CADASIL1
MCID: CRB175
MIFTS: 66

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Mental diseases, Skin 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 24 53 25 54 59 75 55 44 15
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 12 76 53 25 59 29 6
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 53 25 13
Familial Vascular Leukoencephalopathy 53 25 73
Casil 57 53 75
Dementia, Hereditary Multi-Infarct Type 57 53
Hereditary Multi-Infarct Dementia 12 59
Cadasil Syndrome 76 73
Cadasil1 57 75
Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Type 1 12
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 1 75
Arteriopathy, Cerebral, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy 40
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Autosomal Dominant 75
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarctsleukoencephalopathy 24
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 57
Hereditary Dementia, Multi-Infarct Type 25
Dementia Hereditary Multi-Infarct Type 75
Cadasil 1 12

Characteristics:

Orphanet epidemiological data:

59
cadasil
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
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:

32
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


GeneReviews:

24
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:



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

NINDS : 54 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.

MalaCards based summary : Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1, also known as cadasil, is related to brain small vessel disease with or without ocular anomalies and cerebritis. An important gene associated with Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 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 smooth muscle, and related phenotypes are sensorineural hearing impairment and visual impairment

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)

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Genetics Home Reference : 25 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).

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

Wikipedia : 76 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 all 37)
# Related Disease Score Top Affiliating Genes
1 brain small vessel disease with or without ocular anomalies 11.3
2 cerebritis 11.2
3 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 11.0
4 arteries, anomalies of 10.6
5 peripheral artery disease 10.5
6 factor xii deficiency 10.4
7 retinitis 10.4
8 atypical choroid plexus papilloma 10.3 NOTCH3 NOTCH4
9 lung adenoma 10.3 NOTCH1 NOTCH3
10 nodular regenerative hyperplasia 10.3 JAG1 NOTCH1
11 alzheimer disease 10.2
12 multiple sclerosis 10.2
13 myocardial infarction 10.2
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
15 coronary artery anomaly 10.2
16 familial hemiplegic migraine 10.2
17 sensorineural hearing loss 10.2
18 dementia 10.2
19 periodontal disease 10.2
20 periodontitis 10.2
21 vascular dementia 10.2
22 hemiplegic migraine 10.2
23 primary angiitis of the central nervous system 10.2
24 sudden sensorineural hearing loss 10.2
25 depression 10.2
26 headache 10.2
27 alagille syndrome 1 10.2 JAG1 NOTCH1
28 tricuspid valve stenosis 10.1 JAG1 NOTCH1
29 venous malformations, multiple cutaneous and mucosal 10.1 NOTCH3 NOTCH4
30 spinal cord ependymoma 10.1 JAG1 NOTCH1
31 ossifying fibroma 9.9 JAG1 NOTCH1 NOTCH3
32 chorioretinal scar 9.9 NOTCH1 NOTCH3 NOTCH4
33 pseudobulbar palsy 9.7 HTRA1 NOTCH3 NOTCH4
34 adams-oliver syndrome 9.6 EGF NOTCH1
35 hajdu-cheney syndrome 9.5 JAG1 NOTCH1 NOTCH3 NOTCH4
36 cholangiocarcinoma 9.2 CFLAR EGF NOTCH1
37 cerebral degeneration 8.7 HTRA1 NOTCH3 NOTCH4 TREX1

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...

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Bladder:
urinary incontinence

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

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
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

