CADASIL1
MCID: CRB175
MIFTS: 70

Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 (CADASIL1)

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

Aliases & Classifications for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

MalaCards integrated aliases for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1:

Name: Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 57
Cadasil 57 12 25 20 43 53 58 72 54 44 15
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 12 73 20 43 29 6
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 57 29 6
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 20 43 13
Familial Vascular Leukoencephalopathy 20 43 70
Casil 57 20 72
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Type 1 29 6
Hereditary Multi-Infarct Dementia 12 58
Cadasil Syndrome 73 70
Cadasil1 57 72
Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Type 1 12
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 1 72
Arteriopathy, Cerebral, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy 39
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Autosomal Dominant 72
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts Leukoencephalopathy 25
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy 58
Dementia, Hereditary Multi-Infarct Type 20
Hereditary Dementia, Multi-Infarct Type 43
Dementia, Hereditary Multiinfarct Type 57
Dementia Hereditary Multi-Infarct Type 72
Cadasil 1 12

Characteristics:

Orphanet epidemiological data:

58
cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-9/100000 (Finland); Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
adult onset (third decade)
death usually in sixth decade
penetrance of disease is complete between 30 and 40 years of age
presents as early-onset strokes in 43% of patients


HPO:

31
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


GeneReviews:

25
Penetrance Pathogenic variants in egfr domains 1-6 appear to be fully penetrant and are usually associated with the classic cadasil phenotype. however, there is variability in disease severity....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

MedlinePlus Genetics : 43 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy).Damaged blood vessels reduce blood flow and can cause areas of tissue death (infarcts) throughout the body. An infarct in the brain can lead to a stroke. In individuals with CADASIL, a stroke can occur at any time from childhood to late adulthood, but typically happens during mid-adulthood. People with CADASIL often have more than one stroke in their lifetime. Recurrent strokes can damage the brain over time. Strokes that occur in the subcortical region of the brain, which is involved in reasoning and memory, can cause progressive loss of intellectual function (dementia) and changes in mood and personality.Many people with CADASIL also develop leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).The age at which the signs and symptoms of CADASIL first begin varies greatly among affected individuals, as does the severity of these features.CADASIL is not associated with the common risk factors for stroke and heart attack, such as high blood pressure and high cholesterol, although some affected individuals might also have these health problems.

MalaCards based summary : Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1, also known as cadasil, is related to col4a1-related familial vascular leukoencephalopathy and cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2. An important gene associated with Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 is NOTCH3 (Notch Receptor 3), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. The drugs Donepezil and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include brain, smooth muscle and eye, and related phenotypes are leukoencephalopathy and multifocal hyperintensity of cerebral white matter on mri

Disease Ontology : 12 A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.

GARD : 20 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 variant (or mutation ) in a gene called NOTCH3. Inheritance is autosomal dominant. There is no cure yet. Treatment is only supportive and depends on the symptoms. Most people with CADASIL become bed-ridden and develop dementia over time. Life expectancy is also reduced in people with CADASIL due, especially, to lung and heart diseases. Because people who smoke or have high arterial pressure or have other vascular risk factors, control of any vascular risk factors is an important part of CADASIL management.

OMIM® : 57 Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive disorder of the small arterial vessels of the brain manifest by migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients (review by Kalimo et al., 1999). (125310) (Updated 20-May-2021)

NINDS : 53 CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) 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.

UniProtKB/Swiss-Prot : 72 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.

Wikipedia : 73 CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical... more...

GeneReviews: NBK1500

Related Diseases for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

Diseases in the Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy family:

Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2

Diseases related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 210)
# Related Disease Score Top Affiliating Genes
1 col4a1-related familial vascular leukoencephalopathy 32.5 NOTCH3 HTRA1 COL4A1
2 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 31.7 NOTCH3 HTRA1
3 vascular dementia 31.2 SERPINA3 NOTCH3 APOE
4 binswanger's disease 30.6 NOTCH3 APOE
5 cerebrovascular disease 30.6 SERPINA3 NOTCH3 HTRA1 COL4A1 APOE
6 arteriolosclerosis 30.2 SERPINA3 NOTCH3 APOE
7 cerebral arterial disease 29.8 SERPINA3 COL4A1 APOE
8 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 29.7 SERPINA3 NOTCH3 HTRA1 COL4A1
9 alagille syndrome 1 28.0 SRRT RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
10 microangiopathy and leukoencephalopathy, pontine, autosomal dominant 11.0
11 migraine with or without aura 1 10.8
12 migraine with aura 10.6
13 factor xii deficiency 10.6
14 stroke, ischemic 10.5
15 dementia - subcortical 10.5
16 vascular disease 10.5
17 pseudobulbar palsy 10.4
18 carpal tunnel syndrome 10.4
19 nonarteritic anterior ischemic optic neuropathy 10.4
20 ifap syndrome 2 10.4
21 peripheral vascular disease 10.4
22 aspiration pneumonia 10.4
23 cerebral artery occlusion 10.4
24 suppression amblyopia 10.4
25 amblyopia 10.4
26 chorioretinal scar 10.4
27 polyneuropathy 10.4
28 severe acute respiratory syndrome 10.4
29 ulnar neuropathy 10.4
30 end stage renal disease 10.4
31 intermediate coronary syndrome 10.4
32 mood disorder 10.4
33 dementia 10.4
34 transient cerebral ischemia 10.3
35 acromegaly 10.3
36 lipid metabolism disorder 10.3
37 pituitary tumors 10.3
38 xanthogranulomatous pyelonephritis 10.3 SERPINA3 EGF
39 nodular regenerative hyperplasia 10.3 NOTCH2 NOTCH1 JAG1
40 oliver syndrome 10.3 RBPJ NOTCH1 DLL4
41 encephalopathy 10.2
42 stork bite 10.2 RBPJ NOTCH2 JAG1
43 lung adenoma 10.2 NOTCH3 NOTCH2 NOTCH1
44 lacrimal gland adenoid cystic carcinoma 10.2 NOTCH2 NOTCH1
45 multiple sclerosis 10.2
46 ocular motor apraxia 10.2
47 headache 10.2
48 dowling-degos disease 10.2 NOTCH2 NOTCH1 JAG1
49 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 10.2
50 patent ductus arteriosus 1 10.2 NOTCH2 NOTCH1 JAG1

