CADASIL1
MCID: CRB175
MIFTS: 68

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 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 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 3), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. Affiliated tissues include brain, heart and smooth muscle, and related phenotypes are depressivity and hypertension

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

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).

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.

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.

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 top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 brain small vessel disease with or without ocular anomalies 32.0 TREX1 COL4A1
2 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 11.6
3 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 11.1
4 factor xii deficiency 10.5
5 dementia 10.5
6 migraine with or without aura 1 10.3
7 coronary artery anomaly 10.3
8 ischemic optic neuropathy 10.3
9 optic nerve disease 10.3
10 vascular dementia 10.3
11 encephalopathy 10.3
12 multiple sclerosis 10.2
13 depression 10.1
14 nodular regenerative hyperplasia 10.1 NOTCH1 JAG1
15 atypical choroid plexus papilloma 10.1 NOTCH4 NOTCH3
16 lung adenoma 10.1 NOTCH3 NOTCH1
17 arteries, anomalies of 10.1
18 peripheral artery disease 10.1
19 status epilepticus 10.1
20 hemiplegic migraine 10.1
21 headache 10.1
22 tricuspid valve stenosis 10.1 NOTCH1 JAG1
23 alagille syndrome 1 10.0 NOTCH1 JAG1
24 tympanic membrane disease 10.0 NOTCH1 COL4A1
25 venous malformations, multiple cutaneous and mucosal 10.0 NOTCH4 NOTCH3
26 alzheimer disease 10.0
27 familial hemiplegic migraine 10.0
28 migraine with aura 10.0
29 ossifying fibroma 10.0 NOTCH3 NOTCH1 JAG1
30 chorioretinal scar 10.0 NOTCH4 NOTCH3 NOTCH1
31 granulomatous angiitis 9.9 NOTCH1 JAG1 EGF
32 dowling-degos disease 9.9 NOTCH1 EGF
33 bipolar disorder 9.9
34 vascular disease 9.9
35 peripheral nervous system disease 9.9
36 cerebrovascular disease 9.9
37 neuropathy 9.9
38 binswanger's disease 9.9
39 pseudobulbar palsy 9.9 NOTCH4 NOTCH3 HTRA1
40 hajdu-cheney syndrome 9.9 NOTCH4 NOTCH3 NOTCH1 JAG1
41 adams-oliver syndrome 9.9 NOTCH1 EGF
42 cerebral amyloid angiopathy, cst3-related 9.8
43 amyotrophic lateral sclerosis 1 9.8
44 multiple system atrophy 1 9.8
45 myotonic dystrophy 1 9.8
46 schizophrenia 9.8
47 varicose veins 9.8
48 vasculopathy, retinal, with cerebral leukodystrophy 9.8
49 fabry disease 9.8
50 frontotemporal dementia 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...

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

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 10.08 CFLAR COL4A1 HTRA1 JAG1 NOTCH1 NOTCH3
2 growth/size/body region MP:0005378 10.01 CFLAR COL4A1 EGF HTRA1 JAG1 NOTCH1
3 embryo MP:0005380 9.93 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 NOTCH4
4 endocrine/exocrine gland MP:0005379 9.91 CFLAR EGF JAG1 NOTCH1 NOTCH3 TREX1
5 homeostasis/metabolism MP:0005376 9.91 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 NOTCH4
6 mortality/aging MP:0010768 9.8 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 NOTCH4
7 integument MP:0010771 9.72 EGF JAG1 NOTCH1 NOTCH3 TREX1
8 muscle MP:0005369 9.63 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 TREX1
9 renal/urinary system MP:0005367 9.35 COL4A1 JAG1 NOTCH1 NOTCH3 TREX1
10 vision/eye MP:0005391 9.23 COL4A1 EGF HTRA1 JAG1 NOTCH1 NOTCH3

