CADASIL1
MCID: CRB175
MIFTS: 69

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

Categories: 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 58
Cadasil 58 12 25 54 26 55 60 76 56 45 15
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 12 77 54 26 60 30 6
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 54 26 13
Familial Vascular Leukoencephalopathy 54 26 74
Casil 58 54 76
Dementia, Hereditary Multi-Infarct Type 58 54
Hereditary Multi-Infarct Dementia 12 60
Cadasil Syndrome 77 74
Cadasil1 58 76
Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Type 1 12
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 1 76
Arteriopathy, Cerebral, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy 41
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Autosomal Dominant 76
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarctsleukoencephalopathy 25
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 58
Hereditary Dementia, Multi-Infarct Type 26
Dementia Hereditary Multi-Infarct Type 76
Cadasil 1 12

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



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

NINDS : 55 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 col4a1-related familial vascular leukoencephalopathy and cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy. 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 NOTCH1 and Gastric cancer. 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 depressivity and developmental regression

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

Genetics Home Reference : 26 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).

NIH Rare Diseases : 54 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 : 58 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 : 76 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 : 77 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 86)
# Related Disease Score Top Affiliating Genes
1 col4a1-related familial vascular leukoencephalopathy 12.4
2 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 11.6
3 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 11.2
4 factor xii deficiency 10.5
5 dementia 10.5
6 migraine with or without aura 1 10.4
7 coronary artery anomaly 10.4
8 ischemic optic neuropathy 10.4
9 optic nerve disease 10.4
10 vascular dementia 10.3
11 encephalopathy 10.3
12 multiple sclerosis 10.2
13 nodular regenerative hyperplasia 10.1 NOTCH1 JAG1
14 depression 10.1
15 chorioretinal scar 10.1 NOTCH3 NOTCH1
16 pseudobulbar palsy 10.1 NOTCH3 HTRA1
17 lung adenoma 10.1 NOTCH3 NOTCH1
18 arteries, anomalies of 10.1
19 hemorrhage, intracerebral 10.1
20 peripheral artery disease 10.1
21 status epilepticus 10.1
22 hemiplegic migraine 10.1
23 headache 10.1
24 tricuspid valve stenosis 10.1 NOTCH1 JAG1
25 ossifying fibroma 10.1 JAG1 NOTCH1 NOTCH3
26 alzheimer disease 10.0
27 familial hemiplegic migraine 10.0
28 migraine with aura 10.0
29 tympanic membrane disease 10.0 COL4A1 NOTCH1
30 granulomatous angiitis 10.0 EGF JAG1 NOTCH1
31 bipolar disorder 9.9
32 vascular disease 9.9
33 epilepsy 9.9
34 peripheral nervous system disease 9.9
35 cerebrovascular disease 9.9
36 neuropathy 9.9
37 binswanger's disease 9.9
38 oliver syndrome 9.9 RBPJ NOTCH1
39 dowling-degos disease 9.9 NOTCH1 EGF
40 cerebral degeneration 9.9 HTRA1 NOTCH3 TREX1
41 cerebral amyloid angiopathy, cst3-related 9.8
42 amyotrophic lateral sclerosis 1 9.8
43 multiple system atrophy 1 9.8
44 myotonic dystrophy 1 9.8
45 schizophrenia 9.8
46 varicose veins 9.8
47 vasculopathy, retinal, with cerebral leukodystrophy 9.8
48 fabry disease 9.8
49 frontotemporal dementia 9.8
50 supranuclear palsy, progressive, 1 9.8

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:

60 33 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000716
2 developmental regression 60 33 hallmark (90%) Very frequent (99-80%) HP:0002376
3 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
4 sensory neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000763
5 migraine 60 33 hallmark (90%) Very frequent (99-80%) HP:0002076
6 aphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002381
7 amaurosis fugax 60 33 hallmark (90%) Very frequent (99-80%) HP:0100576
8 dementia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000726
9 coma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001259
10 retinal arteriolar tortuosity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001136
11 hemiplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002301
12 confusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0001289
13 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
14 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
15 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
16 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
17 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
18 cranial nerve paralysis 60 33 frequent (33%) Frequent (79-30%) HP:0006824
19 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
20 memory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002354
21 cerebral ischemia 60 33 frequent (33%) Frequent (79-30%) HP:0002637
22 impaired pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0007328
23 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
24 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
25 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
26 hypoglycemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001943
27 peripheral neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009830
28 varicose veins 60 33 occasional (7.5%) Occasional (29-5%) HP:0002619
29 recurrent pneumonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0006532
30 abnormality of extrapyramidal motor function 60 33 occasional (7.5%) Occasional (29-5%) HP:0002071
31 subcutaneous hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0001933
32 atherosclerosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002621
33 subdural hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0100309
34 visual loss 33 occasional (7.5%) HP:0000572
35 behavioral abnormality 33 very rare (1%) HP:0000708
36 hearing impairment 60 Occasional (29-5%)
37 abnormality of visual evoked potentials 33 HP:0000649
38 hypertonia 60 Frequent (79-30%)
39 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
40 abnormality of nervous system morphology 60 Very frequent (99-80%)
41 abnormal electroretinogram 33 HP:0000512
42 stroke 33 HP:0001297
43 headache 60 Very frequent (99-80%)
44 urinary incontinence 33 HP:0000020
45 abnormality of the skin 33 HP:0000951
46 recurrent subcortical infarcts 33 HP:0007236
47 pseudobulbar paralysis 33 HP:0007024
48 leukoencephalopathy 33 HP:0002352
49 nonarteritic anterior ischemic optic neuropathy 33 HP:0007634
50 subcortical dementia 33 HP:0007123

Symptoms via clinical synopsis from OMIM:

58
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

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

47 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 CFLAR COL4A1 HTRA1 JAG1 NOTCH1 NOTCH3
2 endocrine/exocrine gland MP:0005379 10.08 CFLAR EGF JAG1 NOTCH1 NOTCH3 RBPJ
3 cellular MP:0005384 10.07 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 RBPJ
4 growth/size/body region MP:0005378 10.06 CFLAR COL4A1 EGF HTRA1 JAG1 NOTCH1
5 embryo MP:0005380 10.04 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 RBPJ
6 hematopoietic system MP:0005397 10.03 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 RBPJ
7 immune system MP:0005387 10.01 CFLAR COL4A1 EGF NOTCH1 NOTCH3 RBPJ
8 mortality/aging MP:0010768 9.92 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 RBPJ
9 digestive/alimentary MP:0005381 9.91 EGF JAG1 NOTCH1 RBPJ TREX1
10 integument MP:0010771 9.85 EGF JAG1 NOTCH1 NOTCH3 RBPJ TREX1
11 muscle MP:0005369 9.8 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 RBPJ
12 renal/urinary system MP:0005367 9.63 COL4A1 JAG1 NOTCH1 NOTCH3 RBPJ TREX1
13 respiratory system MP:0005388 9.35 COL4A1 NOTCH1 NOTCH3 RBPJ TREX1
14 vision/eye MP:0005391 9.17 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 44)
# 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 Central Nervous System Depressants Phase 4
4 Peripheral Nervous System Agents Phase 4,Phase 3
5 Analgesics, Opioid Phase 4
6 Antipyretics Phase 4
7 Narcotics Phase 4
8 Analgesics Phase 4
9 Narcotic Antagonists Phase 4
10 Analgesics, Non-Narcotic Phase 4
11
Amlodipine Approved Phase 3 88150-42-9 2162
12
Atenolol Approved Phase 3 29122-68-7 2249
13
Losartan Approved Phase 3 114798-26-4 3961
14
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
15
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
16 Antihypertensive Agents Phase 3
17 Giapreza Phase 3
18 Adrenergic Agents Phase 3
19 Calcium, Dietary Phase 3
20 Sympatholytics Phase 3
21 calcium channel blockers Phase 3
22 Neurotransmitter Agents Phase 3,Phase 2
23 Angiotensin II Type 1 Receptor Blockers Phase 3
24 Anti-Arrhythmia Agents Phase 3
25 Hormones Phase 3
26 Adrenergic beta-1 Receptor Antagonists Phase 3
27 Angiotensinogen Phase 3
28 Autonomic Agents Phase 3
29 Adrenergic beta-Antagonists Phase 3
30 Angiotensin Receptor Antagonists Phase 3
31 Adrenergic Antagonists Phase 3
32 Vasodilator Agents Phase 3
33
Donepezil Approved Phase 2 120014-06-4 3152
34
Serine Approved, Nutraceutical Phase 2 56-45-1 5951
35
Dabigatran Investigational Phase 2 211914-51-1
36 HIV Protease Inhibitors Phase 2
37
protease inhibitors Phase 2
38 Antithrombins Phase 2
39 Anticoagulants Phase 2
40 Antithrombin III Phase 2
41 Serine Proteinase Inhibitors Phase 2
42 Nootropic Agents Phase 2
43 Cholinesterase Inhibitors Phase 2
44 Cholinergic Agents Phase 2