Graphical network of the top 20 diseases related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1:



Diseases related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1

Symptoms & Phenotypes for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

Human phenotypes related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukoencephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002352
2 multifocal hyperintensity of cerebral white matter on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0040329
3 lacunar stroke 58 31 hallmark (90%) Very frequent (99-80%) HP:0032325
4 transient ischemic attack 58 31 frequent (33%) Frequent (79-30%) HP:0002326
5 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
6 mood changes 58 31 frequent (33%) Frequent (79-30%) HP:0001575
7 migraine with aura 58 31 frequent (33%) Frequent (79-30%) HP:0002077
8 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
9 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
10 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
11 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
12 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
13 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
14 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
15 motor deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002333
16 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
17 arterial stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100545
18 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
19 cerebral hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0001342
20 encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001298
21 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
22 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
23 confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001289
24 loss of consciousness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007185
25 brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012444
26 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
27 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
28 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
29 recurrent subcortical infarcts 58 31 occasional (7.5%) Occasional (29-5%) HP:0007236
30 bradyphrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031843
31 stress urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0010992
32 peripheral neuropathy 31 occasional (7.5%) HP:0009830
33 visual loss 31 occasional (7.5%) HP:0000572
34 seizure 31 occasional (7.5%) HP:0001250
35 aphasia 58 31 very rare (1%) Very rare (<4-1%) HP:0002381
36 behavioral abnormality 31 very rare (1%) HP:0000708
37 stroke 58 31 Frequent (79-30%) HP:0001297
38 migraine 58 31 Frequent (79-30%) HP:0002076
39 seizures 58 Occasional (29-5%)
40 abnormality of visual evoked potentials 31 HP:0000649
41 cognitive impairment 58 Frequent (79-30%)
42 abnormal electroretinogram 31 HP:0000512
43 varicose veins 31 HP:0002619
44 cerebral ischemia 58 Frequent (79-30%)
45 intracranial hemorrhage 58 Occasional (29-5%)
46 abnormality of the skin 31 HP:0000951
47 abnormality of the cerebral white matter 58 Very frequent (99-80%)
48 urinary incontinence 31 HP:0000020
49 pseudobulbar paralysis 31 HP:0007024
50 ischemic stroke 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
leukoencephalopathy
vasculopathy of the small arteries penetrating the white matter
small and medium-sized leptomeningeal arteries show luminal narrowing or obliteration
long perforating arteries of the brain are affected
affected arteries have electron-dense granular material close to vascular smooth muscle cell membranes
more
Head And Neck Eyes:
acute vision loss due to optic nerve infarction (rare)
nonarteritic anterior ischemic optic neuropathy (naion)
abnormal electroretinogram (erg)
abnormal visual evoked responses (vep)

Skin Nails Hair Skin:
varicose veins (reported in 1 family)

Neurologic Behavioral Psychiatric Manifestations:
psychiatric disturbances (9% of patients)
mood disorders

Genitourinary Bladder:
urinary incontinence

Cardiovascular Vascular:
vasculopathy of the small arteries penetrating the white matter
small and medium-sized leptomeningeal arteries show luminal narrowing or obliteration
long perforating arteries of the brain are affected
affected arteries have electron-dense granular material close to vascular smooth muscle cell membranes
affected arteries show loss of smooth muscle cells
more
Skin Nails Hair Skin Electron Microscopy:
biopsy shows granular osmiophilic material of variable electron density adjacent to basal membrane of vascular smooth muscle cell

Clinical features from OMIM®:

125310 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.4 SRRT
2 Decreased viability GR00249-S 9.4 CFLAR JAG2 SERPINA3
3 Decreased viability GR00386-A-1 9.4 APOE HEY1 JAG1 NOTCH1 NRP1
4 Decreased viability GR00402-S-2 9.4 DLL3 HTRA1 NOTCH4

