CASIL
MCID: CDS001
MIFTS: 55

Cadasil (CASIL) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Cardiovascular diseases, Mental diseases

Aliases & Classifications for Cadasil

Aliases & Descriptions for Cadasil:

Name: Cadasil 12 23 50 24 25 51 52 42 14
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 12 50 24 25
Familial Vascular Leukoencephalopathy 50 25 69
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 50 25
Cadasil Syndrome 71 69
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarctsleukoencephalopathy 23
Dementia, Hereditary Multi-Infarct Type 50
Hereditary Dementia, Multi-Infarct Type 25
Hereditary Multi-Infarct Dementia 12
Casil 50

Characteristics:

GeneReviews:

23
Penetrance Penetrance of the disease is probably 100%, but expression varies in age of onset, severity of the clinical symptoms, and progression of the disease...

Classifications:



External Ids:

Disease Ontology 12 DOID:13945
ICD10 33 F01.1
MeSH 42 D046589
NCIt 47 C84606
SNOMED-CT 64 390723008 390936003
UMLS 69 C0751587

Summaries for Cadasil

NINDS : 51  is an inherited form of cerebrovascular disease that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects small blood vessels in the white matter of the brain. A mutation in the Notch3 gene alters the muscular walls in these small arteries. CADASIL is characterized by migraine headaches and multiple strokes progressing to dementia. Other symptoms include cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL — formerly known by several names, including hereditary multi-infarct dementia — is one cause of vascular cognitive impairment (dementia caused by lack of blood to several areas of the brain). It is an autosomal dominant inheritance disorder, meaning that one parent carries and passes on the defective gene. Most individuals with CADASIL have a family history of the disorder. However, because the genetic test for CADASIL was not available before 2000, many cases were misdiagnosed as multiple sclerosis, Alzheimer's disease, or other neurodegenerative diseases.

MalaCards based summary : Cadasil, also known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is related to cadasil 1 and cadasil 2, and has symptoms including fever, seizures and abnormality of extrapyramidal motor function. An important gene associated with Cadasil is NOTCH3 (Notch 3), and among its related pathways/superpathways are ERK Signaling and Signaling by NOTCH1. The drugs Acetaminophen and Buprenorphine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related phenotypes are growth/size/body region and cardiovascular system

Disease Ontology : 12 An autosomal dominant cerebrovascular disorder characterized by recurrent subcortical ischemic stroke and cognitive impairment.

NIH Rare Diseases : 50 cadasil (cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. the disease primarily affects the small blood vessels in the white matter of the brain. cadasil is characterized by migraine headaches and multiple strokes, which progresses to dementia. other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. individuals may also be at higher risk of heart attack. symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. some individuals may not show signs of the disease until later in life. cadasil is caused by a change (or mutation) in a gene called notch3 and is inherited in an autosomal dominant manner. last updated: 9/29/2015

GeneReviews: NBK1500

Related Diseases for Cadasil

Diseases in the Cadasil family:

Cadasil 1 Cadasil 2

Diseases related to Cadasil via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
id Related Disease Score Top Affiliating Genes
1 cadasil 1 12.0
2 cadasil 2 12.0
3 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 11.8
4 brain small vessel disease with or without ocular anomalies 11.0
5 cerebritis 10.6
6 dementia 10.2
7 secondary lacrimal atrophy 10.1 JAG1 NOTCH3
8 bone dysplasia azouz type 10.1 APOE NOTCH3
9 opiate dependence 10.1 EGF JAG1
10 pars planitis 10.1 APOE MTHFR
11 trigonocephaly with short stature and developmental delay 10.1 EGF RBPJ
12 combined oxidative phosphorylation deficiency 8 10.1 APOE PSEN2
13 basal ganglia calcification 10.0 EGF RBPJ
14 dyserythropoietic anemia, congenital, type ii 10.0 APOE EGF JAG1
15 encephalopathy 10.0
16 retinitis 10.0
17 vascular dementia 10.0
18 phosphoglycerate dehydrogenase deficiency 10.0 JAG1 NOTCH3 RBPJ
19 contagious pustular dermatitis 10.0 APOE MTHFR NOTCH3
20 cervix small cell carcinoma 10.0 APOE MTHFR NOTCH3
21 meckel syndrome 10 10.0 APOE PSEN2
22 glaucoma 1, open angle, n 10.0 APOE MTHFR
23 budd-chiari syndrome 10.0 APOE MTHFR NOTCH3
24 eumycotic mycetoma 9.9 APOE NOTCH3 PSEN2
25 interstitial emphysema 9.9 MTHFR NOTCH3
26 artery disease 9.9
27 status epilepticus 9.8
28 peripheral artery disease 9.8
29 hemiplegic migraine 9.8
30 headache 9.8
31 endotheliitis 9.8
32 familial hemiplegic migraine 9.8
33 migraine with aura 9.7
34 arteriovenous malformation 9.7
35 cerebrovascular disease 9.7
36 neuronitis 9.7
37 bipolar disorder 9.7
38 vascular disease 9.7
39 multiple system atrophy 9.5
40 periodontal disease 9.5
41 aneurysm 9.5
42 hemiplegia 9.5
43 cerebral amyloid angiopathy 9.5
44 hypertensive retinopathy 9.5
45 myopathy 9.5
46 spinal cord infarction 9.5
47 fabry disease 9.5
48 pathological gambling 9.5
49 subcortical arteriosclerotic encephalopathy 9.5
50 alopecia 9.5

