CASIL
MCID: CDS001
MIFTS: 84

Cadasil (CASIL) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Mental diseases categories
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Summaries for Cadasil

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NINDS:43 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: Cadasil, also known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is related to stroke, ischemic and multiple sclerosis, and has symptoms including retinal vascular anomalies/retinal telangiectasia, transient amaurosis/acute visual trouble and facial pain/cephalalgia/migraine. An important gene associated with Cadasil is NOTCH3 (notch 3), and among its related pathways are Neural Crest Differentiation and Pre-NOTCH Expression and Processing. The drugs pentoxifylline and warfarin and the compounds chelerythrine and sorafenib have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and smooth muscle, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Genetics Home Reference:21 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:42 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: 3/22/2011

Wikipedia:65 CADASIL (\"Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy\")... more...

Description from OMIM:46 125310

GeneReviews summary for cadasil

Aliases & Classifications for Cadasil

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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 65Wikipedia, 62UMLS, 20GeneTests, 46OMIM, 22GTR, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Cadasil, Aliases & Descriptions:

Name: Cadasil 8 19 42 21 43 10 44 48
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 42 22 21 48
Familial Vascular Leukoencephalopathy 65 42 21 62
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 42 21 46
Cadasil Syndrome 65 20 62
Multi-Infarct Dementia 65 62
Dementia 65 62
Stroke 65 62
Cerebral Autosomal Dominant Ateriopathy with Subcortical Infarcts and Leukoencephalopathy 65
 
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarctsleukoencephalopathy 19
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 65
Dementia, Hereditary Multi-Infarct Type 42
Hereditary Dementia, Multi-Infarct Type 21
Hereditary Multi-Infarct Dementia 48
Lacunar Dementias 62
Lacunar Dementia 65
Casil 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
cadasil:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


External Ids:

Disease Ontology8 DOID:13945
MeSH34 D046589
NCIt39 C84606
OMIM46 125310
MESH via Orphanet35 D046589
ICD10 via Orphanet26 F01.1
UMLS via Orphanet63 C0751587

Related Diseases for Cadasil

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Diseases related to Cadasil via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 1110)
idRelated DiseaseScoreTop Affiliating Genes
1stroke, ischemic30.9NOTCH1, NOTCH3
2multiple sclerosis30.2CFLAR, JAG1, NOTCH3
3alzheimer's disease30.0CFLAR, NOTCH3, NOTCH1
4breast cancer29.9EGF, NOTCH1
5stomach cancer29.8EGF, JAG1, CFLAR
6cervical cancer29.6NOTCH1, JAG1
7bladder carcinoma29.5CFLAR, EGF
8adenocarcinoma29.5CFLAR, NOTCH1, EGF
9leukemia29.4CFLAR, NOTCH1, EGF
10choriocarcinoma29.4EGF, CFLAR
11brain cancer29.3EGF, NOTCH1
12lung cancer29.2EGF, NOTCH1, CFLAR
13prostate cancer29.1EGF, NOTCH1, CFLAR
14cerebritis10.9
15aids dementia complex10.9
16patent foramen ovale10.8
17factor xii deficiency10.8
18hypertension10.8
19spasticity10.7
20lactic acidosis10.7
21neonatal stroke10.7
22aphasia10.7
23motor neuron disease10.6
24atherosclerosis10.6
25central post-stroke pain10.6
26carotid stenosis10.6
27dementia10.6
28pick's disease10.6
29encephalomyopathy10.6
30dysphagia10.6
31mitochondrial encephalomyopathy10.6
32cerebral artery occlusion10.6
33hiv-110.6
34carotid artery occlusion10.5
35migraine10.5
36mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.5
37carotid artery disease10.5
38atrial septal aneurysm10.5
39peripheral vascular disease10.5
40apraxia10.5
41tauopathy10.5
42carotid artery dissection10.5
43dementia pugilistica10.5
44melas syndrome10.5
45thromboembolism10.4
46grn-related frontotemporal dementia10.4
47inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.4
48sickle cell anemia10.4
49pneumonia10.4
50thrombophilia10.4

Graphical network of the top 20 diseases related to Cadasil:



Diseases related to cadasil

Symptoms for Cadasil

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Symptoms by clinical synopsis from OMIM:

125310

Clinical features from OMIM:

125310

Symptoms:

48 (show all 33)
  • retinal vascular anomalies/retinal telangiectasia
  • transient amaurosis/acute visual trouble
  • facial pain/cephalalgia/migraine
  • motor deficit/trouble
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • sensitive trouble/deficit
  • obnubilation/coma/lethargia/desorientation
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • autosomal dominant inheritance
  • fever/chilling
  • mild visual loss/impaired visual acuity
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • cranial nerves palsy
  • transient cerebral ischemia/stroke
  • eeg anomalies
  • abnormal gait
  • hypertonia/spasticity/rigidity/stiffness
  • troubles of memory/amnesia/hypermnesia
  • hearing loss/hypoacusia/deafness
  • repeat respiratory infections
  • chronic arterial hypertension
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • varices/varicous veins/venous insufficiency
  • hypoglycemia
  • peripheral neuropathy
  • extrapyramidal syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intracranial/cerebral/meningeal hemorrhage
  • mucosal/cutaneous hemorrhage
  • early death/lethality

HPO human phenotypes related to Cadasil:

(show all 46)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 migraine hallmark (90%) HP:0002076
3 neurological speech impairment hallmark (90%) HP:0002167
4 developmental regression hallmark (90%) HP:0002376
5 abnormality of temperature regulation hallmark (90%) HP:0004370
6 reduced consciousness/confusion hallmark (90%) HP:0004372
7 hemiplegia/hemiparesis hallmark (90%) HP:0004374
8 abnormality of the retinal vasculature hallmark (90%) HP:0008046
9 amaurosis fugax hallmark (90%) HP:0100576
10 hypertonia typical (50%) HP:0001276
11 gait disturbance typical (50%) HP:0001288
12 cerebral cortical atrophy typical (50%) HP:0002120
13 eeg abnormality typical (50%) HP:0002353
14 memory impairment typical (50%) HP:0002354
15 cerebral ischemia typical (50%) HP:0002637
16 cranial nerve paralysis typical (50%) HP:0006824
17 behavioral abnormality 9% HP:0000708
18 hearing impairment occasional (7.5%) HP:0000365
19 hypertension occasional (7.5%) HP:0000822
20 seizures occasional (7.5%) HP:0001250
21 subcutaneous hemorrhage occasional (7.5%) HP:0001933
22 hypoglycemia occasional (7.5%) HP:0001943
23 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
24 intracranial hemorrhage occasional (7.5%) HP:0002170
25 recurrent respiratory infections occasional (7.5%) HP:0002205
26 atherosclerosis occasional (7.5%) HP:0002621
27 venous insufficiency occasional (7.5%) HP:0005293
28 peripheral neuropathy occasional (7.5%) HP:0009830
29 visual loss rare (5%) HP:0000572
30 peripheral neuropathy rare (5%) HP:0009830
31 autosomal dominant inheritance HP:0000006
32 urinary incontinence HP:0000020
33 abnormal electroretinogram HP:0000512
34 abnormality of vision evoked potentials HP:0000649
35 abnormality of the skin HP:0000951
36 seizures HP:0001250
37 gait disturbance HP:0001288
38 stroke HP:0001297
39 migraine HP:0002076
40 leukoencephalopathy HP:0002352
41 varicose veins HP:0002619
42 adult onset HP:0003581
43 pseudobulbar paralysis HP:0007024
44 subcortical dementia HP:0007123
45 recurrent subcortical infarcts HP:0007236
46 nonarteritic anterior ischemic optic neuropathy HP:0007634

Drugs & Therapeutics for Cadasil

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Drug clinical trials:

Search ClinicalTrials for Cadasil

Search NIH Clinical Center for Cadasil

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Cadasil

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Genetic tests related to Cadasil:

id Genetic test Affiliating Genes
1 Cadasil20 NOTCH3
2 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy22

Anatomical Context for Cadasil

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MalaCards organs/tissues related to Cadasil:

32
Brain, Heart, Smooth muscle, Testes, Skin, Eye, Cortex, Endothelial, Skeletal muscle, Spinal cord, Temporal lobe, Thalamus, Caudate nucleus