MGI Mouse Phenotypes related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.49 APOE ATP1A2 CFLAR COL4A1 DLL1 DLL3
2 cardiovascular system MP:0005385 10.47 APOE ATP1A2 CFLAR COL4A1 DLL1 DLL4
3 embryo MP:0005380 10.46 ATP1A2 CFLAR COL4A1 DLL1 DLL3 DLL4
4 cellular MP:0005384 10.4 APOE CFLAR COL4A1 DLL1 DLL4 HEY1
5 behavior/neurological MP:0005386 10.38 APOE ATP1A2 CFLAR COL4A1 DLL1 DLL3
6 mortality/aging MP:0010768 10.36 APOE ATP1A2 CFLAR COL4A1 DLL1 DLL3
7 homeostasis/metabolism MP:0005376 10.34 APOE ATP1A2 CFLAR COL4A1 DLL1 DLL4
8 endocrine/exocrine gland MP:0005379 10.33 APOE CFLAR DLL1 DLL4 EGF JAG1
9 hematopoietic system MP:0005397 10.32 APOE CFLAR COL4A1 DLL1 DLL4 JAG1
10 immune system MP:0005387 10.29 APOE CFLAR COL4A1 DLL1 DLL4 EGF
11 muscle MP:0005369 10.25 APOE ATP1A2 CFLAR COL4A1 DLL1 DLL3
12 nervous system MP:0003631 10.21 APOE ATP1A2 COL4A1 DLL1 DLL3 HEY1
13 craniofacial MP:0005382 10.18 DLL3 HEY1 JAG1 JAG2 NOTCH1 NOTCH2
14 digestive/alimentary MP:0005381 10.17 APOE DLL1 EGF JAG1 JAG2 NOTCH1
15 integument MP:0010771 10.16 APOE ATP1A2 EGF JAG1 JAG2 NOTCH1
16 hearing/vestibular/ear MP:0005377 10.13 APOE DLL1 DLL3 JAG1 JAG2 NOTCH1
17 normal MP:0002873 10.06 ATP1A2 DLL1 DLL4 EGF HEY1 JAG1
18 renal/urinary system MP:0005367 9.86 APOE COL4A1 DLL1 JAG1 NOTCH1 NOTCH2
19 respiratory system MP:0005388 9.76 APOE ATP1A2 COL4A1 JAG2 NOTCH1 NOTCH2
20 skeleton MP:0005390 9.65 APOE DLL1 DLL3 HTRA1 JAG1 JAG2
21 vision/eye MP:0005391 9.4 APOE COL4A1 DLL3 DLL4 EGF HTRA1

Drugs & Therapeutics for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

Drugs for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 2 120014-06-4 3152
2
Tocopherol Approved, Investigational Phase 2 1406-66-2
3
Cilostazol Approved, Investigational Phase 1, Phase 2 73963-72-1 2754
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
5
Dabigatran Investigational Phase 2 211914-51-1
6 Tocotrienol Investigational Phase 2 6829-55-6
7 Anticoagulants Phase 2
8 Serine Proteinase Inhibitors Phase 2
9 Antithrombin III Phase 2
10 Antithrombins Phase 2
11 HIV Protease Inhibitors Phase 2
12
protease inhibitors Phase 2
13 Cholinesterase Inhibitors Phase 2
14 Neurotransmitter Agents Phase 2
15 Cholinergic Agents Phase 2
16 Nootropic Agents Phase 2
17 Micronutrients Phase 2
18 Trace Elements Phase 2
19 Nutrients Phase 2
20 Antioxidants Phase 2
21 Vitamins Phase 2
22 Soy Bean Phase 2
23 Protective Agents Phase 2
24 Tocotrienols Phase 2
25 Tocovid Phase 2
26 Tocopherols Phase 2
27 Fibrinolytic Agents Phase 1, Phase 2
28 Respiratory System Agents Phase 1, Phase 2
29 Vasodilator Agents Phase 1, Phase 2
30 Anti-Asthmatic Agents Phase 1, Phase 2
31 Phosphodiesterase Inhibitors Phase 1, Phase 2
32 Neuroprotective Agents Phase 1, Phase 2
33 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
34 Platelet Aggregation Inhibitors Phase 1, Phase 2
35 Bronchodilator Agents Phase 1, Phase 2
36
Serine Investigational, Nutraceutical Phase 2 56-45-1 5951