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

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
2 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
3 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
4 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
5 sensory neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000763
6 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
7 retinal arteriolar tortuosity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001136
8 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
10 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
11 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
12 confusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0001289
13 subcutaneous hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0001933
14 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
15 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
16 abnormality of extrapyramidal motor function 59 32 occasional (7.5%) Occasional (29-5%) HP:0002071
17 migraine 59 32 hallmark (90%) Very frequent (99-80%) HP:0002076
18 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
19 hemiplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002301
20 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
21 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
22 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
23 aphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002381
24 varicose veins 59 32 occasional (7.5%) Occasional (29-5%) HP:0002619
25 atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002621
26 cerebral ischemia 59 32 frequent (33%) Frequent (79-30%) HP:0002637
27 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
28 recurrent pneumonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006532
29 cranial nerve paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0006824
30 impaired pain sensation 59 32 frequent (33%) Frequent (79-30%) HP:0007328
31 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
32 subdural hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0100309
33 amaurosis fugax 59 32 hallmark (90%) Very frequent (99-80%) HP:0100576
34 hearing impairment 59 Occasional (29-5%)
35 hypertonia 59 Frequent (79-30%)
36 headache 59 Very frequent (99-80%)
37 abnormality of nervous system morphology 59 Very frequent (99-80%)
38 urinary incontinence 32 HP:0000020
39 abnormal electroretinogram 32 HP:0000512
40 visual loss 32 occasional (7.5%) HP:0000572
41 abnormality of visual evoked potentials 32 HP:0000649
42 behavioral abnormality 32 very rare (1%) HP:0000708
43 abnormality of the skin 32 HP:0000951
44 stroke 32 HP:0001297
45 leukoencephalopathy 32 HP:0002352
46 pseudobulbar paralysis 32 HP:0007024
47 subcortical dementia 32 HP:0007123
48 recurrent subcortical infarcts 32 HP:0007236
49 nonarteritic anterior ischemic optic neuropathy 32 HP:0007634

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 CFLAR COL4A1 HTRA1 JAG1 NOTCH1 NOTCH3
2 growth/size/body region MP:0005378 9.97 CFLAR COL4A1 EGF HTRA1 JAG1 NOTCH1
3 embryo MP:0005380 9.91 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 NOTCH4
4 endocrine/exocrine gland MP:0005379 9.88 CFLAR EGF JAG1 NOTCH1 NOTCH3 TREX1
5 homeostasis/metabolism MP:0005376 9.87 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 NOTCH4
6 integument MP:0010771 9.65 NOTCH1 NOTCH3 TREX1 EGF JAG1
7 muscle MP:0005369 9.63 JAG1 NOTCH1 NOTCH3 TREX1 CFLAR COL4A1
8 renal/urinary system MP:0005367 9.35 COL4A1 JAG1 NOTCH1 NOTCH3 TREX1
9 vision/eye MP:0005391 9.23 COL4A1 EGF HTRA1 JAG1 NOTCH1 NOTCH3

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 41)
# 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
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
13
Atenolol Approved Phase 3 29122-68-7 2249
14
Losartan Approved Phase 3 114798-26-4 3961
15 Neurotransmitter Agents Phase 3,Phase 2
16 Adrenergic Agents Phase 3
17 Adrenergic Antagonists Phase 3
18 Adrenergic beta-1 Receptor Antagonists Phase 3
19 Adrenergic beta-Antagonists Phase 3
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
Serine Approved, Nutraceutical Phase 2 56-45-1 5951
32 Anticoagulants Phase 2
33 Antithrombin III Phase 2
34 Antithrombins Phase 2
35 Dabigatran Phase 2
36 HIV Protease Inhibitors Phase 2
37
protease inhibitors Phase 2
38 Serine Proteinase Inhibitors Phase 2
39 Cholinergic Agents Phase 2
40 Cholinesterase Inhibitors Phase 2
41 Nootropic Agents Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Efficacy of Pain Treatment on Depression in Patients With Dementia Completed NCT02267057 Phase 4 Paracetamol;Buprenorphine;Paracetamol placebo;Buprenorphine placebo
2 Effects of Amlodipine and Other Blood Pressure Lowering Agents on Microvascular Function Recruiting NCT03082014 Phase 3 Amlodipine;Losartan;Atenolol
3 Safety Study of Dabigatran in CADASIL Unknown status NCT01361763 Phase 2 Dabigatran;Antiplatelets
4 The Efficacy, Safety, And Tolerability Of Donepezil HCl (E2020) In Patients With CADASIL Who Have Cognitive Impairment Completed NCT00103948 Phase 2 Aricept
5 Imaging Study of Neurovascular Coupling in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Unknown status NCT02071784
6 Retinal Nerve Fiber Layer Thickness Changes in Migraine: A Meta-Analysis of Case-control Studies Unknown status NCT02196532
7 Secondary Prevention of Stroke Through Non-drug Therapeutic Weight Reduction Unknown status NCT01721538 Not Applicable
8 Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) 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 Not Applicable
11 Retinal Nerve Fiber Layer Thickness Changes in Parkinson Disease: A Meta-analysis Completed NCT01928212
12 Identification of Biomarkers Sensitive to Disease Progression in Patients With Mild Cognitive Impairment Completed NCT01425957 Not Applicable
13 CADASIL Disease Discovery Recruiting NCT02821780
14 Generation of a Cellular Model of CADASIL From Skin Fibroblasts Enrolling by invitation NCT02032225