Graphical network of the top 20 diseases related to Cadasil:



Diseases related to Cadasil

Symptoms & Phenotypes for Cadasil

Human phenotypes related to Cadasil:

32 (show all 32)
id Description HPO Frequency HPO Source Accession
1 fever 32 HP:0001945
2 seizures 32 HP:0001250
3 abnormality of extrapyramidal motor function 32 HP:0002071
4 hemiplegia 32 HP:0002301
5 amaurosis fugax 32 HP:0100576
6 depression 32 HP:0000716
7 hypertension 32 HP:0000822
8 spasticity 32 HP:0001257
9 gait disturbance 32 HP:0001288
10 eeg abnormality 32 HP:0002353
11 developmental regression 32 HP:0002376
12 sensorineural hearing impairment 32 HP:0000407
13 visual impairment 32 HP:0000505
14 cranial nerve paralysis 32 HP:0006824
15 elevated serum creatine phosphokinase 32 HP:0003236
16 hypoglycemia 32 HP:0001943
17 sensory neuropathy 32 HP:0000763
18 migraine 32 HP:0002076
19 cerebral cortical atrophy 32 HP:0002120
20 memory impairment 32 HP:0002354
21 aphasia 32 HP:0002381
22 cerebral ischemia 32 HP:0002637
23 dementia 32 HP:0000726
24 impaired pain sensation 32 HP:0007328
25 coma 32 HP:0001259
26 retinal arteriolar tortuosity 32 HP:0001136
27 varicose veins 32 HP:0002619
28 recurrent pneumonia 32 HP:0006532
29 subcutaneous hemorrhage 32 HP:0001933
30 atherosclerosis 32 HP:0002621
31 confusion 32 HP:0001289
32 subdural hemorrhage 32 HP:0100309

MGI Mouse Phenotypes related to Cadasil:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.16 APOE EGF JAG1 LTBP1 MTHFR NOTCH3
2 cardiovascular system MP:0005385 10.1 APOE JAG1 LTBP1 NOTCH3 PSEN2 RBPJ
3 integument MP:0010771 10.09 APOE EGF JAG1 LTBP1 MTHFR NOTCH3
4 homeostasis/metabolism MP:0005376 10.08 APOE JAG1 LTBP1 MTHFR NOTCH3 PSEN2
5 endocrine/exocrine gland MP:0005379 10.07 APOE EGF JAG1 NOTCH3 PSEN2 RBPJ
6 hematopoietic system MP:0005397 10.04 APOE JAG1 LTBP1 NOTCH3 PSEN2 RBPJ
7 mortality/aging MP:0010768 10.01 APOE JAG1 LTBP1 MTHFR NOTCH3 PSEN2
8 immune system MP:0005387 10 APOE EGF LTBP1 NOTCH3 PSEN2 RBPJ
9 digestive/alimentary MP:0005381 9.95 APOE EGF JAG1 PSEN2 RBPJ
10 embryo MP:0005380 9.93 JAG1 LTBP1 NOTCH3 PSEN2 RBPJ
11 nervous system MP:0003631 9.87 APOE JAG1 LTBP1 MTHFR NOTCH3 PSEN2
12 muscle MP:0005369 9.85 APOE JAG1 LTBP1 NOTCH3 RBPJ TIMP3
13 renal/urinary system MP:0005367 9.8 JAG1 LTBP1 NOTCH3 PSEN2 RBPJ TIMP3
14 respiratory system MP:0005388 9.55 APOE NOTCH3 PSEN2 RBPJ TIMP3
15 skeleton MP:0005390 9.43 APOE JAG1 LTBP1 MTHFR NOTCH3 RBPJ
16 vision/eye MP:0005391 9.17 APOE EGF JAG1 MTHFR NOTCH3 PSEN2