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Phase II, Randomized, Crossover, Single Blind, Safety Trial of DABIGATRAN Versus ASA for Preventing Ischaemic Brain Lesions in Patients Affected by CADASIL Unknown status NCT01361763 Phase 2 Dabigatran;Antiplatelets
2 An 18-Week, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study Of The Efficacy, Safety, And Tolerability Of Donepezil HCl (E2020) In Patients With CADASIL Who Have Cognitive Impairment Completed NCT00103948 Phase 2 Aricept
3 A Randomized Placebo-controlled Double-blind Pilot / Phase II Study to Assess the Efficacy and Safety of HOV-12020 in Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Recruiting NCT04658823 Phase 2 HOV-12020 (Palm tocotrienols complex);Placebo
4 Retinal Vasoreactivity is a Marker for Cerebral Small Vessel Disease Progression Recruiting NCT04753970 Phase 1, Phase 2 Cilostazol
5 A Phase II Double-Blinded Placebo Controlled Individual Subject Stepped Wedge Clinical Trial Evaluating the Safety and Efficacy of Fremanezumab for Migraine in Adult CADASIL Not yet recruiting NCT04334408 Phase 2 Fremanezumab;Placebo
6 Etude Comparative en Imagerie Par résonnance magnétique et Par Enregistrement électroencéphalographique du Couplage Neurovasculaire Dans l'Angiopathie Cadasil Unknown status NCT02071784
7 Obtention d'un modèle Cellulaire de la Maladie CADASIL à Partir de Fibroblastes cutanés de Patients Unknown status NCT02032225
8 Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis Completed NCT01114815
9 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
10 Impact of tDCS on Cerebral Autoregulation Completed NCT01865604
11 Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Registry Study Recruiting NCT04310098
12 Développement de Nouveaux Biomarqueurs en Imagerie Par résonance magnétique Pour Les études Longitudinales Dans l'Angiopathie CADASIL Recruiting NCT04036084
13 Alzheimer's Autism and Cognitive Impairment Stem Cell Treatment Study Recruiting NCT03724136
14 Evaluating the Effectiveness of an Online Small-Group Self-Management Workshop for Rural Caregivers of Individuals With Alzheimer's Disease and Related Dementias Recruiting NCT04428112
15 Neurologic Bone Marrow Derived Stem Cell Treatment Study Recruiting NCT02795052
16 CADASIL Disease Discovery Active, not recruiting NCT02821780
17 A Training and Fidelity Model to Move and Scale Evidence-based Dementia Care and Caregiver Support Programs Into Practice: The Case for COPE in PACE Service Settings Not yet recruiting NCT04165213
18 Virtual CST - A Collaborative Proof of Concept Study With FaceCog HK in Response to the Covid-19 Pandemic Not yet recruiting NCT04828434

Search NIH Clinical Center for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1

Cochrane evidence based reviews: cadasil

Genetic Tests for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

Genetic tests related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1:

# Genetic test Affiliating Genes
1 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 29 NOTCH3
2 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Type 1 29 NOTCH3
3 Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 29

Anatomical Context for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

MalaCards organs/tissues related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1:

40
Brain, Smooth Muscle, Eye, Heart, Skin, Bone Marrow, Endothelial

Publications for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

Articles related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1:

(show top 50) (show all 1335)
# Title Authors PMID Year
1
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. 61 54 6 25 57
11755616 2001
2
Detection of the founder effect in Finnish CADASIL families. 61 25 57 6
15378071 2004
3
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. 25 57 6 61
12136071 2002
4
Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. 57 6 54 61
17235124 2007
5
Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene. 54 6 57 61
16864835 2006
6
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. 61 54 6 57
8878478 1996
7
Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain. 54 61 25 6
19293235 2009
8
Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. 25 57 54 61
19174371 2009
9
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. 61 6 54 25
19242647 2009
10
Cysteine-sparing notch3 mutations: cadasil or cadasil variants? 6 57 61
18765654 2008
11
Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. 6 57 61
16717210 2006
12
Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. 57 54 25 61
16009764 2005
13
CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. 6 54 25 61
12146805 2002
14
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. 54 6 61 25
11706120 2001
15
De novo mutation in the Notch3 gene causing CADASIL. 25 6 54 61
10716263 2000
16
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. 61 25 6
25344745 2015
17
Case report: bipolar disorder as the first manifestation of CADASIL. 61 6 25
24929957 2014
18
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. 61 57 25
24000151 2013
19
Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL. 61 25 6
23649698 2013
20
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. 6 61 25
23602593 2013
21
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. 25 6 61
21852154 2013
22
NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. 61 25 6
20935329 2011
23
Brain volume changes in CADASIL: a serial MRI study in pure subcortical ischemic vascular disease. 61 57 25
16717211 2006
24
The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia. 61 57 25
16263847 2005
25
Neurologic symptoms are common during gestation and puerperium in CADASIL. 57 25 61
15851739 2005
26
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages--3rd-6th decades. 61 57 25
14593195 2003
27
Diagnostic strategies in CADASIL. 25 57 61
12395806 2002
28
The phenotypic spectrum of CADASIL: clinical findings in 102 cases. 25 57 61
9818928 1998
29
Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. 61 57 54
20038773 2010
30
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 57 54 61
15096408 2004
31
Incipient CADASIL. 54 61 57
12756134 2003
32
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. 54 6 61
11559313 2001
33
The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. 6 54 61
10712431 2000
34
CADASIL: hereditary disease of arteries causing brain infarcts and dementia. 54 61 57
10476042 1999
35
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. 6 61 54
10371548 1999
36
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. 61 54 6
9388399 1997
37
Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine. 54 61 57
8786108 1996
38
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval. 54 61 57
8554054 1996
39
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance. 61 57
32732295 2020
40
NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients. 6 61
26002683 2015
41
Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. 61 6
25980907 2015
42
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. 6 61
26308724 2015
43
Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 61 6
24139282 2014
44
Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations. 61 6
23847153 2014
45
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 61 6
22664156 2012
46
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL. 61 6
22367839 2012
47
CADASIL mutation and Balo concentric sclerosis: a link between demyelination and ischemia? 61 57
22218279 2012
48
Nerve conduction studies in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 61 25 54
19488673 2009
49
CADASIL mutations enhance spontaneous multimerization of NOTCH3. 61 6
19417009 2009
50
Cysteine-sparing notch3 mutations: cadasil or cadasil variants? 61 6
19528524 2009

Variations for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

ClinVar genetic disease variations for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1:

6 (show top 50) (show all 260)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOTCH3 NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) SNV Pathogenic 9218 rs28937321 GRCh37: 19:15303315-15303315
GRCh38: 19:15192504-15192504
2 NOTCH3 NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) SNV Pathogenic 9219 rs28933696 GRCh37: 19:15302945-15302945
GRCh38: 19:15192134-15192134
3 NOTCH3 NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) SNV Pathogenic 9220 rs28933697 GRCh37: 19:15302906-15302906
GRCh38: 19:15192095-15192095
4 NOTCH3 NM_000435.3(NOTCH3):c.187G>A (p.Ala63Thr) SNV Pathogenic 9221 rs864621964 GRCh37: 19:15308321-15308321
GRCh38: 19:15197510-15197510
5 NOTCH3 NM_000435.3(NOTCH3):c.714_758del (p.Asp239_Asp253del) Deletion Pathogenic 9222 rs864621965 GRCh37: 19:15302600-15302644
GRCh38: 19:15191789-15191833
6 NOTCH3 NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) SNV Pathogenic 9223 rs28933698 GRCh37: 19:15299815-15299815
GRCh38: 19:15189004-15189004
7 NOTCH3 NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) SNV Pathogenic 9224 rs137852641 GRCh37: 19:15302277-15302277
GRCh38: 19:15191466-15191466
8 NOTCH3 NM_000435.3(NOTCH3):c.2411-1G>T SNV Pathogenic 9226 rs864621966 GRCh37: 19:15295262-15295262
GRCh38: 19:15184451-15184451
9 NOTCH3 NM_000435.3(NOTCH3):c.1282T>A (p.Cys428Ser) SNV Pathogenic 9228 rs267606915 GRCh37: 19:15299896-15299896
GRCh38: 19:15189085-15189085
10 NOTCH3 NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) SNV Pathogenic 101050 rs371491165 GRCh37: 19:15302999-15302999
GRCh38: 19:15192188-15192188
11 NOTCH3 NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) SNV Pathogenic 208501 rs797045014 GRCh37: 19:15302993-15302993
GRCh38: 19:15192182-15192182
12 NOTCH3 NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) SNV Pathogenic 217882 rs863225297 GRCh37: 19:15300089-15300089
GRCh38: 19:15189278-15189278
13 NOTCH3 NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) SNV Pathogenic 447816 rs1555729604 GRCh37: 19:15303260-15303260
GRCh38: 19:15192449-15192449
14 NOTCH3 NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) SNV Pathogenic 447794 rs75068032 GRCh37: 19:15298084-15298084
GRCh38: 19:15187273-15187273
15 NOTCH3 NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) SNV Pathogenic 546089 rs201118034 GRCh37: 19:15298126-15298126
GRCh38: 19:15187315-15187315
16 NOTCH3 NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) SNV Pathogenic 632306 rs145069047 GRCh37: 19:15303304-15303304
GRCh38: 19:15192493-15192493
17 NOTCH3 NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) SNV Pathogenic 447823 rs1555727942 GRCh37: 19:15291618-15291618
GRCh38: 19:15180807-15180807
18 NOTCH3 NOTCH3, ARG141CYS Variation Pathogenic 689454 GRCh37:
GRCh38:
19 NOTCH3 NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) SNV Pathogenic 447849 rs1236699193 GRCh37: 19:15303013-15303013
GRCh38: 19:15192202-15192202
20 NOTCH3 NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) SNV Pathogenic 803539 rs1599382214 GRCh37: 19:15291591-15291591
GRCh38: 19:15180780-15180780
21 NOTCH3 NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) SNV Pathogenic 803540 rs1202763005 GRCh37: 19:15298704-15298704
GRCh38: 19:15187893-15187893
22 NOTCH3 NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) SNV Pathogenic 585611 rs1568361818 GRCh37: 19:15302870-15302870
GRCh38: 19:15192059-15192059
23 NOTCH3 NM_000435.3(NOTCH3):c.1531T>G (p.Cys511Gly) SNV Pathogenic 930703 GRCh37: 19:15298767-15298767
GRCh38: 19:15187956-15187956
24 NOTCH3 NM_000435.3(NOTCH3):c.194G>T (p.Cys65Phe) SNV Pathogenic 972687 GRCh37: 19:15308314-15308314
GRCh38: 19:15197503-15197503
25 NOTCH3 NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) SNV Pathogenic 447803 rs1555730176 GRCh37: 19:15308314-15308314
GRCh38: 19:15197503-15197503
26 NOTCH3 NM_000435.3(NOTCH3):c.3241T>C (p.Cys1081Arg) SNV Pathogenic 975941 GRCh37: 19:15290969-15290969