Interventional clinical trials:

(show all 16)
# 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 Generation of a Cellular Model of CADASIL From Skin Fibroblasts Unknown status NCT02032225
6 Imaging Study of Neurovascular Coupling in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Unknown status NCT02071784
7 Retinal Nerve Fiber Layer Thickness Changes in Migraine: A Meta-Analysis of Case-control Studies Unknown status NCT02196532
8 Secondary Prevention of Stroke Through Non-drug Therapeutic Weight Reduction Unknown status NCT01721538 Not Applicable
9 Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Completed NCT01114815
10 CADASIL Disease Discovery Active, not recruiting NCT02821780
11 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
12 Impact of tDCS on Cerebral Autoregulation Completed NCT01865604 Not Applicable
13 Retinal Nerve Fiber Layer Thickness Changes in Parkinson Disease: A Meta-analysis Completed NCT01928212
14 Alzheimer's Autism and Cognitive Impairment Stem Cell Treatment Study Recruiting NCT03724136 Not Applicable
15 Neurologic Stem Cell Treatment Study Recruiting NCT02795052 Not Applicable
16 Identification of Biomarkers Sensitive to Disease Progression in Patients With Mild Cognitive Impairment Completed NCT01425957 Not Applicable

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 30

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:

42
Brain, Heart, Smooth Muscle, Lung, Testes, Skin, Eye

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 201)
# Title Authors Year
1
Encephalopathy in a Large Cohort of British Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients. ( 30636574 )
2019
2
CADASIL presenting with focal and generalised epilepsy due to a novel NOTCH3 mutation. ( 30776699 )
2019
3
A Study of Congenital Protein C Deficiency With Infancy Onset of CADASIL in a Chinese Baby. ( 30883460 )
2019
4
CADASIL: new advances in basic science and clinical perspectives. ( 30855338 )
2019
5
Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL. ( 30847673 )
2019
6
Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells. ( 30778920 )
2019
7
General anesthesia considerations in CADASIL disease. ( 30665799 )
2019
8
Serum Neurofilament light correlates with CADASIL disease severity and survival. ( 30656183 )
2019
9
Clinical and research applications of magnetic resonance imaging in the study of CADASIL. ( 30634011 )
2019
10
A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family. ( 30545719 )
2019
11
Hemiplegic Migraine as the Initial Presentation of Biopsy Positive Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. ( 30027023 )
2018
12
Peripheral neuropathy in a case with CADASIL: a case report. ( 30170552 )
2018
13
Stem Cell Factor in Combination with Granulocyte Colony-Stimulating Factor reduces Cerebral Capillary Thrombosis in a Mouse Model of CADASIL. ( 29871518 )
2018
14
MRI hydrographic 3D sequences: myotonic dystrophy type 1 meets CADASIL. ( 29116570 )
2018
15
Comparison of brain magnetic resonance imaging between myotonic dystrophy type 1 and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. ( 30521610 )
2018
16
Effects of Cerebral Blood Flow and White Matter Integrity on Cognition in CADASIL Patients. ( 30692942 )
2018
17
CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) presenting as psychosis. ( 30582131 )
2018
18
Commentary to: Masoli et al. Clinical Outcomes of CADASIL-Associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. (Translational Stroke Research Oct 2018). ( 30565089 )
2018
19
MRI Lesion Load of Cerebral Small Vessel Disease and Cognitive Impairment in Patients With CADASIL. ( 30459701 )
2018
20
3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation. ( 30454692 )
2018
21
Event-Related Potential Correlates of Recognition Memory in Asymptomatic Individuals with CADASIL. ( 30445028 )
2018
22
Nuclear abnormalities in vascular myocytes in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 30402942 )
2018
23
Autophagy-lysosomal defect in human CADASIL vascular smooth muscle cells. ( 30392756 )
2018
24
Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers. ( 30338453 )
2018
25
The role of clinical and neuroimaging features in the diagnosis of CADASIL. ( 30311053 )
2018
26
Detrimental effects of intracerebral haemorrhage on patients with CADASIL harbouring NOTCH3 R544C mutation. ( 30309883 )
2018
27
CADASIL affecting a black African man. ( 30283819 )
2018
28
Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant. ( 30237574 )
2018
29
A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically. ( 30199759 )
2018
30
Cerebral Autosomal Dominant Arteriopathy (CADASIL) with cardiac involvement (ANOCA) and subcortical leukencephalopathy. ( 30197288 )
2018
31
RVCL-S and CADASIL display distinct impaired vascular function. ( 30076273 )
2018
32
Increased PKR level in human CADASIL brains. ( 30073405 )
2018
33
Different Types of White Matter Hyperintensities in CADASIL. ( 30042721 )
2018
34
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant. ( 30032161 )
2018
35
Notch3ECD immunotherapy improves cerebrovascular responses in CADASIL mice. ( 30014602 )
2018
36
Altered dynamics of neurovascular coupling in CADASIL. ( 30009197 )
2018
37
Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3. ( 29980472 )
2018
38
Acute Simultaneous Multiple Diffusion-Weighted MRI Abnormalities in a Patient With CADASIL. ( 29878342 )
2018
39
OCT-Angiography reveals reduced vessel density in the deep retinal plexus of CADASIL patients. ( 29802397 )
2018
40
Notch3 protein expression in skin fibroblasts from CADASIL patients. ( 29801872 )
2018
41
A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene. ( 29780132 )
2018
42
Severe white matter astrocytopathy in CADASIL. ( 29757481 )
2018
43
CADASIL brain vessels show a HTRA1 loss-of-function profile. ( 29725820 )
2018
44
Recognition of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Two Oligosymptomatic Sisters with Low CADASIL Scale Scores and a Venous Dysplasia: Report of a Novel Greek Family. ( 29706439 )
2018
45
A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not? ( 29600389 )
2018
46
Heterozygous HTRA1 missense mutation in CADASIL-like family disease. ( 29561953 )
2018
47
Differences in proliferation rate between CADASIL and control vascular smooth muscle cells are related to increased TGFβ expression. ( 29536621 )
2018
48
RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis. ( 29500468 )
2018
49
CADASIL. ( 29478611 )
2018
50
Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation. ( 29414412 )
2018

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:

76 (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 rs775836288
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 rs105751910
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 234)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH3 NM_000435.2(NOTCH3): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs797045014 GRCh38 Chromosome 19, 15192182: 15192182
2 NOTCH3 NM_000435.2(NOTCH3): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs797045014 GRCh37 Chromosome 19, 15302993: 15302993
3 NOTCH3 NM_000435.2(NOTCH3): c.3691C> T (p.Arg1231Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201680145 GRCh38 Chromosome 19, 15179052: 15179052
4 NOTCH3 NM_000435.2(NOTCH3): c.3691C> T (p.Arg1231Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201680145 GRCh37 Chromosome 19, 15289863: 15289863
5 NOTCH3 NM_000435.2(NOTCH3): c.1187C> G (p.Ser396Cys) single nucleotide variant Pathogenic rs863225297 GRCh37 Chromosome 19, 15300089: 15300089
6 NOTCH3 NM_000435.2(NOTCH3): c.1187C> G (p.Ser396Cys) single nucleotide variant Pathogenic rs863225297 GRCh38 Chromosome 19, 15189278: 15189278
7 NOTCH3 NM_000435.2(NOTCH3): c.451C> G (p.Gln151Glu) single nucleotide variant Uncertain significance rs371491165 GRCh37 Chromosome 19, 15302999: 15302999
8 NOTCH3 NM_000435.2(NOTCH3): c.451C> G (p.Gln151Glu) single nucleotide variant Uncertain significance rs371491165 GRCh38 Chromosome 19, 15192188: 15192188
9 NOTCH3 NM_000435.2(NOTCH3): c.6813T> C (p.Pro2271=) single nucleotide variant Benign/Likely benign rs61731974 GRCh38 Chromosome 19, 15160815: 15160815
10 NOTCH3 NM_000435.2(NOTCH3): c.6813T> C (p.Pro2271=) single nucleotide variant Benign/Likely benign rs61731974 GRCh37 Chromosome 19, 15271626: 15271626
11 NOTCH3 NM_000435.2(NOTCH3): c.6753C> T (p.Ser2251=) single nucleotide variant Benign rs61731975 GRCh38 Chromosome 19, 15160875: 15160875
12 NOTCH3 NM_000435.2(NOTCH3): c.6753C> T (p.Ser2251=) single nucleotide variant Benign rs61731975 GRCh37 Chromosome 19, 15271686: 15271686
13 NOTCH3 NM_000435.2(NOTCH3): c.6668C> T (p.Ala2223Val) single nucleotide variant Benign rs1044009 GRCh38 Chromosome 19, 15160960: 15160960
14 NOTCH3 NM_000435.2(NOTCH3): c.6668C> T (p.Ala2223Val) single nucleotide variant Benign rs1044009 GRCh37 Chromosome 19, 15271771: 15271771
15 NOTCH3 NM_000435.2(NOTCH3): c.6438G> A (p.Ala2146=) single nucleotide variant Benign rs1044008 GRCh38 Chromosome 19, 15161190: 15161190
16 NOTCH3 NM_000435.2(NOTCH3): c.6438G> A (p.Ala2146=) single nucleotide variant Benign rs1044008 GRCh37 Chromosome 19, 15272001: 15272001