Drugs & Therapeutics for Cadasil

Drugs for Cadasil (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
3 Analgesics Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Analgesics, Opioid Phase 4
6 Antipyretics Phase 4
7 Central Nervous System Depressants Phase 4
8 Narcotic Antagonists Phase 4
9 Narcotics Phase 4
10 Peripheral Nervous System Agents Phase 4,Phase 3
11
Amlodipine Approved Phase 3 88150-42-9 2162
12
Atenolol Approved Phase 3 29122-68-7 2249
13
Losartan Approved Phase 3 114798-26-4 3961
14 Neurotransmitter Agents Phase 3,Phase 2
15 Adrenergic Agents Phase 3
16 Adrenergic Antagonists Phase 3
17 Adrenergic beta-1 Receptor Antagonists Phase 3
18 Adrenergic beta-Antagonists Phase 3
19
Angiotensin II Phase 3 68521-88-0, 11128-99-7 65143 172198
20 Angiotensin II Type 1 Receptor Blockers Phase 3
21 Angiotensin Receptor Antagonists Phase 3
22 Angiotensinogen Phase 3
23 Anti-Arrhythmia Agents Phase 3
24 Antihypertensive Agents Phase 3
25 Autonomic Agents Phase 3
26 calcium channel blockers Phase 3
27 Calcium, Dietary Phase 3
28 Sympatholytics Phase 3
29 Vasodilator Agents Phase 3
30
Donepezil Approved Phase 2 120014-06-4 3152
31 Anticoagulants Phase 2
32 Antithrombin III Phase 2
33 Antithrombins Phase 2
34 Dabigatran Phase 2
35 HIV Protease Inhibitors Phase 2
36
protease inhibitors Phase 2
37 Serine Proteinase Inhibitors Phase 2
38 Cholinergic Agents Phase 2
39 Cholinesterase Inhibitors Phase 2
40 Nootropic Agents Phase 2
41 serine Nutraceutical Phase 2

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 Efficacy of Pain Treatment on Depression in Patients With Dementia Completed NCT02267057 Phase 4
2 Effects of Amlodipine and Other Blood Pressure Lowering Agents on Microvascular Function Not yet recruiting NCT03082014 Phase 3
3 Safety Study of Dabigatran in CADASIL Unknown status NCT01361763 Phase 2
4 The Efficacy, Safety, And Tolerability Of Donepezil HCl (E2020) In Patients With CADASIL Who Have Cognitive Impairment Completed NCT00103948 Phase 2
5 Retinal Nerve Fiber Layer Thickness Changes in Migraine: A Meta-Analysis of Case-control Studies Unknown status NCT02196532
6 Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Completed NCT01114815
7 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
8 Impact of tDCS on Cerebral Autoregulation Completed NCT01865604
9 Retinal Nerve Fiber Layer Thickness Changes in Parkinson Disease: A Meta-analysis Completed NCT01928212
10 CADASIL Disease Discovery Recruiting NCT02821780
11 Imaging Study of Neurovascular Coupling in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Recruiting NCT02071784
12 Generation of a Cellular Model of CADASIL From Skin Fibroblasts Enrolling by invitation NCT02032225

Search NIH Clinical Center for Cadasil

Cochrane evidence based reviews: cadasil

Genetic Tests for Cadasil

Genetic tests related to Cadasil:

id Genetic test Affiliating Genes
1 Cadasil 24 NOTCH3

Anatomical Context for Cadasil

MalaCards organs/tissues related to Cadasil:

39
Brain, Heart, Testes, Skin, Smooth Muscle, Endothelial, Cortex

Publications for Cadasil

Articles related to Cadasil:

(show top 50) (show all 588)
id Title Authors Year
1
CADASIL mimicking multiple sclerosis: The importance of clinical and MRI red flags. ( 27773545 )
2017
2
Genotype-phenotype correlations of cysteine replacement in CADASIL. ( 27890607 )
2017
3
Managing Depression in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Case Report. ( 27828708 )
2016
4
Novel mutation of the NOTCH3 gene in a Polish family with CADASIL. ( 27375140 )
2016
5
CADASIL and multiple sclerosis: A case report of prolonged misdiagnosis. ( 27712110 )
2016
6
Multifocal Cerebral and Bilateral Middle Cerebellar Peduncle Infarctions in CADASIL. ( 26956688 )
2016
7
A Novel mutation of the Notch3 gene in a Chinese Pedigree with CADASIL. ( 27781952 )
2016
8
Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice. ( 26648042 )
2016
9
CADASIL presenting with spontaneous intracerebral hemorrhage: report of a case and description of the first family in Northern Greece. ( 27895449 )
2016
10
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. ( 27844030 )
2016
11
The comparisons of phenotype and genotype between CADASIL and CADASIL-like patients and population-specific evaluation of CADASIL scale in China. ( 27206574 )
2016
12
Diffusion Tensor Imaging to Map Brain Microstructural Changes in CADASIL. ( 27357066 )
2016
13
CADASIL: Migraine, Encephalopathy, Stroke and Their Inter-Relationships. ( 27309730 )
2016
14
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept. ( 26912635 )
2016
15
CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions. ( 27725551 )
2016
16
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family. ( 27423596 )
2016
17
Recurrent transient global amnesia as presenting symptoms of CADASIL. ( 27830070 )
2016
18
Cutaneous sensory and autonomic denervation in CADASIL. ( 26873958 )
2016
19
A Japanese CADASIL kindred with a novel two-base NOTCH3 mutation. ( 27079553 )
2016
20
Blood Biomarkers in a Mouse Model of CADASIL. ( 27174004 )
2016
21
CADASIL, CARASIL, CARASAL: The linguistic subtleties of cerebral small vessel disease. ( 27664986 )
2016
22
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients. ( 27881154 )
2016
23
[Study of a CADASIL family with migraine as the presenting symptom]. ( 27455010 )
2016
24
Prediction of 3-year clinical course in CADASIL. ( 27694265 )
2016
25
Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study. ( 26850715 )
2016
26
CADASIL: Imaging Characteristics and Clinical Correlation. ( 27591799 )
2016
27
Age-dependent expression of VEGFR2 in deep brain arteries in small vessel disease, CADASIL, and healthy brains. ( 27143427 )
2016
28
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation. ( 26715087 )
2015
29
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) - literature review apropos an autopsy case. ( 26619111 )
2015
30
Are granular osmiophilic material deposits an epiphenomenon in CADASIL? ( 26216120 )
2015
31
CADASIL with a Novel NOTCH3 Mutation (Cys478Tyr). ( 25595846 )
2015
32
Cerebral hyperperfusion on arterial spin labeling MRI during CADASIL migrainous encephalopathy. ( 26567267 )
2015
33
Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. ( 25980907 )
2015
34
The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations. ( 25982499 )
2015
35
NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients. ( 26002683 )
2015
36
Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke. ( 26305465 )
2015
37
APOE and AGT in the Finnish p.Arg133Cys CADASIL population. ( 25819272 )
2015
38
Mouse model of CADASIL reveals novel insights into Notch3 function in adult hippocampal neurogenesis. ( 25555543 )
2015
39
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. ( 26308724 )
2015
40
Recurrent status epilepticus as the primary neurological manifestation of CADASIL: A case report. ( 25870789 )
2015
41
CADASIL with Multiorgan Involvement: a Complete Autopsy Examination Report. ( 26138243 )
2015
42
Correction: Clinical Significance of Cerebral Microbleeds Locations in CADASIL with R544C NOTCH3 Mutation. ( 25856100 )
2015
43
Correction: R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL. ( 26368811 )
2015
44
Novel Method for Automated Analysis of Retinal Images: Results in Subjects with Hypertensive Retinopathy and CADASIL. ( 26167496 )
2015
45
The Small Leucine-Rich Proteoglycan BGN Accumulates in CADASIL and Binds to NOTCH3. ( 25578324 )
2015
46
Response to Letter Regarding Article, "Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro". ( 25922512 )
2015
47
Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation. ( 25692567 )
2015
48
Letter by Rutten et al Regarding Article, "Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro". ( 25922511 )
2015
49
Combined deficiency of Notch1 and Notch3 causes pericyte dysfunction, models CADASIL, and results in arteriovenous malformations. ( 26563570 )
2015
50
Longitudinally extensive transverse myelopathy in a patient with CADASIL. ( 26352503 )
2015