GRCh38: 19:15180158-15180158
27 NOTCH3 NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) SNV Pathogenic/Likely pathogenic 9225 rs137852642 GRCh37: 19:15303053-15303053
GRCh38: 19:15192242-15192242
28 NOTCH3 NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) SNV Likely pathogenic 447862 rs775267348 GRCh37: 19:15302831-15302831
GRCh38: 19:15192020-15192020
29 NOTCH3 NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) SNV Likely pathogenic 1064640 GRCh37: 19:15302304-15302304
GRCh38: 19:15191493-15191493
30 NOTCH3 NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) SNV Likely pathogenic 447862 rs775267348 GRCh37: 19:15302831-15302831
GRCh38: 19:15192020-15192020
31 NOTCH3 NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) SNV Likely pathogenic 447830 rs1438626607 GRCh37: 19:15290984-15290984
GRCh38: 19:15180173-15180173
32 NOTCH3 NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) SNV Likely pathogenic 546834 rs1555729346 GRCh37: 19:15302339-15302339
GRCh38: 19:15191528-15191528
33 NOTCH3 NM_000435.3(NOTCH3):c.2701T>C (p.Cys901Arg) SNV Likely pathogenic 975967 GRCh37: 19:15292478-15292478
GRCh38: 19:15181667-15181667
34 NOTCH3 NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) SNV Likely pathogenic 447791 rs1555730189 GRCh37: 19:15308348-15308348
GRCh38: 19:15197537-15197537
35 NOTCH3 NM_000435.3(NOTCH3):c.752G>T (p.Cys251Phe) SNV Likely pathogenic 976176 GRCh37: 19:15302606-15302606
GRCh38: 19:15191795-15191795
36 NOTCH3 NM_000435.3(NOTCH3):c.463T>G (p.Cys155Gly) SNV Likely pathogenic 918003 GRCh37: 19:15302987-15302987
GRCh38: 19:15192176-15192176
37 NOTCH3 NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) SNV Likely pathogenic 447793 rs1555730188 GRCh37: 19:15308344-15308344
GRCh38: 19:15197533-15197533
38 NOTCH3 NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) SNV Likely pathogenic 810779 rs1599391536 GRCh37: 19:15299899-15299899
GRCh38: 19:15189088-15189088
39 NOTCH3 NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) SNV Likely pathogenic 546089 rs201118034 GRCh37: 19:15298126-15298126
GRCh38: 19:15187315-15187315
40 NOTCH3 NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) SNV Likely pathogenic 447778 rs1323608032 GRCh37: 19:15299920-15299920
GRCh38: 19:15189109-15189109
41 NOTCH3 NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) SNV Likely pathogenic 447832 rs1555727841 GRCh37: 19:15290914-15290914
GRCh38: 19:15180103-15180103
42 NOTCH3 NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) SNV Likely pathogenic 374637 rs777751303 GRCh37: 19:15297937-15297937
GRCh38: 19:15187126-15187126
43 NOTCH3 NM_000435.3(NOTCH3):c.555T>G (p.Cys185Trp) SNV Likely pathogenic 978700 GRCh37: 19:15302895-15302895
GRCh38: 19:15192084-15192084
44 NOTCH3 NM_000435.3(NOTCH3):c.382T>C (p.Cys128Arg) SNV Likely pathogenic 978701 GRCh37: 19:15303068-15303068
GRCh38: 19:15192257-15192257
45 NOTCH3 NM_000435.3(NOTCH3):c.3009G>C (p.Trp1003Cys) SNV Likely pathogenic 978702 GRCh37: 19:15291625-15291625
GRCh38: 19:15180814-15180814
46 NOTCH3 NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) SNV Conflicting interpretations of pathogenicity 216972 rs201680145 GRCh37: 19:15289863-15289863
GRCh38: 19:15179052-15179052
47 NOTCH3 NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) SNV Conflicting interpretations of pathogenicity 328393 rs55882518 GRCh37: 19:15289850-15289850
GRCh38: 19:15179039-15179039
48 NOTCH3 NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) SNV Conflicting interpretations of pathogenicity 447831 rs775836288 GRCh37: 19:15303200-15303200
GRCh38: 19:15192389-15192389
49 NOTCH3 NM_000435.3(NOTCH3):c.3751G>C (p.Glu1251Gln) SNV Uncertain significance 890261 GRCh37: 19:15289720-15289720
GRCh38: 19:15178909-15178909
50 NOTCH3 NM_000435.3(NOTCH3):c.5396G>A (p.Cys1799Tyr) SNV Uncertain significance 890210 GRCh37: 19:15276869-15276869
GRCh38: 19:15166058-15166058