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

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:

41
Brain, Heart, Smooth Muscle, Lung, Testes, Skin, Temporal Lobe

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 103)
# Title Authors Year
1
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy with a Novel NOTCH3 Cys323Trp Mutation Presenting Border-Zone Infarcts: A Case Report and Literature Review. ( 27241575 )
2016
2
Managing Depression in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Case Report. ( 27828708 )
2016
3
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina. ( 26352492 )
2015
4
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) - literature review apropos an autopsy case. ( 26619111 )
2015
5
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China. ( 25105908 )
2015
6
A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in which lomerizine hydrochloride was suggested to prevent recurrent stroke. ( 24429644 )
2014
7
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) associated with a Novel C82R Mutation in the NOTCH3 Gene. ( 25096610 )
2014
8
Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. ( 24139282 )
2014
9
Letter by Pescini et al regarding article, "Peripheral artery disease as a manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and practical implications". ( 24146127 )
2013
10
The first Indian-origin family with genetically proven cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 21737310 )
2013
11
Response to Letters regarding article, "Peripheral artery disease as a manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and practical implications". ( 24146129 )
2013
12
Peripheral artery disease as a manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and practical implications. ( 23630088 )
2013
13
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). ( 23556034 )
2013
14
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in two siblings with neuropsychiatric symptoms. ( 23414846 )
2013
15
Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old. ( 23460375 )
2013
16
Letter by Dichgans et al regarding article, "Peripheral artery disease as a manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and practical implications". ( 24146128 )
2013
17
Residents' corner July 2012. (Carpe)DIEM--Dermatological Indications for Electron Microscopy: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 22889963 )
2012
18
An unusual case of elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with multiple cerebrovascular risk factors. ( 20851625 )
2012
19
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 22664156 )
2012
20
Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up. ( 22936449 )
2012
21
The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis. ( 22996955 )
2012
22
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy affecting an African American man: identification of a novel 15-base pair NOTCH3 duplication. ( 22159056 )
2011
23
CADASIL - Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. ( 21969905 )
2011
24
Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. ( 21940951 )
2011
25
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease. ( 20386637 )
2010
26
Acute headache followed by focal neuropsychological impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 20123231 )
2010
27
Nerve conduction studies in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. ( 19488673 )
2009
28
[Periodontal disease as an early clinical sign of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. ( 19859875 )
2009
29
[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. ( 19363995 )
2009
30
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male. ( 19207299 )
2009
31
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. ( 20043377 )
2009
32
High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 19576955 )
2009
33
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka. ( 19683925 )
2009
34
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. ( 19934572 )
2009
35
Plasma levels of asymmetric dimethylarginine in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy. ( 18984949 )
2008
36
Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit? ( 18572291 )
2008
37
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: progression of MR abnormalities in prospective 7-year follow-up study. ( 18840792 )
2008
38
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Arabs. ( 18626519 )
2008
39
A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. ( 16949066 )
2007
40
Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 17390743 )
2007
41
Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 17729386 )
2007
42
Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 17218610 )
2007
43
Electrocardiogram in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients without any clinical evidence of coronary artery disease: a case-control study. ( 16514092 )
2006
44
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): a proteiform neurological disease of expanding importance. Reasons for establishing an Italian Registry. ( 17122937 )
2006
45
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. ( 16833034 )
2006
46
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese. ( 16580020 )
2006
47
Multiple teeth extractions in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), treated with ticlopidine. ( 16360869 )
2006
48
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: structural MR imaging changes and apolipoprotein E genotype. ( 16484411 )
2006
49
Cerebrovascular reactivity and dynamic autoregulation in nondemented patients with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). ( 15729521 )
2005
50
The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis. ( 16302168 )
2005