17 NOTCH3 NM_000435.2(NOTCH3): c.6221C> T (p.Pro2074Leu) single nucleotide variant Benign rs114447350 GRCh38 Chromosome 19, 15161407: 15161407
18 NOTCH3 NM_000435.2(NOTCH3): c.6221C> T (p.Pro2074Leu) single nucleotide variant Benign rs114447350 GRCh37 Chromosome 19, 15272218: 15272218
19 NOTCH3 NM_000435.2(NOTCH3): c.6102C> T (p.Pro2034=) single nucleotide variant Benign rs114887570 GRCh37 Chromosome 19, 15272337: 15272337
20 NOTCH3 NM_000435.2(NOTCH3): c.6102C> T (p.Pro2034=) single nucleotide variant Benign rs114887570 GRCh38 Chromosome 19, 15161526: 15161526
21 NOTCH3 NM_000435.2(NOTCH3): c.6031G> A (p.Val2011Ile) single nucleotide variant Benign/Likely benign rs142007575 GRCh38 Chromosome 19, 15161597: 15161597
22 NOTCH3 NM_000435.2(NOTCH3): c.6031G> A (p.Val2011Ile) single nucleotide variant Benign/Likely benign rs142007575 GRCh37 Chromosome 19, 15272408: 15272408
23 NOTCH3 NM_000435.2(NOTCH3): c.5854G> A (p.Val1952Met) single nucleotide variant Benign/Likely benign rs115582213 GRCh38 Chromosome 19, 15162524: 15162524
24 NOTCH3 NM_000435.2(NOTCH3): c.5854G> A (p.Val1952Met) single nucleotide variant Benign/Likely benign rs115582213 GRCh37 Chromosome 19, 15273335: 15273335
25 NOTCH3 NM_000435.2(NOTCH3): c.5816-8T> C single nucleotide variant Benign rs4809030 GRCh38 Chromosome 19, 15162570: 15162570
26 NOTCH3 NM_000435.2(NOTCH3): c.5816-8T> C single nucleotide variant Benign rs4809030 GRCh37 Chromosome 19, 15273381: 15273381
27 NOTCH3 NM_000435.2(NOTCH3): c.5526T> C (p.Ala1842=) single nucleotide variant Benign rs16980398 GRCh38 Chromosome 19, 15165928: 15165928
28 NOTCH3 NM_000435.2(NOTCH3): c.5526T> C (p.Ala1842=) single nucleotide variant Benign rs16980398 GRCh37 Chromosome 19, 15276739: 15276739
29 NOTCH3 NM_000435.2(NOTCH3): c.5400G> T (p.Gly1800=) single nucleotide variant Benign/Likely benign rs34480308 GRCh38 Chromosome 19, 15166054: 15166054
30 NOTCH3 NM_000435.2(NOTCH3): c.5400G> T (p.Gly1800=) single nucleotide variant Benign/Likely benign rs34480308 GRCh37 Chromosome 19, 15276865: 15276865
31 NOTCH3 NM_000435.2(NOTCH3): c.5370C> T (p.Phe1790=) single nucleotide variant Benign/Likely benign rs35887416 GRCh38 Chromosome 19, 15166084: 15166084
32 NOTCH3 NM_000435.2(NOTCH3): c.5370C> T (p.Phe1790=) single nucleotide variant Benign/Likely benign rs35887416 GRCh37 Chromosome 19, 15276895: 15276895
33 NOTCH3 NM_000435.2(NOTCH3): c.5362+3T> C single nucleotide variant Benign rs1548555 GRCh38 Chromosome 19, 15167246: 15167246