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1:

72 (show top 50) (show all 109)
# Symbol AA change Variation ID SNP ID
1 NOTCH3 p.Cys49Tyr VAR_012871 rs193921045
2 NOTCH3 p.Trp71Cys VAR_012872 rs28937321
3 NOTCH3 p.Arg90Cys VAR_012873 rs155572960
4 NOTCH3 p.Arg110Cys VAR_012874 rs775836288
5 NOTCH3 p.Arg133Cys VAR_012876 rs137852642
6 NOTCH3 p.Arg141Cys VAR_012877 rs117462561
7 NOTCH3 p.Cys146Arg VAR_012878 rs155572951
8 NOTCH3 p.Arg153Cys VAR_012879 rs797045014
9 NOTCH3 p.Arg169Cys VAR_012880 rs28933696
10 NOTCH3 p.Gly171Cys VAR_012882
11 NOTCH3 p.Arg182Cys VAR_012883 rs28933697
12 NOTCH3 p.Cys185Arg VAR_012884 rs156836184
13 NOTCH3 p.Cys212Ser VAR_012885 rs155572945
14 NOTCH3 p.Cys222Gly VAR_012886
15 NOTCH3 p.Cys224Tyr VAR_012887 rs155572945
16 NOTCH3 p.Tyr258Cys VAR_012888 rs947976672
17 NOTCH3 p.Cys542Tyr VAR_012890
18 NOTCH3 p.Arg558Cys VAR_012891 rs75068032
19 NOTCH3 p.Arg578Cys VAR_012892 rs769773673
20 NOTCH3 p.Arg728Cys VAR_012893 rs105751910
21 NOTCH3 p.Arg985Cys VAR_012894 rs118856910
22 NOTCH3 p.Arg1006Cys VAR_012895 rs155572794
23 NOTCH3 p.Arg1031Cys VAR_012896 rs128558406
24 NOTCH3 p.Arg1231Cys VAR_012899 rs201680145
25 NOTCH3 p.Cys1261Arg VAR_012900
26 NOTCH3 p.Cys43Gly VAR_044230
27 NOTCH3 p.Cys49Phe VAR_044231 rs193921045
28 NOTCH3 p.Arg54Cys VAR_044232 rs155573018
29 NOTCH3 p.Ser60Cys VAR_044233
30 NOTCH3 p.Cys65Ser VAR_044234 rs155573017
31 NOTCH3 p.Cys67Tyr VAR_044235
32 NOTCH3 p.Cys76Arg VAR_044236 rs155572961
33 NOTCH3 p.Cys76Trp VAR_044237
34 NOTCH3 p.Cys87Arg VAR_044240 rs156836223
35 NOTCH3 p.Cys87Tyr VAR_044241
36 NOTCH3 p.Cys93Phe VAR_044242
37 NOTCH3 p.Cys93Tyr VAR_044243
38 NOTCH3 p.Cys106Trp VAR_044244
39 NOTCH3 p.Cys108Trp VAR_044245
40 NOTCH3 p.Cys108Tyr VAR_044246
41 NOTCH3 p.Cys117Phe VAR_044247 rs773539041
42 NOTCH3 p.Ser118Cys VAR_044248
43 NOTCH3 p.Cys123Phe VAR_044249
44 NOTCH3 p.Cys123Tyr VAR_044250
45 NOTCH3 p.Cys128Tyr VAR_044251
46 NOTCH3 p.Cys134Trp VAR_044252
47 NOTCH3 p.Phe142Cys VAR_044253
48 NOTCH3 p.Cys144Phe VAR_044254
49 NOTCH3 p.Cys144Ser VAR_044255
50 NOTCH3 p.Cys144Tyr VAR_044256 rs156836198

Expression for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

Search GEO for disease gene expression data for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1.

Pathways for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

Pathways related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.17 RBPJ NRP1 NOTCH4 NOTCH3 NOTCH2 NOTCH1
2
Show member pathways
13.77 RBPJ NRP1 NOTCH4 NOTCH3 NOTCH2 NOTCH1
3
Show member pathways
13.72 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
4
Show member pathways
13.25 NRP1 NOTCH4 NOTCH3 NOTCH2 NOTCH1 EGF
5
Show member pathways
13.05 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG1
6
Show member pathways
12.91 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
7
Show member pathways
12.81 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
8 12.76 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
9
Show member pathways
12.73 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
10
Show member pathways
12.65 RBPJ NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
11 12.62 NRP1 NOTCH4 NOTCH3 NOTCH2 NOTCH1 APOE
12 12.45 NOTCH4 NOTCH3 NOTCH2 NOTCH1
13
Show member pathways
12.41 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
14
Show member pathways
12.31 RBPJ NOTCH1 JAG2 JAG1 HEY1 DLL4
15
Show member pathways
12.21 RBPJ NOTCH2 NOTCH1 JAG2 JAG1 DLL4
16 12.14 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
17
Show member pathways
12.09 NOTCH4 NOTCH3 NOTCH2 NOTCH1
18
Show member pathways
12.07 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
19 12.05 NOTCH4 NOTCH3 NOTCH2 NOTCH1 ATP1A2
20 11.98 NOTCH4 NOTCH3 NOTCH2 NOTCH1
21 11.98 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 DLL4
22 11.97 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG1 DLL4
23 11.91 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
24 11.75 RBPJ NOTCH4 NOTCH2 NOTCH1 JAG1 DLL1
25 11.72 NOTCH2 NOTCH1 EGF
26 11.55 RBPJ NOTCH1 JAG2 JAG1
27 11.49 RBPJ NOTCH1 HEY1
28 11.47 RBPJ NOTCH1 DLL1
29 11.4 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
30 11.05 NOTCH1 JAG2 JAG1 DLL4 DLL3 DLL1
31 10.89 NOTCH1 JAG1
32 10.79 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
33 10.69 NOTCH1 DLL1

GO Terms for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

Cellular components related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 NRP1 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
2 cell surface GO:0009986 9.72 NRP1 NOTCH4 NOTCH3 NOTCH2 NOTCH1
3 receptor complex GO:0043235 9.56 NRP1 NOTCH3 NOTCH2 NOTCH1
4 extracellular region GO:0005576 9.4 SERPINA3 NRP1 NOTCH4 NOTCH3 NOTCH2 NOTCH1
5 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.96 RBPJ NOTCH1

