Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines



   cadasil
  

Disease ID 238
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)
NOTCH3  |  4854  |  CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
4854  |  NOTCH3  |  infer
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
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
Disease cadasil
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:18)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs137852641156941924854NOTCH3umls:C0751587BeFreeArg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.0.5374783912005NOTCH31915191466GA
rs137852642168077134854NOTCH3umls:C0751587BeFreeWe 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).0.5374783912006NOTCH31915192242GT,A
rs137852642158517394854NOTCH3umls:C0751587BeFreeBased 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%).0.5374783912005NOTCH31915192242GT,A
rs137852642151432984854NOTCH3umls:C0751587BeFreeThe aim of this study was to characterize cognitive function in subjects with a C475T (R133C) mutation in the Notch3 gene, leading to CADASIL.0.5374783912004NOTCH31915192242GT,A
rs137852642109699054854NOTCH3umls:C0751587BeFreeArg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL.0.5374783912000NOTCH31915192242GT,A
rs137852642172767374854NOTCH3umls:C0751587BeFreeWe 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).0.5374783912007NOTCH31915192242GT,A
rs137852642156059824854NOTCH3umls:C0751587BeFreeTo 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.0.5374783912004NOTCH31915192242GT,A
rs137852642114861034854NOTCH3umls:C0751587BeFreePhenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation.0.5374783912001NOTCH31915192242GT,A
rs201118034103715484854NOTCH3umls:C0751587UNIPROTDiagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.0.5374783911999NOTCH31915187315GA
rs201118034218521544854NOTCH3umls:C0751587BeFreeDiversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.0.5374783912013NOTCH31915187315GA
rs201118034256925674854NOTCH3umls:C0751587BeFreeClinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation.0.5374783912015NOTCH31915187315GA
rs201680145221539004854NOTCH3umls:C0751587BeFreeWe 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).0.5374783912012NOTCH3;MIR67951915179052GA
rs201680145111029814854NOTCH3umls:C0751587UNIPROTWe 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.0.5374783912000NOTCH3;MIR67951915179052GA
rs28933696102276184854NOTCH3umls:C0751587UNIPROTCADASIL is a hereditary form of small-vessel disease caused by mutations within the Notch3 gene.0.5374783911999NOTCH31915192134GA
rs28933697102276184854NOTCH3umls:C0751587UNIPROTCADASIL is a hereditary form of small-vessel disease caused by mutations within the Notch3 gene.0.5374783911999NOTCH31915192095GA
rs28933698121360714854NOTCH3umls:C0751587BeFreeC455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.0.5374783912002NOTCH31915189004AG
rs28933698121360714854NOTCH3umls:C0751587UNIPROTC455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.0.5374783912002NOTCH31915189004AG
rs2893732193883994854NOTCH3umls:C0751587UNIPROTStrong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.0.5374783911997NOTCH31915192504CA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)