34 NOTCH3 NM_000435.2(NOTCH3): c.5362+3T> C single nucleotide variant Benign rs1548555 GRCh37 Chromosome 19, 15278057: 15278057
35 NOTCH3 NM_000435.2(NOTCH3): c.4679G> C (p.Arg1560Pro) single nucleotide variant Benign/Likely benign rs78501403 GRCh38 Chromosome 19, 15174125: 15174125
36 NOTCH3 NM_000435.2(NOTCH3): c.4679G> C (p.Arg1560Pro) single nucleotide variant Benign/Likely benign rs78501403 GRCh37 Chromosome 19, 15284936: 15284936
37 NOTCH3 NM_000435.2(NOTCH3): c.4563A> G (p.Pro1521=) single nucleotide variant Benign rs1044006 GRCh38 Chromosome 19, 15174241: 15174241
38 NOTCH3 NM_000435.2(NOTCH3): c.4563A> G (p.Pro1521=) single nucleotide variant Benign rs1044006 GRCh37 Chromosome 19, 15285052: 15285052
39 NOTCH3 NM_000435.2(NOTCH3): c.1282T> A (p.Cys428Ser) single nucleotide variant Pathogenic rs267606915 GRCh38 Chromosome 19, 15189085: 15189085
40 NOTCH3 NM_000435.2(NOTCH3): c.1282T> A (p.Cys428Ser) single nucleotide variant Pathogenic rs267606915 GRCh37 Chromosome 19, 15299896: 15299896
41 NOTCH3 NM_000435.2(NOTCH3): c.3058G> C (p.Ala1020Pro) single nucleotide variant Benign rs35769976 GRCh38 Chromosome 19, 15180765: 15180765
42 NOTCH3 NM_000435.2(NOTCH3): c.3058G> C (p.Ala1020Pro) single nucleotide variant Benign rs35769976 GRCh37 Chromosome 19, 15291576: 15291576
43 NOTCH3 NM_000435.2(NOTCH3): c.2411_2566del156 single nucleotide variant Pathogenic rs864621966 GRCh38 Chromosome 19, 15184451: 15184451
44 NOTCH3 NM_000435.2(NOTCH3): c.2411_2566del156 single nucleotide variant Pathogenic rs864621966 GRCh37 Chromosome 19, 15295262: 15295262
45 NOTCH3 NM_000435.2(NOTCH3): c.397C> T (p.Arg133Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852642 GRCh38 Chromosome 19, 15192242: 15192242
46 NOTCH3 NM_000435.2(NOTCH3): c.397C> T (p.Arg133Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852642 GRCh37 Chromosome 19, 15303053: 15303053
47 NOTCH3 NM_000435.2(NOTCH3): c.994C> T (p.Arg332Cys) single nucleotide variant Pathogenic rs137852641 GRCh38 Chromosome 19, 15191466: 15191466
48 NOTCH3 NM_000435.2(NOTCH3): c.994C> T (p.Arg332Cys) single nucleotide variant Pathogenic rs137852641 GRCh37 Chromosome 19, 15302277: 15302277
49 NOTCH3 NM_000435.2(NOTCH3): c.1363T> C (p.Cys455Arg) single nucleotide variant Pathogenic rs28933698 GRCh38 Chromosome 19, 15189004: 15189004
50 NOTCH3 NM_000435.2(NOTCH3): c.1363T> C (p.Cys455Arg) single nucleotide variant Pathogenic rs28933698 GRCh37 Chromosome 19, 15299815: 15299815