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

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

75 (show top 50) (show all 109)
# Symbol AA change Variation ID SNP ID
1 NOTCH3 p.Cys49Tyr VAR_012871
2 NOTCH3 p.Trp71Cys VAR_012872 rs28937321
3 NOTCH3 p.Arg90Cys VAR_012873
4 NOTCH3 p.Arg110Cys VAR_012874
5 NOTCH3 p.Arg133Cys VAR_012876 rs137852642
6 NOTCH3 p.Arg141Cys VAR_012877
7 NOTCH3 p.Cys146Arg VAR_012878
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
13 NOTCH3 p.Cys212Ser VAR_012885
14 NOTCH3 p.Cys222Gly VAR_012886
15 NOTCH3 p.Cys224Tyr VAR_012887
16 NOTCH3 p.Tyr258Cys VAR_012888
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 rs1057519101Cerebral
21 NOTCH3 p.Arg985Cys VAR_012894
22 NOTCH3 p.Arg1006Cys VAR_012895
23 NOTCH3 p.Arg1031Cys VAR_012896
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
29 NOTCH3 p.Ser60Cys VAR_044233
30 NOTCH3 p.Cys65Ser VAR_044234
31 NOTCH3 p.Cys67Tyr VAR_044235
32 NOTCH3 p.Cys76Arg VAR_044236
33 NOTCH3 p.Cys76Trp VAR_044237
34 NOTCH3 p.Cys87Arg VAR_044240
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

