MCID: CRB171
MIFTS: 61

Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1

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

Aliases & Classifications for Cerebral Arteriopathy with Subcortical Infarcts and...

MalaCards integrated aliases for Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1:

Name: Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 54
Cadasil 12 23 50 24 25 51 56 71 52 42 14
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 12 50 24 25 56 29
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 50 25 13
Familial Vascular Leukoencephalopathy 50 25 69
Hereditary Multi-Infarct Dementia 12 56
Cadasil Syndrome 72 69
Casil 50 71
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 1 71
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Autosomal Dominant 71
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarctsleukoencephalopathy 23
Dementia, Hereditary Multi-Infarct Type 50
Hereditary Dementia, Multi-Infarct Type 25
Dementia Hereditary Multi-Infarct Type 71
Cadasil1 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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 with subcortical infarcts and leukoencephalopathy 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Cerebral Arteriopathy with Subcortical Infarcts and...

NINDS : 51 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 with Subcortical Infarcts and Leukoencephalopathy 1, also known as cadasil, is related to cadasil 1 and cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, and has symptoms including visual impairment, spasticity and migraine. An important gene associated with Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 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 cardiovascular system and growth/size/body region

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

UniProtKB/Swiss-Prot : 71 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.

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).

OMIM : 54
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)

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

Wikipedia : 72 CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical... more...

GeneReviews: NBK1500

Related Diseases for Cerebral Arteriopathy with Subcortical Infarcts and...

Diseases in the Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 family:

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

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

(show top 50) (show all 73)
id Related Disease Score Top Affiliating Genes
1 cadasil 1 12.1
2 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 11.4
3 brain small vessel disease with or without ocular anomalies 11.1
4 cerebritis 10.6
5 superior mesenteric artery syndrome 10.3 NOTCH3 NOTCH4
6 non-dystrophic myotonic disorders 10.2 JAG1 NOTCH1
7 clear cell adenoma 10.2 NOTCH1 NOTCH3
8 dementia 10.2
9 trophoblastic neoplasm 10.1 JAG1 NOTCH1
10 clear cell ependymoma 10.1 JAG1 NOTCH1
11 vascular dementia 10.0
12 encephalopathy 10.0
13 retinitis 10.0
14 baraitser-winter syndrome 10.0 EGF NOTCH1
15 secondary lacrimal atrophy 10.0 JAG1 NOTCH1 NOTCH3
16 bardet-biedl syndrome 6 10.0 JAG1 NOTCH1
17 trench fever 9.9 NOTCH1 NOTCH3 NOTCH4
18 artery disease 9.9
19 glaucoma 3, primary congenital, e 9.9 NOTCH3 NOTCH4
20 opiate dependence 9.8 EGF JAG1 NOTCH1
21 status epilepticus 9.8
22 peripheral artery disease 9.8
23 hemiplegic migraine 9.8
24 acoustic neuroma 9.8 HTRA1 NOTCH3 NOTCH4
25 familial hemiplegic migraine 9.8
26 migraine with aura 9.8
27 headache 9.8
28 endotheliitis 9.8
29 vascular disease 9.7
30 arteriovenous malformation 9.7
31 cerebrovascular disease 9.7
32 neuronitis 9.7
33 bipolar disorder 9.7
34 hajdu-cheney syndrome 9.6 JAG1 NOTCH1 NOTCH3 NOTCH4
35 thrombocytopenia 9.5
36 amyloidosis 9.5
37 epilepsy 9.5
38 hyperhomocysteinemia 9.5
39 focal epilepsy 9.5
40 binswanger's disease 9.5
41 balo concentric sclerosis 9.5
42 lateral sclerosis 9.5
43 cervicitis 9.5
44 primary angiitis of the central nervous system 9.5
45 schizophrenia 9.5
46 sensorineural hearing loss 9.5
47 ischemia 9.5
48 sudden sensorineural hearing loss 9.5
49 myocardial infarction 9.5
50 mood disorder 9.5

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



Diseases related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1

Symptoms & Phenotypes for Cerebral Arteriopathy with Subcortical Infarcts and...