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

Search Clinical Trials , 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, 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 219)
# Title Authors Year
1
Hemiplegic Migraine as the Initial Presentation of Biopsy Positive Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. ( 30027023 )
2018
2
Comparison of brain magnetic resonance imaging between myotonic dystrophy type 1 and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. ( 30521610 )
2018
3
MRI hydrographic 3D sequences: myotonic dystrophy type 1 meets CADASIL. ( 29116570 )
2018
4
Peripheral neuropathy in a case with CADASIL: a case report. ( 30170552 )
2018
5
Stem Cell Factor in Combination with Granulocyte Colony-Stimulating Factor reduces Cerebral Capillary Thrombosis in a Mouse Model of CADASIL. ( 29871518 )
2018
6
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
7
CADASIL brain vessels show a HTRA1 loss-of-function profile. ( 29725820 )
2018
8
Severe White Matter Astrocytopathy in CADASIL. ( 29757481 )
2018
9
A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene. ( 29780132 )
2018
10
Notch3 protein expression in skin fibroblasts from CADASIL patients. ( 29801872 )
2018
11
OCT-Angiography reveals reduced vessel density in the deep retinal plexus of CADASIL patients. ( 29802397 )
2018
12
Acute Simultaneous Multiple Diffusion-Weighted MRI Abnormalities in a Patient With CADASIL. ( 29878342 )
2018
13
Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3. ( 29980472 )
2018
14
Altered dynamics of neurovascular coupling in CADASIL. ( 30009197 )
2018
15
Notch3ECD immunotherapy improves cerebrovascular responses in CADASIL mice. ( 30014602 )
2018
16
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
17
Different Types of White Matter Hyperintensities in CADASIL. ( 30042721 )
2018
18
Increased PKR level in human CADASIL brains. ( 30073405 )
2018
19
RVCL-S and CADASIL display distinct impaired vascular function. ( 30076273 )
2018
20
Cerebral Autosomal Dominant Arteriopathy (CADASIL) with cardiac involvement (ANOCA) and subcortical leukencephalopathy. ( 30197288 )
2018
21
A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically. ( 30199759 )
2018
22
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
23
CADASIL affecting a black African man. ( 30283819 )
2018
24
Detrimental effects of intracerebral haemorrhage on patients with CADASIL harbouring NOTCH3 R544C mutation. ( 30309883 )
2018
25
The role of clinical and neuroimaging features in the diagnosis of CADASIL. ( 30311053 )
2018
26
Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers. ( 30338453 )
2018
27
Autophagy-lysosomal defect in human CADASIL vascular smooth muscle cells. ( 30392756 )
2018
28
Nuclear abnormalities in vascular myocytes in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). ( 30402942 )
2018
29
Event-Related Potential Correlates of Recognition Memory in Asymptomatic Individuals with CADASIL. ( 30445028 )
2018
30
3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation. ( 30454692 )
2018
31
MRI Lesion Load of Cerebral Small Vessel Disease and Cognitive Impairment in Patients With CADASIL. ( 30459701 )
2018
32
A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family. ( 30545719 )
2018
33
Different types of white matter hyperintensities in CADASIL: Insights from 7-Tesla MRI. ( 28128022 )
2018
34
Vasoreactivity in CADASIL: Comparison to structural MRI and neuropsychology. ( 28537106 )
2018
35
The Advantage of Synthetic MRI for the Visualization of Anterior Temporal Pole Lesions on Double Inversion Recovery (DIR), Phase-sensitive Inversion Recovery (PSIR), and Myelin Images in a Patient with CADASIL. ( 29238005 )
2018
36
Epidural management for obstetric patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) undergoing emergent cesarean section. ( 29306119 )
2018
37
Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients. ( 29370179 )
2018
38
Clinical correlates of longitudinal MRI changes in CADASIL. ( 29400120 )
2018
39
Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation. ( 29414412 )
2018
40
CADASIL. ( 29478611 )
2018
41
RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis. ( 29500468 )
2018
42
Differences in proliferation rate between CADASIL and control vascular smooth muscle cells are related to increased TGFβ expression. ( 29536621 )
2018
43
Heterozygous HTRA1 missense mutation in CADASIL-like family disease. ( 29561953 )
2018
44
A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not? ( 29600389 )
2018
45
A Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Mimics on Brain Magnetic Resonance Imaging in Myotonic Dystrophy Type I. ( 28459935 )
2017
46
CADASIL mimicking multiple sclerosis: The importance of clinical and MRI red flags. ( 27773545 )
2017
47
CADASIL accelerated by acute hypotension: Arterial and venous contribution to leukoaraiosis. ( 28202707 )
2017
48
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. ( 28231783 )
2017
49
CADASIL: Ultrastructural insights into the morphology of granular osmiophilic material. ( 28293466 )
2017
50
Functional magnetic resonance imaging responses in CADASIL. ( 28320141 )
2017