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 JAG1 NOTCH1 NOTCH3 RBPJ
2
Show member pathways
12.5 EGF JAG1 NOTCH1 NOTCH3
3
Show member pathways
12.44 EGF JAG1 NOTCH1 NOTCH3
4 12.44 COL4A1 EGF JAG1 NOTCH1 NOTCH3
5
Show member pathways
12.27 JAG1 NOTCH1 NOTCH3 RBPJ
6
Show member pathways
12.27 COL4A1 EGF JAG1 NOTCH1 NOTCH3 RBPJ
7
Show member pathways
12.24 JAG1 NOTCH1 NOTCH3 RBPJ
8
Show member pathways
11.97 JAG1 NOTCH1 RBPJ
9
Show member pathways
11.84 JAG1 NOTCH1 RBPJ
10 11.82 NOTCH1 NOTCH3 RBPJ
11
Show member pathways
11.75 NOTCH1 NOTCH3 RBPJ
12 11.72 JAG1 NOTCH1 NOTCH3 RBPJ
13 11.64 NOTCH1 NOTCH3 RBPJ
14 11.49 JAG1 NOTCH1 NOTCH3
15 11.29 EGF NOTCH1
16 11.28 NOTCH1 RBPJ
17 11.25 NOTCH1 RBPJ
18 11.13 NOTCH1 RBPJ
19 11.1 JAG1 NOTCH1 RBPJ
20 10.81 JAG1 NOTCH1
21 10.75 JAG1 NOTCH1
22 10.36 JAG1 NOTCH1 NOTCH3 RBPJ