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

6
(show top 50) (show all 226)
# 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.213G> T (p.Trp71Cys) single nucleotide variant Pathogenic rs28937321 GRCh38 Chromosome 19, 15192504: 15192504
3 NOTCH3 NM_000435.2(NOTCH3): c.505C> T (p.Arg169Cys) single nucleotide variant Pathogenic rs28933696 GRCh37 Chromosome 19, 15302945: 15302945
4 NOTCH3 NM_000435.2(NOTCH3): c.505C> T (p.Arg169Cys) single nucleotide variant Pathogenic rs28933696 GRCh38 Chromosome 19, 15192134: 15192134
5 NOTCH3 NM_000435.2(NOTCH3): c.544C> T (p.Arg182Cys) single nucleotide variant Pathogenic rs28933697 GRCh37 Chromosome 19, 15302906: 15302906
6 NOTCH3 NM_000435.2(NOTCH3): c.544C> T (p.Arg182Cys) single nucleotide variant Pathogenic rs28933697 GRCh38 Chromosome 19, 15192095: 15192095
7 NOTCH3 NM_000435.2(NOTCH3): c.187G> A (p.Ala63Thr) single nucleotide variant Pathogenic rs864621964 GRCh37 Chromosome 19, 15308321: 15308321
8 NOTCH3 NM_000435.2(NOTCH3): c.187G> A (p.Ala63Thr) single nucleotide variant Pathogenic rs864621964 GRCh38 Chromosome 19, 15197510: 15197510
9 NOTCH3 NM_000435.2(NOTCH3): c.714_758del45 (p.Asp239_Asp253del) deletion Pathogenic rs864621965 GRCh38 Chromosome 19, 15191789: 15191833
10 NOTCH3 NM_000435.2(NOTCH3): c.714_758del45 (p.Asp239_Asp253del) deletion Pathogenic rs864621965 GRCh37 Chromosome 19, 15302600: 15302644
11 NOTCH3 NM_000435.2(NOTCH3): c.1363T> C (p.Cys455Arg) single nucleotide variant Pathogenic rs28933698 GRCh37 Chromosome 19, 15299815: 15299815
12 NOTCH3 NM_000435.2(NOTCH3): c.1363T> C (p.Cys455Arg) single nucleotide variant Pathogenic rs28933698 GRCh38 Chromosome 19, 15189004: 15189004
13 NOTCH3 NM_000435.2(NOTCH3): c.994C> T (p.Arg332Cys) single nucleotide variant Pathogenic rs137852641 GRCh37 Chromosome 19, 15302277: 15302277
14 NOTCH3 NM_000435.2(NOTCH3): c.994C> T (p.Arg332Cys) single nucleotide variant Pathogenic rs137852641 GRCh38 Chromosome 19, 15191466: 15191466
15 NOTCH3 NM_000435.2(NOTCH3): c.397C> T (p.Arg133Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852642 GRCh37 Chromosome 19, 15303053: 15303053
16 NOTCH3 NM_000435.2(NOTCH3): c.397C> T (p.Arg133Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852642 GRCh38 Chromosome 19, 15192242: 15192242
17 NOTCH3 NM_000435.2(NOTCH3): c.2411_2566del156 single nucleotide variant Pathogenic rs864621966 GRCh37 Chromosome 19, 15295262: 15295262
18 NOTCH3 NM_000435.2(NOTCH3): c.2411_2566del156 single nucleotide variant Pathogenic rs864621966 GRCh38 Chromosome 19, 15184451: 15184451
19 NOTCH3 NM_000435.2(NOTCH3): c.1282T> A (p.Cys428Ser) single nucleotide variant Pathogenic rs267606915 GRCh37 Chromosome 19, 15299896: 15299896
20 NOTCH3 NM_000435.2(NOTCH3): c.1282T> A (p.Cys428Ser) single nucleotide variant Pathogenic rs267606915 GRCh38 Chromosome 19, 15189085: 15189085
21 NOTCH3 NM_000435.2(NOTCH3): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs797045014 GRCh38 Chromosome 19, 15192182: 15192182
22 NOTCH3 NM_000435.2(NOTCH3): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs797045014 GRCh37 Chromosome 19, 15302993: 15302993
23 NOTCH3 NM_000435.2(NOTCH3): c.3691C> T (p.Arg1231Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201680145 GRCh38 Chromosome 19, 15179052: 15179052
24 NOTCH3 NM_000435.2(NOTCH3): c.3691C> T (p.Arg1231Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201680145 GRCh37 Chromosome 19, 15289863: 15289863
25 NOTCH3 NM_000435.2(NOTCH3): c.1187C> G (p.Ser396Cys) single nucleotide variant Pathogenic rs863225297 GRCh37 Chromosome 19, 15300089: 15300089
26 NOTCH3 NM_000435.2(NOTCH3): c.1187C> G (p.Ser396Cys) single nucleotide variant Pathogenic rs863225297 GRCh38 Chromosome 19, 15189278: 15189278
27 NOTCH3 NM_000435.2(NOTCH3): c.6813T> C (p.Pro2271=) single nucleotide variant Benign/Likely benign rs61731974 GRCh38 Chromosome 19, 15160815: 15160815
28 NOTCH3 NM_000435.2(NOTCH3): c.6813T> C (p.Pro2271=) single nucleotide variant Benign/Likely benign rs61731974 GRCh37 Chromosome 19, 15271626: 15271626
29 NOTCH3 NM_000435.2(NOTCH3): c.6753C> T (p.Ser2251=) single nucleotide variant Benign rs61731975 GRCh38 Chromosome 19, 15160875: 15160875
30 NOTCH3 NM_000435.2(NOTCH3): c.6753C> T (p.Ser2251=) single nucleotide variant Benign rs61731975 GRCh37 Chromosome 19, 15271686: 15271686
31 NOTCH3 NM_000435.2(NOTCH3): c.6668C> T (p.Ala2223Val) single nucleotide variant Benign rs1044009 GRCh38 Chromosome 19, 15160960: 15160960
32 NOTCH3 NM_000435.2(NOTCH3): c.6668C> T (p.Ala2223Val) single nucleotide variant Benign rs1044009 GRCh37 Chromosome 19, 15271771: 15271771
33 NOTCH3 NM_000435.2(NOTCH3): c.6438G> A (p.Ala2146=) single nucleotide variant Benign rs1044008 GRCh38 Chromosome 19, 15161190: 15161190
34 NOTCH3 NM_000435.2(NOTCH3): c.6438G> A (p.Ala2146=) single nucleotide variant Benign rs1044008 GRCh37 Chromosome 19, 15272001: 15272001
35 NOTCH3 NM_000435.2(NOTCH3): c.6221C> T (p.Pro2074Leu) single nucleotide variant Benign rs114447350 GRCh38 Chromosome 19, 15161407: 15161407
36 NOTCH3 NM_000435.2(NOTCH3): c.6221C> T (p.Pro2074Leu) single nucleotide variant Benign rs114447350 GRCh37 Chromosome 19, 15272218: 15272218
37 NOTCH3 NM_000435.2(NOTCH3): c.6102C> T (p.Pro2034=) single nucleotide variant Benign rs114887570 GRCh37 Chromosome 19, 15272337: 15272337
38 NOTCH3 NM_000435.2(NOTCH3): c.6102C> T (p.Pro2034=) single nucleotide variant Benign rs114887570 GRCh38 Chromosome 19, 15161526: 15161526
39 NOTCH3 NM_000435.2(NOTCH3): c.6031G> A (p.Val2011Ile) single nucleotide variant Likely benign rs142007575 GRCh38 Chromosome 19, 15161597: 15161597
40 NOTCH3 NM_000435.2(NOTCH3): c.6031G> A (p.Val2011Ile) single nucleotide variant Likely benign rs142007575 GRCh37 Chromosome 19, 15272408: 15272408
41 NOTCH3 NM_000435.2(NOTCH3): c.5854G> A (p.Val1952Met) single nucleotide variant Benign/Likely benign rs115582213 GRCh38 Chromosome 19, 15162524: 15162524
42 NOTCH3 NM_000435.2(NOTCH3): c.5854G> A (p.Val1952Met) single nucleotide variant Benign/Likely benign rs115582213 GRCh37 Chromosome 19, 15273335: 15273335
43 NOTCH3 NM_000435.2(NOTCH3): c.5816-8T> C single nucleotide variant Benign rs4809030 GRCh38 Chromosome 19, 15162570: 15162570
44 NOTCH3 NM_000435.2(NOTCH3): c.5816-8T> C single nucleotide variant Benign rs4809030 GRCh37 Chromosome 19, 15273381: 15273381
45 NOTCH3 NM_000435.2(NOTCH3): c.5526T> C (p.Ala1842=) single nucleotide variant Benign rs16980398 GRCh38 Chromosome 19, 15165928: 15165928
46 NOTCH3 NM_000435.2(NOTCH3): c.5526T> C (p.Ala1842=) single nucleotide variant Benign rs16980398 GRCh37 Chromosome 19, 15276739: 15276739
47 NOTCH3 NM_000435.2(NOTCH3): c.5400G> T (p.Gly1800=) single nucleotide variant Likely benign rs34480308 GRCh38 Chromosome 19, 15166054: 15166054
48 NOTCH3 NM_000435.2(NOTCH3): c.5400G> T (p.Gly1800=) single nucleotide variant Likely benign rs34480308 GRCh37 Chromosome 19, 15276865: 15276865
49 NOTCH3 NM_000435.2(NOTCH3): c.5370C> T (p.Phe1790=) single nucleotide variant Benign/Likely benign rs35887416 GRCh38 Chromosome 19, 15166084: 15166084
50 NOTCH3 NM_000435.2(NOTCH3): c.5370C> T (p.Phe1790=) single nucleotide variant Benign/Likely benign rs35887416 GRCh37 Chromosome 19, 15276895: 15276895