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 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 230)
# 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.3058G> C (p.Ala1020Pro) single nucleotide variant Benign rs35769976 GRCh37 Chromosome 19, 15291576: 15291576
20 NOTCH3 NM_000435.2(NOTCH3): c.3058G> C (p.Ala1020Pro) single nucleotide variant Benign rs35769976 GRCh38 Chromosome 19, 15180765: 15180765
21 NOTCH3 NM_000435.2(NOTCH3): c.1282T> A (p.Cys428Ser) single nucleotide variant Pathogenic rs267606915 GRCh37 Chromosome 19, 15299896: 15299896
22 NOTCH3 NM_000435.2(NOTCH3): c.1282T> A (p.Cys428Ser) single nucleotide variant Pathogenic rs267606915 GRCh38 Chromosome 19, 15189085: 15189085
23 NOTCH3 NM_000435.2(NOTCH3): c.451C> G (p.Gln151Glu) single nucleotide variant Uncertain significance rs371491165 GRCh37 Chromosome 19, 15302999: 15302999
24 NOTCH3 NM_000435.2(NOTCH3): c.451C> G (p.Gln151Glu) single nucleotide variant Uncertain significance rs371491165 GRCh38 Chromosome 19, 15192188: 15192188
25 NOTCH3 NM_000435.2(NOTCH3): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs797045014 GRCh38 Chromosome 19, 15192182: 15192182
26 NOTCH3 NM_000435.2(NOTCH3): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs797045014 GRCh37 Chromosome 19, 15302993: 15302993
27 NOTCH3 NM_000435.2(NOTCH3): c.3691C> T (p.Arg1231Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201680145 GRCh38 Chromosome 19, 15179052: 15179052
28 NOTCH3 NM_000435.2(NOTCH3): c.3691C> T (p.Arg1231Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201680145 GRCh37 Chromosome 19, 15289863: 15289863
29 NOTCH3 NM_000435.2(NOTCH3): c.1187C> G (p.Ser396Cys) single nucleotide variant Pathogenic rs863225297 GRCh37 Chromosome 19, 15300089: 15300089
30 NOTCH3 NM_000435.2(NOTCH3): c.1187C> G (p.Ser396Cys) single nucleotide variant Pathogenic rs863225297 GRCh38 Chromosome 19, 15189278: 15189278
31 NOTCH3 NM_000435.2(NOTCH3): c.6813T> C (p.Pro2271=) single nucleotide variant Benign/Likely benign rs61731974 GRCh38 Chromosome 19, 15160815: 15160815
32 NOTCH3 NM_000435.2(NOTCH3): c.6813T> C (p.Pro2271=) single nucleotide variant Benign/Likely benign rs61731974 GRCh37 Chromosome 19, 15271626: 15271626
33 NOTCH3 NM_000435.2(NOTCH3): c.6753C> T (p.Ser2251=) single nucleotide variant Benign rs61731975 GRCh38 Chromosome 19, 15160875: 15160875
34 NOTCH3 NM_000435.2(NOTCH3): c.6753C> T (p.Ser2251=) single nucleotide variant Benign rs61731975 GRCh37 Chromosome 19, 15271686: 15271686
35 NOTCH3 NM_000435.2(NOTCH3): c.6668C> T (p.Ala2223Val) single nucleotide variant Benign rs1044009 GRCh38 Chromosome 19, 15160960: 15160960
36 NOTCH3 NM_000435.2(NOTCH3): c.6668C> T (p.Ala2223Val) single nucleotide variant Benign rs1044009 GRCh37 Chromosome 19, 15271771: 15271771
37 NOTCH3 NM_000435.2(NOTCH3): c.6438G> A (p.Ala2146=) single nucleotide variant Benign rs1044008 GRCh38 Chromosome 19, 15161190: 15161190
38 NOTCH3 NM_000435.2(NOTCH3): c.6438G> A (p.Ala2146=) single nucleotide variant Benign rs1044008 GRCh37 Chromosome 19, 15272001: 15272001
39 NOTCH3 NM_000435.2(NOTCH3): c.6221C> T (p.Pro2074Leu) single nucleotide variant Benign rs114447350 GRCh38 Chromosome 19, 15161407: 15161407
40 NOTCH3 NM_000435.2(NOTCH3): c.6221C> T (p.Pro2074Leu) single nucleotide variant Benign rs114447350 GRCh37 Chromosome 19, 15272218: 15272218
41 NOTCH3 NM_000435.2(NOTCH3): c.6102C> T (p.Pro2034=) single nucleotide variant Benign rs114887570 GRCh37 Chromosome 19, 15272337: 15272337
42 NOTCH3 NM_000435.2(NOTCH3): c.6102C> T (p.Pro2034=) single nucleotide variant Benign rs114887570 GRCh38 Chromosome 19, 15161526: 15161526
43 NOTCH3 NM_000435.2(NOTCH3): c.6031G> A (p.Val2011Ile) single nucleotide variant Benign/Likely benign rs142007575 GRCh38 Chromosome 19, 15161597: 15161597
44 NOTCH3 NM_000435.2(NOTCH3): c.6031G> A (p.Val2011Ile) single nucleotide variant Benign/Likely benign rs142007575 GRCh37 Chromosome 19, 15272408: 15272408
45 NOTCH3 NM_000435.2(NOTCH3): c.5854G> A (p.Val1952Met) single nucleotide variant Benign/Likely benign rs115582213 GRCh38 Chromosome 19, 15162524: 15162524
46 NOTCH3 NM_000435.2(NOTCH3): c.5854G> A (p.Val1952Met) single nucleotide variant Benign/Likely benign rs115582213 GRCh37 Chromosome 19, 15273335: 15273335
47 NOTCH3 NM_000435.2(NOTCH3): c.5816-8T> C single nucleotide variant Benign rs4809030 GRCh38 Chromosome 19, 15162570: 15162570
48 NOTCH3 NM_000435.2(NOTCH3): c.5816-8T> C single nucleotide variant Benign rs4809030 GRCh37 Chromosome 19, 15273381: 15273381
49 NOTCH3 NM_000435.2(NOTCH3): c.5526T> C (p.Ala1842=) single nucleotide variant Benign rs16980398 GRCh38 Chromosome 19, 15165928: 15165928
50 NOTCH3 NM_000435.2(NOTCH3): c.5526T> C (p.Ala1842=) single nucleotide variant Benign rs16980398 GRCh37 Chromosome 19, 15276739: 15276739

