 | vascular dementia | 1 C0679466 | cognitive deficits | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:61) 1634 | DCN | DISEASES 10683 | DLL3 | DISEASES 23581 | CASP14 | DISEASES 7448 | VTN | DISEASES 63923 | TNN | DISEASES 348 | APOE | DISEASES 314 | AOC2 | DISEASES 182 | JAG1 | DISEASES 4853 | NOTCH2 | DISEASES 4659 | PPP1R12A | DISEASES 4001 | LMNB1 | DISEASES 4854 | NOTCH3 | DISEASES 1004 | CDH6 | DISEASES 1950 | EGF | DISEASES 7078 | TIMP3 | DISEASES 134864 | TAAR1 | DISEASES 4851 | NOTCH1 | DISEASES 6876 | TAGLN | DISEASES 351 | APP | DISEASES 1436 | CSF1R | DISEASES 146433 | IL34 | DISEASES 8837 | CFLAR | DISEASES 80169 | CTC1 | DISEASES 51593 | SRRT | DISEASES 1191 | CLU | DISEASES 55109 | AGGF1 | DISEASES 1453 | CSNK1D | DISEASES 2200 | FBN1 | DISEASES 5663 | PSEN1 | DISEASES 3714 | JAG2 | DISEASES 5454 | POU3F2 | DISEASES 27445 | PCLO | DISEASES 54821 | ERCC6L | DISEASES 23462 | HEY1 | DISEASES 54345 | SOX18 | DISEASES 145873 | MESP2 | DISEASES 3516 | RBPJ | DISEASES 5144 | PDE4D | DISEASES 773 | CACNA1A | DISEASES 477 | ATP1A2 | DISEASES 5664 | PSEN2 | DISEASES 5654 | HTRA1 | DISEASES 51177 | PLEKHO1 | DISEASES 11146 | GLMN | DISEASES 26508 | HEYL | DISEASES 4855 | NOTCH4 | DISEASES 23509 | POFUT1 | DISEASES 1282 | COL4A1 | DISEASES 4524 | MTHFR | DISEASES 1471 | CST3 | DISEASES 11235 | PDCD10 | DISEASES 344022 | NOTO | DISEASES 4052 | LTBP1 | DISEASES 2104 | ESRRG | DISEASES 11277 | TREX1 | DISEASES 8831 | SYNGAP1 | DISEASES 5424 | POLD1 | DISEASES 25816 | TNFAIP8 | DISEASES 23741 | EID1 | DISEASES 84667 | HES7 | DISEASES 4553 | MT-TA | DISEASES |
Locus | Symbol | Locus(Total Locus:1) NOTCH3 | 19p13.12 |
Disease ID | 238 |
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Disease | cadasil |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:37) HP:0000407 | Sensorineural hearing impairment HP:0001289 | Confusion HP:0012639 | Abnormality of nervous system morphology HP:0009830 | Peripheral neuropathy HP:0002353 | EEG abnormality HP:0002354 | Memory impairment HP:0002637 | Cerebral ischemia HP:0001945 | Fever HP:0100576 | Amaurosis fugax HP:0002621 | Atherosclerosis HP:0002315 | Headache HP:0000822 | Hypertension HP:0001250 | Seizures HP:0001276 | Hypertonia HP:0001933 | Subcutaneous hemorrhage HP:0001943 | Hypoglycemia HP:0003236 | Elevated serum creatine phosphokinase HP:0000365 | Hearing impairment HP:0001257 | Spasticity HP:0001259 | Coma HP:0002376 | Developmental regression HP:0000505 | Visual impairment HP:0000726 | Dementia HP:0000716 | Depression HP:0001136 | Retinal arteriolar tortuosity HP:0002381 | Aphasia HP:0002071 | Abnormality of extrapyramidal motor function HP:0100309 | Subdural hemorrhage HP:0006824 | Cranial nerve paralysis HP:0007328 | Impaired pain sensation HP:0002301 | Hemiplegia HP:0002120 | Cerebral cortical atrophy HP:0000763 | Sensory neuropathy HP:0002619 | Varicose veins HP:0002076 | Migraine HP:0001288 | Gait disturbance HP:0006532 | Recurrent pneumonia |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0001297 | Cerebral vascular events | 6 HP:0000822 | Hypertension | 4 HP:0002315 | Headaches | 3 HP:0000726 | Dementia | 3 HP:0002076 | Migraine headaches | 2 HP:0100543 | Cognitive deficits | 2 HP:0002511 | Late-onset form of familial Alzheimer disease | 1 HP:0001513 | Obesity | 1 HP:0002960 | Autoimmune condition | 1 HP:0000708 | Behavioral problems | 1 HP:0002133 | Status epilepticus | 1 HP:0001342 | Intracerebral hemorrhage | 1 HP:0002140 | Ischemic stroke | 1 HP:0003077 | Hyperlipidemia | 1 HP:0007302 | Bipolar disorder | 1 |
Disease ID | 238 |
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Disease | cadasil |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:18) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs137852641 | 15694192 | 4854 | NOTCH3 | umls:C0751587 | BeFree | Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. | 0.537478391 | 2005 | NOTCH3 | 19 | 15191466 | G | A |
rs137852642 | 16807713 | 4854 | NOTCH3 | umls:C0751587 | BeFree | We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene and with a concomitant myopathy caused by a 5650G>A mutation in the MTTA gene in mitochondrial DNA (mtDNA). | 0.537478391 | 2006 | NOTCH3 | 19 | 15192242 | G | T,A |