Variations for Cadasil

ClinVar genetic disease variations for Cadasil:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH3 NM_000435.2(NOTCH3): c.213G> T (p.Trp71Cys) single nucleotide variant Pathogenic rs28937321 GRCh37 Chromosome 19, 15303315: 15303315
2 NOTCH3 NM_000435.2(NOTCH3): c.505C> T (p.Arg169Cys) single nucleotide variant Pathogenic rs28933696 GRCh37 Chromosome 19, 15302945: 15302945
3 NOTCH3 NM_000435.2(NOTCH3): c.544C> T (p.Arg182Cys) single nucleotide variant Pathogenic rs28933697 GRCh37 Chromosome 19, 15302906: 15302906
4 NOTCH3 NM_000435.2(NOTCH3): c.187G> A (p.Ala63Thr) single nucleotide variant Pathogenic rs864621964 GRCh37 Chromosome 19, 15308321: 15308321
5 NOTCH3 NM_000435.2(NOTCH3): c.714_758del45 (p.Asp239_Asp253del) deletion Pathogenic rs864621965 GRCh38 Chromosome 19, 15191789: 15191833
6 NOTCH3 NM_000435.2(NOTCH3): c.1363T> C (p.Cys455Arg) single nucleotide variant Pathogenic rs28933698 GRCh37 Chromosome 19, 15299815: 15299815
7 NOTCH3 NM_000435.2(NOTCH3): c.994C> T (p.Arg332Cys) single nucleotide variant Pathogenic rs137852641 GRCh37 Chromosome 19, 15302277: 15302277
8 NOTCH3 NM_000435.2(NOTCH3): c.397C> T (p.Arg133Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852642 GRCh37 Chromosome 19, 15303053: 15303053
9 NOTCH3 NM_000435.2(NOTCH3): c.2411_2566del156 single nucleotide variant Pathogenic rs864621966 GRCh37 Chromosome 19, 15295262: 15295262
10 NOTCH3 NM_000435.2(NOTCH3): c.1282T> A (p.Cys428Ser) single nucleotide variant Pathogenic rs267606915 GRCh37 Chromosome 19, 15299896: 15299896
11 NOTCH3 NM_000435.2(NOTCH3): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs797045014 GRCh38 Chromosome 19, 15192182: 15192182
12 NOTCH3 NM_000435.2(NOTCH3): c.1187C> G (p.Ser396Cys) single nucleotide variant Pathogenic rs863225297 GRCh37 Chromosome 19, 15300089: 15300089

Expression for Cadasil

Search GEO for disease gene expression data for Cadasil.

Pathways for Cadasil

Pathways related to Cadasil according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 EGF LTBP1 NOTCH3 PSEN2 RBPJ TIMP3
2
Show member pathways
12.47 JAG1 NOTCH3 PSEN2 RBPJ
3
Show member pathways
12.26 JAG1 NOTCH3 RBPJ
4 12.2 APOE NOTCH3 PSEN2
5
Show member pathways
12.1 JAG1 NOTCH3 PSEN2 RBPJ
6
Show member pathways
11.81 JAG1 PSEN2 RBPJ
7
Show member pathways
11.7 JAG1 PSEN2 RBPJ
8 11.65 NOTCH3 PSEN2 RBPJ
9 11.51 JAG1 NOTCH3 PSEN2 RBPJ
10 11.36 EGF LTBP1 TIMP3
11 11.29 EGF LTBP1
12 11.27 JAG1 NOTCH3 TIMP3
13 11.15 JAG1 RBPJ
14 11.11 APOE PSEN2
15 10.36 JAG1 NOTCH3 PSEN2 RBPJ

GO Terms for Cadasil

Cellular components related to Cadasil according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.13 APOE LTBP1 TIMP3
2 extracellular region GO:0005576 9.1 APOE EGF JAG1 LTBP1 NOTCH3 TIMP3

Biological processes related to Cadasil according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.58 EGF JAG1 RBPJ
2 negative regulation of neuron differentiation GO:0045665 9.43 JAG1 NOTCH3
3 negative regulation of cell differentiation GO:0045596 9.43 JAG1 NOTCH3 RBPJ
4 blood vessel remodeling GO:0001974 9.37 JAG1 RBPJ
5 artery morphogenesis GO:0048844 9.33 APOE NOTCH3 RBPJ
6 Notch signaling involved in heart development GO:0061314 9.32 JAG1 RBPJ
7 Notch signaling pathway GO:0007219 9.26 JAG1 NOTCH3 PSEN2 RBPJ
8 Notch receptor processing GO:0007220 8.8 JAG1 NOTCH3 PSEN2

Molecular functions related to Cadasil according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.92 EGF JAG1 LTBP1 NOTCH3

Sources for Cadasil

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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