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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 CFLAR COL4A1 EGF NOTCH1 NOTCH3 NOTCH4
2
Show member pathways
12.61 JAG1 NOTCH1 NOTCH3 NOTCH4
3
Show member pathways
12.56 COL4A1 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
4
Show member pathways
12.44 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
5
Show member pathways
12.39 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
6 12.33 NOTCH1 NOTCH3 NOTCH4
7
Show member pathways
12.27 JAG1 NOTCH1 NOTCH3 NOTCH4
8 12.26 NOTCH1 NOTCH3 NOTCH4
9
Show member pathways
12.18 JAG1 NOTCH1 NOTCH3
10 12.15 COL4A1 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
11 11.97 JAG1 NOTCH1 NOTCH3 NOTCH4
12
Show member pathways
11.88 NOTCH1 NOTCH3 NOTCH4
13 11.85 NOTCH1 NOTCH3 NOTCH4
14
Show member pathways
11.79 NOTCH1 NOTCH3 NOTCH4
15 11.74 NOTCH1 NOTCH3 NOTCH4
16 11.72 NOTCH1 NOTCH3 NOTCH4
17 11.64 NOTCH1 NOTCH3 NOTCH4
18 11.41 JAG1 NOTCH1 NOTCH3 NOTCH4
19 11.28 EGF NOTCH1
20 11.25 JAG1 NOTCH1
21 11.12 NOTCH1 NOTCH4
22 10.81 JAG1 NOTCH1
23 10.78 JAG1 NOTCH1
24 10.36 JAG1 NOTCH1 NOTCH3 NOTCH4