rs137852642 | 15851739 | 4854 | NOTCH3 | umls:C0751587 | BeFree | Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with the R133C NOTCH3 mutation had had neurologic symptoms in 17 of their 43 pregnancies, most commonly hemiparesthesia (76%), hemiparesis (36%), aphasia (65%), and visual disorders (47%). | 0.537478391 | 2005 | NOTCH3 | 19 | 15192242 | G | T,A |
rs137852642 | 15143298 | 4854 | NOTCH3 | umls:C0751587 | BeFree | The aim of this study was to characterize cognitive function in subjects with a C475T (R133C) mutation in the Notch3 gene, leading to CADASIL. | 0.537478391 | 2004 | NOTCH3 | 19 | 15192242 | G | T,A |
rs137852642 | 10969905 | 4854 | NOTCH3 | umls:C0751587 | BeFree | Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. | 0.537478391 | 2000 | NOTCH3 | 19 | 15192242 | G | T,A |
rs137852642 | 17276737 | 4854 | NOTCH3 | umls:C0751587 | BeFree | We have previously described a patient with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) caused by R133C mutation in NOTCH3 and with a concomitant myopathy caused by a G to A point mutation at base pair 5650 (5650G>A) in the gene encoding tRNA(Ala) in mitochondrial DNA (mtDNA). | 0.537478391 | 2007 | NOTCH3 | 19 | 15192242 | G | T,A |
rs137852642 | 15605982 | 4854 | NOTCH3 | umls:C0751587 | BeFree | To verify whether true stenosis of the fibrotic white matter arteries is a key pathogenic event in CADASIL, we analyzed the thickness of walls (expressed as sclerotic index) and luminal diameters of penetrating arterioles in both grey matter and white matter of four CADASIL patients due to the C475T (R133C) mutation in the Notch3 gene and in 9 age-matched controls. | 0.537478391 | 2004 | NOTCH3 | 19 | 15192242 | G | T,A |
rs137852642 | 11486103 | 4854 | NOTCH3 | umls:C0751587 | BeFree | Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation. | 0.537478391 | 2001 | NOTCH3 | 19 | 15192242 | G | T,A |
rs201118034 | 10371548 | 4854 | NOTCH3 | umls:C0751587 | UNIPROT | Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. | 0.537478391 | 1999 | NOTCH3 | 19 | 15187315 | G | A |
rs201118034 | 21852154 | 4854 | NOTCH3 | umls:C0751587 | BeFree | Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. | 0.537478391 | 2013 | NOTCH3 | 19 | 15187315 | G | A |
rs201118034 | 25692567 | 4854 | NOTCH3 | umls:C0751587 | BeFree | Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation. | 0.537478391 | 2015 | NOTCH3 | 19 | 15187315 | G | A |
rs201680145 | 22153900 | 4854 | NOTCH3 | umls:C0751587 | BeFree | We performed whole exome sequencing in a Turkish patient clinically diagnosed with Alzheimer's disease from a consanguineous family with a complex history of neurological and immunological disorders and identified a mutation in NOTCH3 (p.R1231C), previously described as causing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). | 0.537478391 | 2012 | NOTCH3;MIR6795 | 19 | 15179052 | G | A |
rs201680145 | 11102981 | 4854 | NOTCH3 | umls:C0751587 | UNIPROT | We further performed Notch3 mutational scanning in five patients suspected of CADASIL diagnosis in which previous scanning, including SSCP and heteroduplexes analysis, failed to detect any pathogenic mutation. | 0.537478391 | 2000 | NOTCH3;MIR6795 | 19 | 15179052 | G | A |
rs28933696 | 10227618 | 4854 | NOTCH3 | umls:C0751587 | UNIPROT | CADASIL is a hereditary form of small-vessel disease caused by mutations within the Notch3 gene. | 0.537478391 | 1999 | NOTCH3 | 19 | 15192134 | G | A |
rs28933697 | 10227618 | 4854 | NOTCH3 | umls:C0751587 | UNIPROT | CADASIL is a hereditary form of small-vessel disease caused by mutations within the Notch3 gene. | 0.537478391 | 1999 | NOTCH3 | 19 | 15192095 | G | A |
rs28933698 | 12136071 | 4854 | NOTCH3 | umls:C0751587 | BeFree | C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. | 0.537478391 | 2002 | NOTCH3 | 19 | 15189004 | A | G |
rs28933698 | 12136071 | 4854 | NOTCH3 | umls:C0751587 | UNIPROT | C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. | 0.537478391 | 2002 | NOTCH3 | 19 | 15189004 | A | G |
rs28937321 | 9388399 | 4854 | NOTCH3 | umls:C0751587 | UNIPROT | Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. | 0.537478391 | 1997 | NOTCH3 | 19 | 15192504 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
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