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Bladder:
urinary incontinence

Head And Neck- Eyes:
abnormal electroretinogram (erg)
acute vision loss due to optic nerve infarction (rare)
nonarteritic anterior ischemic optic neuropathy (naion)
abnormal visual evoked responses (vep)

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

Neurologic- Central Nervous System:
leukoencephalopathy
gait abnormalities
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
more
Neurologic- Behavioral Psychiatric Manifestations:
mood disorders
psychiatric disturbances (9% of patients)

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


Clinical features from OMIM:

125310

Human phenotypes related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1:

56 32 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
2 spasticity 56 32 frequent (33%) Frequent (79-30%) HP:0001257
3 migraine 56 32 hallmark (90%) Very frequent (99-80%) HP:0002076
4 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 peripheral neuropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0009830
6 coma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001259
7 depression 56 32 hallmark (90%) Very frequent (99-80%) HP:0000716
8 hypoglycemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001943
9 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
10 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
11 memory impairment 56 32 frequent (33%) Frequent (79-30%) HP:0002354
12 hemiplegia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002301
13 confusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0001289
14 aphasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002381
15 fever 56 32 hallmark (90%) Very frequent (99-80%) HP:0001945
16 atherosclerosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002621
17 dementia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000726
18 sensory neuropathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000763
19 developmental regression 56 32 hallmark (90%) Very frequent (99-80%) HP:0002376
20 recurrent pneumonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0006532
21 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
22 varicose veins 56 32 occasional (7.5%) Occasional (29-5%) HP:0002619
23 gait disturbance 56 32 frequent (33%) Frequent (79-30%) HP:0001288
24 cranial nerve paralysis 56 32 frequent (33%) Frequent (79-30%) HP:0006824
25 cerebral ischemia 56 32 frequent (33%) Frequent (79-30%) HP:0002637
26 retinal arteriolar tortuosity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001136
27 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353
28 elevated serum creatine phosphokinase 56 32 hallmark (90%) Very frequent (99-80%) HP:0003236
29 amaurosis fugax 56 32 hallmark (90%) Very frequent (99-80%) HP:0100576
30 impaired pain sensation 56 32 frequent (33%) Frequent (79-30%) HP:0007328
31 abnormality of extrapyramidal motor function 56 32 occasional (7.5%) Occasional (29-5%) HP:0002071
32 subcutaneous hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0001933
33 subdural hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0100309
34 headache 56 Very frequent (99-80%)
35 hypertonia 56 Frequent (79-30%)
36 urinary incontinence 32 HP:0000020
37 leukoencephalopathy 32 HP:0002352
38 stroke 32 HP:0001297
39 pseudobulbar paralysis 32 HP:0007024
40 visual loss 32 occasional (7.5%) HP:0000572
41 hearing impairment 56 Occasional (29-5%)
42 abnormal electroretinogram 32 HP:0000512
43 nonarteritic anterior ischemic optic neuropathy 32 HP:0007634
44 behavioral abnormality 32 very rare (1%) HP:0000708
45 abnormality of visual evoked potentials 32 HP:0000649
46 abnormality of nervous system morphology 56 Very frequent (99-80%)
47 abnormality of the skin 32 HP:0000951
48 subcortical dementia 32 HP:0007123
49 recurrent subcortical infarcts 32 HP:0007236

MGI Mouse Phenotypes related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1:

44
id 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 CFLAR COL4A1 JAG1 NOTCH1 NOTCH3 TREX1
8 renal/urinary system MP:0005367 9.35 COL4A1 JAG1 NOTCH1 NOTCH3 TREX1
9 vision/eye MP:0005391 9.23 EGF HTRA1 JAG1 NOTCH1 NOTCH3 NOTCH4

Drugs & Therapeutics for Cerebral Arteriopathy with Subcortical Infarcts and...

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

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
3 Analgesics Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Analgesics, Opioid Phase 4
6 Antipyretics Phase 4
7 Central Nervous System Depressants Phase 4
8 Narcotic Antagonists Phase 4
9 Narcotics Phase 4
10 Peripheral Nervous System Agents Phase 4,Phase 3
11
Amlodipine Approved Phase 3 88150-42-9 2162
12
Atenolol Approved Phase 3 29122-68-7 2249
13
Losartan Approved Phase 3 114798-26-4 3961
14
Angiotensin II Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
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 Anticoagulants Phase 2
32 Antithrombin III Phase 2
33 Antithrombins Phase 2
34 Dabigatran Phase 2
35 HIV Protease Inhibitors Phase 2
36
protease inhibitors Phase 2
37 Serine Proteinase Inhibitors Phase 2
38 Cholinergic Agents Phase 2
39 Cholinesterase Inhibitors Phase 2
40 Nootropic Agents Phase 2
41 serine Nutraceutical Phase 2

Interventional clinical trials:


id 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 Not yet 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

Search NIH Clinical Center for Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1

Cochrane evidence based reviews: cadasil

Genetic Tests for Cerebral Arteriopathy with Subcortical Infarcts and...

Genetic tests related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1:

id Genetic test Affiliating Genes
1 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 29
2 Cadasil 24 NOTCH3

Anatomical Context for Cerebral Arteriopathy with Subcortical Infarcts and...