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 endoplasmic reticulum membrane GO:0005789 9.46 NOTCH1 NOTCH3 NOTCH4 TREX1
2 extracellular region GO:0005576 9.17 COL4A1 EGF HTRA1 JAG1 NOTCH1 NOTCH3
3 receptor complex GO:0043235 9.13 EGF NOTCH1 NOTCH3

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.78 EGF JAG1 NOTCH1
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.75 NOTCH1 NOTCH3 NOTCH4
3 positive regulation of epithelial cell proliferation GO:0050679 9.63 HTRA1 NOTCH1
4 negative regulation of BMP signaling pathway GO:0030514 9.62 HTRA1 NOTCH1
5 positive regulation of Notch signaling pathway GO:0045747 9.62 JAG1 NOTCH1
6 negative regulation of Notch signaling pathway GO:0045746 9.61 EGF NOTCH3
7 branching involved in blood vessel morphogenesis GO:0001569 9.6 COL4A1 NOTCH4
8 branching morphogenesis of an epithelial tube GO:0048754 9.59 EGF NOTCH1
9 neuron fate commitment GO:0048663 9.58 NOTCH1 NOTCH3
10 neuronal stem cell population maintenance GO:0097150 9.57 JAG1 NOTCH1
11 cell fate determination GO:0001709 9.56 JAG1 NOTCH4
12 Notch signaling pathway GO:0007219 9.56 JAG1 NOTCH1 NOTCH3 NOTCH4
13 Notch receptor processing GO:0007220 9.55 JAG1 NOTCH4
14 negative regulation of stem cell differentiation GO:2000737 9.54 JAG1 NOTCH1
15 negative regulation of neuron differentiation GO:0045665 9.54 JAG1 NOTCH1 NOTCH3
16 Notch receptor processing, ligand-dependent GO:0035333 9.52 JAG1 NOTCH3
17 response to muramyl dipeptide GO:0032495 9.51 JAG1 NOTCH1
18 endothelial cell differentiation GO:0045446 9.49 JAG1 NOTCH4
19 cardiac septum morphogenesis GO:0060411 9.48 JAG1 NOTCH1
20 pulmonary valve morphogenesis GO:0003184 9.46 JAG1 NOTCH1
21 Notch signaling involved in heart development GO:0061314 9.43 JAG1 NOTCH1
22 negative regulation of endothelial cell differentiation GO:0045602 9.4 JAG1 NOTCH4
23 positive regulation of transcription of Notch receptor target GO:0007221 9.33 NOTCH1 NOTCH3 NOTCH4
24 distal tubule development GO:0072017 9.32 JAG1 NOTCH1
25 negative regulation of cell differentiation GO:0045596 9.26 JAG1 NOTCH1 NOTCH3 NOTCH4
26 regulation of developmental process GO:0050793 8.8 NOTCH1 NOTCH3 NOTCH4

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 calcium ion binding GO:0005509 9.02 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
2 Notch binding GO:0005112 8.96 JAG1 NOTCH1

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

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