CADASIL1
MCID: CRB047
MIFTS: 41

Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL1) malady

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

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

Aliases & Descriptions for Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:

Name: Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 54 13
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Autosomal Dominant 66 29
Cadasil 56 66
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 1 66
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy 54
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 56
Dementia Hereditary Multi-Infarct Type 66
Hereditary Multi-Infarct Dementia 56
Cadasil Syndrome 69
Cadasil1 66
Casil 66

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;

HPO:

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


Classifications:



External Ids:

OMIM 54 125310
Orphanet 56 ORPHA136
MESH via Orphanet 43 D046589
UMLS via Orphanet 70 C0751587
ICD10 via Orphanet 34 F01.1
MeSH 42 D046589

Summaries for Cerebral Arteriopathy with Subcortical Infarcts and...

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).

MalaCards based summary : Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, also known as cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant, is related to cadasil and cadasil 2, and has symptoms including seizures, gait disturbance and peripheral neuropathy. An important gene associated with Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is NOTCH3 (Notch 3). The drugs Acetaminophen and Buprenorphine have been mentioned in the context of this disorder. Affiliated tissues include brain, smooth muscle and skin.

OMIM : 54 Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive... (125310) more...

UniProtKB/Swiss-Prot : 66 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.

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

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

id Related Disease Score Top Affiliating Genes
1 cadasil 11.8
2 cadasil 2 11.5
3 cadasil 1 11.4
4 carasil syndrome 11.3
5 cerebritis 10.2
6 headache 10.1

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



Diseases related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

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

Symptoms by clinical synopsis from OMIM:

125310

Clinical features from OMIM:

125310

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

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

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

Drugs for Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (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 Neurotransmitter Agents Phase 3,Phase 2
15 Adrenergic Agents Phase 3
16 Adrenergic Antagonists Phase 3
17 Adrenergic beta-1 Receptor Antagonists Phase 3
18 Adrenergic beta-Antagonists Phase 3
19
Angiotensin II Phase 3 68521-88-0, 11128-99-7 65143 172198
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:

(show all 12)
id Name Status NCT ID Phase
1 Efficacy of Pain Treatment on Depression in Patients With Dementia Completed NCT02267057 Phase 4
2 Effects of Amlodipine and Other Blood Pressure Lowering Agents on Microvascular Function Not yet recruiting NCT03082014 Phase 3
3 Safety Study of Dabigatran in CADASIL Unknown status NCT01361763 Phase 2
4 The Efficacy, Safety, And Tolerability Of Donepezil HCl (E2020) In Patients With CADASIL Who Have Cognitive Impairment Completed NCT00103948 Phase 2
5 Retinal Nerve Fiber Layer Thickness Changes in Migraine: A Meta-Analysis of Case-control Studies Unknown status NCT02196532
6 Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Completed NCT01114815
7 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
8 Impact of tDCS on Cerebral Autoregulation Completed NCT01865604
9 Retinal Nerve Fiber Layer Thickness Changes in Parkinson Disease: A Meta-analysis Completed NCT01928212
10 Imaging Study of Neurovascular Coupling in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Recruiting NCT02071784
11 CADASIL Disease Discovery Recruiting NCT02821780
12 Generation of a Cellular Model of CADASIL From Skin Fibroblasts Enrolling by invitation NCT02032225

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

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

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

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

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

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

39
Brain, Smooth Muscle, Skin, Eye

Publications for Cerebral Arteriopathy with Subcortical Infarcts and...

Articles related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:

id Title Authors Year
1
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy in acromegalic patient with severe headache. ( 28002537 )
2016
2
[Dominant autosomal cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A review]. ( 12396971 )
2002

Variations for Cerebral Arteriopathy with Subcortical Infarcts and...

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

66 (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:

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.

Pathways for Cerebral Arteriopathy with Subcortical Infarcts and...

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

Sources for Cerebral Arteriopathy with Subcortical Infarcts and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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