MalaCards organs/tissues related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1:

39
Brain, Heart, Smooth Muscle, Testes, Eye, Temporal Lobe, Thalamus

Publications for Cerebral Arteriopathy with Subcortical Infarcts and...

Variations for Cerebral Arteriopathy with Subcortical Infarcts and...

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

71 (show top 50) (show all 109)
id 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
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 with Subcortical Infarcts and Leukoencephalopathy 1:

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

Expression for Cerebral Arteriopathy with Subcortical Infarcts and...

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

Pathways for Cerebral Arteriopathy with Subcortical Infarcts and...

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

(show all 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 CFLAR COL4A1 EGF NOTCH1 NOTCH3 NOTCH4
2
Show member pathways
12.59 JAG1 NOTCH1 NOTCH3 NOTCH4
3
Show member pathways
12.32 JAG1 NOTCH1 NOTCH3
4 12.28 NOTCH1 NOTCH3 NOTCH4
5 12.24 NOTCH1 NOTCH3 NOTCH4
6 12.17 COL4A1 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
7
Show member pathways
12.16 EGF JAG1 NOTCH1 NOTCH3 NOTCH4
8
Show member pathways
12.16 JAG1 NOTCH1 NOTCH3 NOTCH4
9
Show member pathways
11.86 NOTCH1 NOTCH3 NOTCH4
10 11.82 NOTCH1 NOTCH3 NOTCH4
11 11.82 JAG1 NOTCH1 NOTCH3 NOTCH4
12
Show member pathways
11.75 NOTCH1 NOTCH3 NOTCH4
13 11.7 NOTCH1 NOTCH3 NOTCH4
14 11.67 NOTCH1 NOTCH3 NOTCH4
15 11.55 NOTCH1 NOTCH3 NOTCH4
16 11.26 EGF NOTCH1
17 11.24 JAG1 NOTCH1
18 11.2 JAG1 NOTCH1 NOTCH3 NOTCH4
19 11.1 NOTCH1 NOTCH4
20 10.79 JAG1 NOTCH1
21 10.74 JAG1 NOTCH1
22 10.36 JAG1 NOTCH1 NOTCH3 NOTCH4

GO Terms for Cerebral Arteriopathy with Subcortical Infarcts and...

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

id 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 with Subcortical Infarcts and Leukoencephalopathy 1 according to GeneCards Suite gene sharing:

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.77 EGF JAG1 NOTCH1
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.73 NOTCH1 NOTCH3 NOTCH4
3 positive regulation of epithelial cell proliferation GO:0050679 9.62 HTRA1 NOTCH1
4 negative regulation of BMP signaling pathway GO:0030514 9.61 HTRA1 NOTCH1
5 positive regulation of Notch signaling pathway GO:0045747 9.61 JAG1 NOTCH1
6 neuron fate commitment GO:0048663 9.59 NOTCH1 NOTCH3
7 branching involved in blood vessel morphogenesis GO:0001569 9.58 COL4A1 NOTCH4
8 branching morphogenesis of an epithelial tube GO:0048754 9.58 EGF NOTCH1
9 neuronal stem cell population maintenance GO:0097150 9.57 JAG1 NOTCH1
10 Notch signaling pathway GO:0007219 9.56 JAG1 NOTCH1 NOTCH3 NOTCH4
11 cell fate determination GO:0001709 9.55 JAG1 NOTCH4
12 endothelial cell differentiation GO:0045446 9.54 JAG1 NOTCH4
13 negative regulation of neuron differentiation GO:0045665 9.54 JAG1 NOTCH1 NOTCH3
14 negative regulation of stem cell differentiation GO:2000737 9.52 JAG1 NOTCH1
15 response to muramyl dipeptide GO:0032495 9.51 JAG1 NOTCH1
16 cardiac septum morphogenesis GO:0060411 9.49 JAG1 NOTCH1
17 pulmonary valve morphogenesis GO:0003184 9.48 JAG1 NOTCH1
18 Notch signaling involved in heart development GO:0061314 9.46 JAG1 NOTCH1
19 negative regulation of endothelial cell differentiation GO:0045602 9.43 JAG1 NOTCH4
20 positive regulation of transcription of Notch receptor target GO:0007221 9.4 NOTCH1 NOTCH4
21 Notch receptor processing GO:0007220 9.33 JAG1 NOTCH3 NOTCH4
22 distal tubule development GO:0072017 9.32 JAG1 NOTCH1
23 negative regulation of cell differentiation GO:0045596 9.26 JAG1 NOTCH1 NOTCH3 NOTCH4
24 regulation of developmental process GO:0050793 8.32 NOTCH1

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

id Name GO ID Score Top Affiliating Genes
1 receptor activity GO:0004872 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 with Subcortical Infarcts and...

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16 ExPASy
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