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 CFLAR COL4A1 EGF JAG1 NOTCH1 NOTCH3
2
Show member pathways
13.55 CFLAR COL4A1 EGF NOTCH1 NOTCH3 NOTCH4
3
Show member pathways
12.61 JAG1 NOTCH1 NOTCH3 NOTCH4
4
Show member pathways
12.57 COL4A1 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
5
Show member pathways
12.44 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
6
Show member pathways
12.39 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
7
Show member pathways
12.33 JAG1 NOTCH1 NOTCH3
8 12.32 NOTCH1 NOTCH3 NOTCH4
9
Show member pathways
12.27 JAG1 NOTCH1 NOTCH3 NOTCH4
10 12.24 NOTCH1 NOTCH3 NOTCH4
11 12.15 COL4A1 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
12 11.97 JAG1 NOTCH1 NOTCH3 NOTCH4
13
Show member pathways
11.88 NOTCH1 NOTCH3 NOTCH4
14 11.85 NOTCH1 NOTCH3 NOTCH4
15
Show member pathways
11.79 NOTCH1 NOTCH3 NOTCH4
16 11.74 NOTCH1 NOTCH3 NOTCH4
17 11.72 NOTCH1 NOTCH3 NOTCH4
18 11.64 NOTCH1 NOTCH3 NOTCH4
19 11.41 JAG1 NOTCH1 NOTCH3 NOTCH4
20 11.28 EGF NOTCH1
21 11.25 JAG1 NOTCH1
22 11.12 NOTCH1 NOTCH4
23 10.81 JAG1 NOTCH1
24 10.78 JAG1 NOTCH1
25 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 9.79 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 negative regulation of Notch signaling pathway GO:0045746 9.62 EGF NOTCH3
6 neuron fate commitment GO:0048663 9.61 NOTCH1 NOTCH3
7 negative regulation of neuron differentiation GO:0045665 9.61 JAG1 NOTCH1 NOTCH3
8 branching involved in blood vessel morphogenesis GO:0001569 9.6 COL4A1 NOTCH4
9 branching morphogenesis of an epithelial tube GO:0048754 9.59 EGF NOTCH1
10 neuronal stem cell population maintenance GO:0097150 9.58 JAG1 NOTCH1
11 positive regulation of Notch signaling pathway GO:0045747 9.58 JAG1 NOTCH1 NOTCH4
12 aortic valve morphogenesis GO:0003180 9.57 JAG1 NOTCH1
13 cell fate determination GO:0001709 9.56 JAG1 NOTCH4
14 Notch signaling pathway GO:0007219 9.56 JAG1 NOTCH1 NOTCH3 NOTCH4
15 negative regulation of stem cell differentiation GO:2000737 9.55 JAG1 NOTCH1
16 pulmonary valve morphogenesis GO:0003184 9.54 JAG1 NOTCH1
17 cardiac septum morphogenesis GO:0060411 9.52 JAG1 NOTCH1
18 endothelial cell differentiation GO:0045446 9.51 JAG1 NOTCH4
19 response to muramyl dipeptide GO:0032495 9.49 JAG1 NOTCH1
20 negative regulation of endothelial cell differentiation GO:0045602 9.48 JAG1 NOTCH4
21 Notch signaling involved in heart development GO:0061314 9.46 JAG1 NOTCH1
22 distal tubule development GO:0072017 9.37 JAG1 NOTCH1
23 positive regulation of transcription of Notch receptor target GO:0007221 9.33 NOTCH1 NOTCH3 NOTCH4
24 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 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 signaling receptor activity GO:0038023 9.33 NOTCH1 NOTCH3 NOTCH4
2 calcium ion binding GO:0005509 9.02 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
3 Notch binding GO:0005112 8.96 JAG1 NOTCH1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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