Biological processes related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.3 SRRT RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.22 RBPJ NOTCH4 NOTCH2 NOTCH1 HEY1 DLL4
3 cell differentiation GO:0030154 10.22 NRP1 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
4 positive regulation of cell proliferation GO:0008284 10.15 RBPJ NOTCH2 NOTCH1 EGF DLL1
5 positive regulation of gene expression GO:0010628 10.14 RBPJ NOTCH1 HEY1 EGF DLL4 DLL1
6 multicellular organism development GO:0007275 10.14 NRP1 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2
7 negative regulation of gene expression GO:0010629 10.06 NOTCH2 NOTCH1 DLL4 APOE
8 axon guidance GO:0007411 10.03 NRP1 NOTCH3 NOTCH2 NOTCH1
9 regulation of cell proliferation GO:0042127 10.03 RBPJ NOTCH1 JAG2 JAG1
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.03 NRP1 NOTCH2 NOTCH1 CFLAR APOE
11 transcription initiation from RNA polymerase II promoter GO:0006367 10.03 RBPJ NOTCH4 NOTCH3 NOTCH2 NOTCH1
12 hemopoiesis GO:0030097 9.95 RBPJ NOTCH4 NOTCH2 JAG1 DLL1
13 wound healing GO:0042060 9.93 NOTCH4 NOTCH2 CFLAR
14 angiogenesis GO:0001525 9.92 RBPJ NRP1 NOTCH1 JAG1 HEY1 EGF
15 determination of left/right symmetry GO:0007368 9.91 NOTCH2 NOTCH1 DLL1
16 negative regulation of neuron differentiation GO:0045665 9.91 NOTCH1 JAG1 HEY1 DLL1
17 heart looping GO:0001947 9.9 NOTCH2 NOTCH1 DLL1
18 cell communication GO:0007154 9.9 JAG2 JAG1 DLL4 DLL1
19 keratinocyte differentiation GO:0030216 9.89 RBPJ NOTCH1 JAG1
20 humoral immune response GO:0006959 9.89 RBPJ NOTCH2 NOTCH1
21 somitogenesis GO:0001756 9.88 RBPJ DLL3 DLL1
22 epithelial to mesenchymal transition GO:0001837 9.88 RBPJ NOTCH4 NOTCH1
23 regulation of neurogenesis GO:0050767 9.88 NOTCH1 HEY1 DLL4 DLL1
24 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.87 NRP1 NOTCH1 DLL4
25 positive regulation of BMP signaling pathway GO:0030513 9.86 RBPJ NOTCH2 NOTCH1
26 blood vessel remodeling GO:0001974 9.86 RBPJ JAG1 DLL4
27 branching involved in blood vessel morphogenesis GO:0001569 9.86 NRP1 NOTCH4 DLL4 COL4A1
28 ventricular septum morphogenesis GO:0060412 9.85 RBPJ NOTCH1 HEY1
29 negative regulation of cell differentiation GO:0045596 9.85 RBPJ NOTCH4 NOTCH1 JAG1 DLL1
30 aortic valve morphogenesis GO:0003180 9.84 NOTCH1 JAG1 DLL4
31 artery morphogenesis GO:0048844 9.82 RBPJ NRP1 APOE
32 inflammatory response to antigenic stimulus GO:0002437 9.81 RBPJ NOTCH2 NOTCH1
33 neuronal stem cell population maintenance GO:0097150 9.81 SRRT NOTCH1 JAG1 DLL1
34 cardiac septum morphogenesis GO:0060411 9.8 NOTCH1 JAG1 HEY1
35 cell fate determination GO:0001709 9.8 NOTCH4 NOTCH2 JAG1 DLL1
36 left/right axis specification GO:0070986 9.79 NOTCH2 NOTCH1 DLL1
37 ventricular trabecula myocardium morphogenesis GO:0003222 9.79 RBPJ NOTCH1 DLL4
38 positive regulation of transcription of Notch receptor target GO:0007221 9.78 RBPJ NOTCH4 NOTCH3 NOTCH1
39 cardiac ventricle morphogenesis GO:0003208 9.77 NOTCH1 HEY1 DLL4
40 negative regulation of Notch signaling pathway GO:0045746 9.77 NOTCH3 HEY1 EGF DLL4 DLL1
41 labyrinthine layer blood vessel development GO:0060716 9.76 RBPJ HEY1
42 endocardial cushion morphogenesis GO:0003203 9.76 NOTCH1 HEY1
43 negative regulation of cell adhesion molecule production GO:0060354 9.76 NOTCH4 NOTCH1
44 dorsal aorta morphogenesis GO:0035912 9.76 RBPJ HEY1 DLL4
45 negative regulation of stem cell differentiation GO:2000737 9.75 NOTCH1 JAG1
46 circulatory system development GO:0072359 9.75 HEY1 APOE
47 endothelial cell differentiation GO:0045446 9.75 NOTCH4 JAG1
48 locomotory exploration behavior GO:0035641 9.75 ATP1A2 APOE
49 cardiac epithelial to mesenchymal transition GO:0060317 9.75 NOTCH1 HEY1
50 nephron development GO:0072006 9.75 JAG1 DLL1

Molecular functions related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 SRRT SERPINA3 RBPJ NRP1 NOTCH4 NOTCH3
2 calcium ion binding GO:0005509 9.65 NOTCH4 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
3 signaling receptor activity GO:0038023 9.46 NOTCH4 NOTCH3 NOTCH2 NOTCH1
4 Notch binding GO:0005112 9.17 NOTCH4 NOTCH1 JAG2 JAG1 DLL4 DLL3

Sources for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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