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 extracellular region GO:0005576 9.63 COL4A1 EGF HTRA1 JAG1 NOTCH1 NOTCH3
2 receptor complex GO:0043235 9.13 EGF NOTCH1 NOTCH3
3 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 NOTCH1 RBPJ

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.84 EGF JAG1 NOTCH1 RBPJ
2 regulation of cell proliferation GO:0042127 9.83 JAG1 NOTCH1 RBPJ
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.82 NOTCH1 NOTCH3 RBPJ
4 keratinocyte differentiation GO:0030216 9.75 JAG1 NOTCH1 RBPJ
5 negative regulation of neuron differentiation GO:0045665 9.73 JAG1 NOTCH1 NOTCH3
6 outflow tract morphogenesis GO:0003151 9.69 NOTCH1 RBPJ
7 negative regulation of BMP signaling pathway GO:0030514 9.68 HTRA1 NOTCH1
8 negative regulation of cold-induced thermogenesis GO:0120163 9.68 NOTCH1 RBPJ
9 ventricular septum morphogenesis GO:0060412 9.68 NOTCH1 RBPJ
10 epithelial to mesenchymal transition GO:0001837 9.68 NOTCH1 RBPJ
11 negative regulation of Notch signaling pathway GO:0045746 9.67 EGF NOTCH3
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.67 NOTCH1 RBPJ
13 positive regulation of BMP signaling pathway GO:0030513 9.67 NOTCH1 RBPJ
14 positive regulation of Notch signaling pathway GO:0045747 9.67 JAG1 NOTCH1 RBPJ
15 blood vessel remodeling GO:0001974 9.66 JAG1 RBPJ
16 neuron fate commitment GO:0048663 9.66 NOTCH1 NOTCH3
17 branching morphogenesis of an epithelial tube GO:0048754 9.65 EGF NOTCH1
18 artery morphogenesis GO:0048844 9.65 NOTCH3 RBPJ
19 aortic valve morphogenesis GO:0003180 9.64 JAG1 NOTCH1
20 negative regulation of ossification GO:0030279 9.63 NOTCH1 RBPJ
21 ventricular trabecula myocardium morphogenesis GO:0003222 9.63 NOTCH1 RBPJ
22 negative regulation of stem cell differentiation GO:2000737 9.62 JAG1 NOTCH1
23 pulmonary valve morphogenesis GO:0003184 9.62 JAG1 NOTCH1
24 Notch signaling pathway GO:0007219 9.62 JAG1 NOTCH1 NOTCH3 RBPJ
25 cardiac septum morphogenesis GO:0060411 9.61 JAG1 NOTCH1
26 inflammatory response to antigenic stimulus GO:0002437 9.61 NOTCH1 RBPJ
27 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.6 NOTCH1 RBPJ
28 response to muramyl dipeptide GO:0032495 9.59 JAG1 NOTCH1
29 cardiac left ventricle morphogenesis GO:0003214 9.58 NOTCH1 RBPJ
30 interleukin-4 secretion GO:0072602 9.57 NOTCH1 RBPJ
31 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.55 NOTCH1 RBPJ
32 endocardium development GO:0003157 9.52 NOTCH1 RBPJ
33 regulation of developmental process GO:0050793 9.51 NOTCH1 NOTCH3
34 auditory receptor cell fate commitment GO:0009912 9.48 NOTCH1 RBPJ
35 distal tubule development GO:0072017 9.46 JAG1 NOTCH1
36 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.43 NOTCH1 RBPJ
37 neuronal stem cell population maintenance GO:0097150 9.43 JAG1 NOTCH1 SRRT
38 endocardium morphogenesis GO:0003160 9.4 NOTCH1 RBPJ
39 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.37 JAG1 NOTCH1
40 positive regulation of transcription of Notch receptor target GO:0007221 9.33 NOTCH1 NOTCH3 RBPJ
41 negative regulation of cell differentiation GO:0045596 9.26 JAG1 NOTCH1 NOTCH3 RBPJ
42 Notch signaling involved in heart development GO:0061314 8.8 JAG1 NOTCH1 RBPJ

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 9.26 EGF JAG1 NOTCH1 NOTCH3
2 Notch binding GO:0005112 8.62 JAG1 NOTCH1

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

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70 SNOMED-CT via HPO
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