Animal Models for Cadasil or affiliated genes

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Publications for Cadasil

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Articles related to Cadasil:

(show top 50)    (show all 513)
idTitleAuthorsYear
1
Cerebral Microbleed Causing an Acute Stroke-like Episode in a CADASIL Patient. (25373821)
2014
2
Visual system involvement in CADASIL. (23635925)
2013
3
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. (21852154)
2013
4
Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation. (23412372)
2013
5
Is the SHRSP [corrected] strain a suitable model of spontaneous CADASIL? (21809043)
2012
6
p.Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL. (22082899)
2011
7
Verbal memory impairment in subcortical ischemic vascular disease: a descriptive analysis in CADASIL. (20149485)
2011
8
CADASIL can mimic multiple sclerosis. (20666172)
2010
9
Genetically confirmed CADASIL in a pediatric patient. (21078731)
2010
10
Diagnostic criteria for CADASIL in the International Classification of Headache Disorders (ICHD-II): are they appropriate? (20224942)
2010
11
Adaptive metabolic changes in CADASIL white matter. (19690906)
2010
12
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka. (19683925)
2009
13
MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study. (19139365)
2009
14
CADASIL presenting as status migrainosus and persisting aura without infarction. (18953486)
2009
15
The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age. (19252787)
2009
16
Periodontal disease as an early clinical sign of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. (19859875)
2009
17
Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL. (18296124)
2008
18
Is the increased expression of ubiquitin in CADASIL syndrome a manifestation of aberrant endocytosis in the vascular smooth muscle cells? (18313300)
2008
19
Psychiatric disturbances in CADASIL: a brief review. (18384453)
2008
20
CADASIL in Arabs: clinical and genetic findings. (17996090)
2007
21
Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (17218610)
2007
22
Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient. (16367901)
2006
23
Small artery dementia in Japan: radiological differences between CADASIL, leukoaraiosis and Binswanger's disease. (16391479)
2006
24
Multiple teeth extractions in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), treated with ticlopidine. (16360869)
2006
25
Postpartum psychiatric disturbances as an unrecognized onset of CADASIL. (16095483)
2005
26
CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations. (16111703)
2005
27
Peripheral neuropathy in CADASIL. (15827866)
2005
28
Intracerebral haemorrhage in CADASIL. (16227566)
2005
29
Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy. (15569862)
2005
30
CADASIL: what component of the vessel wall is really a target for Notch 3 gene mutations? (15265274)
2004
31
CADASIL or CADVaSIL? (15068168)
2004
32
"CADASIL coma": an underdiagnosed acute encephalopathy. (12531961)
2003
33
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. (12756589)
2003
34
Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis. (12511775)
2003
35
Unusual presentation of CADASIL with reversible coma and confusion. (12370482)
2002
36
Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). (11274696)
2001
37
MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. (11245715)
2001
38
An animal model for the molecular genetics of CADASIL. (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). (11136906)
2001
39
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. (11706120)
2001
40
CADASIL: Notch signaling defect or protein accumulation problem? (10712425)
2000
41
Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. (11058919)
2000
42
Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking. (10926955)
2000
43
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) characteristics in Japan: variety of clinical features. (10969895)
2000
44
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): diagnostic skin biopsy changes determined by electron microscopy. (11100036)
2000
45
Characteristic MR lesion pattern and correlation of T1 and T2 lesion volume with neurologic and neuropsychological findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (9974062)
1999
46
Cognitive alterations in non-demented CADASIL patients. (9548007)
1998
47
CADASIL: a review with proposed diagnostic criteria. (10210836)
1998
48
Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening. (9808243)
1998
49
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only. (9633716)
1998
50
Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. (7783868)
1995

Variations for Cadasil

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UniProtKB/Swiss-Prot genetic disease variations for Cadasil:

64 (show all 108)
id Symbol AA change Variation ID SNP ID
1NOTCH3p.Cys49TyrVAR_012871
2NOTCH3p.Trp71CysVAR_012872rs28937321
3NOTCH3p.Arg90CysVAR_012873
4NOTCH3p.Arg110CysVAR_012874
5NOTCH3p.Arg133CysVAR_012876
6NOTCH3p.Arg141CysVAR_012877
7NOTCH3p.Cys146ArgVAR_012878
8NOTCH3p.Arg153CysVAR_012879
9NOTCH3p.Arg169CysVAR_012880rs28933696
10NOTCH3p.Gly171CysVAR_012882
11NOTCH3p.Arg182CysVAR_012883rs28933697
12NOTCH3p.Cys185ArgVAR_012884
13NOTCH3p.Cys212SerVAR_012885
14NOTCH3p.Cys222GlyVAR_012886
15NOTCH3p.Cys224TyrVAR_012887
16NOTCH3p.Tyr258CysVAR_012888
17NOTCH3p.Cys542TyrVAR_012890
18NOTCH3p.Arg558CysVAR_012891
19NOTCH3p.Arg578CysVAR_012892
20NOTCH3p.Arg728CysVAR_012893
21NOTCH3p.Arg985CysVAR_012894
22NOTCH3p.Arg1006CysVAR_012895
23NOTCH3p.Arg1031CysVAR_012896
24NOTCH3p.Arg1231CysVAR_012899
25NOTCH3p.Cys1261ArgVAR_012900
26NOTCH3p.Cys43GlyVAR_044230
27NOTCH3p.Cys49PheVAR_044231
28NOTCH3p.Arg54CysVAR_044232
29NOTCH3p.Ser60CysVAR_044233
30NOTCH3p.Cys65SerVAR_044234
31NOTCH3p.Cys67TyrVAR_044235
32NOTCH3p.Cys76ArgVAR_044236
33NOTCH3p.Cys76TrpVAR_044237
34NOTCH3p.Cys87ArgVAR_044240
35NOTCH3p.Cys87TyrVAR_044241
36NOTCH3p.Cys93PheVAR_044242
37NOTCH3p.Cys93TyrVAR_044243
38NOTCH3p.Cys106TrpVAR_044244
39NOTCH3p.Cys108TrpVAR_044245
40NOTCH3p.Cys108TyrVAR_044246
41NOTCH3p.Cys117PheVAR_044247
42NOTCH3p.Ser118CysVAR_044248
43NOTCH3p.Cys123PheVAR_044249
44NOTCH3p.Cys123TyrVAR_044250
45NOTCH3p.Cys128TyrVAR_044251
46NOTCH3p.Cys134TrpVAR_044252
47NOTCH3p.Phe142CysVAR_044253
48NOTCH3p.Cys144PheVAR_044254
49NOTCH3p.Cys144SerVAR_044255
50NOTCH3p.Cys144TyrVAR_044256
51NOTCH3p.Ser145CysVAR_044257
52NOTCH3p.Gly149CysVAR_044258
53NOTCH3p.Tyr150CysVAR_044259
54NOTCH3p.Cys155SerVAR_044261
55NOTCH3p.Cys162SerVAR_044262
56NOTCH3p.Cys174PheVAR_044263
57NOTCH3p.Cys174ArgVAR_044264
58NOTCH3p.Cys174TyrVAR_044265
59NOTCH3p.Ser180CysVAR_044266
60NOTCH3p.Cys183PheVAR_044267
61NOTCH3p.Cys183ArgVAR_044268
62NOTCH3p.Cys183SerVAR_044269
63NOTCH3p.Cys185GlyVAR_044270
64NOTCH3p.Tyr189CysVAR_044271
65NOTCH3p.Cys194PheVAR_044272
66NOTCH3p.Cys194ArgVAR_044273
67NOTCH3p.Cys194SerVAR_044274
68NOTCH3p.Cys194TyrVAR_044275
69NOTCH3p.Cys201TyrVAR_044276
70NOTCH3p.Cys206TyrVAR_044277
71NOTCH3p.Arg207CysVAR_044278
72NOTCH3p.Arg213LysVAR_044279
73NOTCH3p.Cys222TyrVAR_044280
74NOTCH3p.Cys233SerVAR_044281
75NOTCH3p.Cys233TyrVAR_044282
76NOTCH3p.Cys240SerVAR_044284
77NOTCH3p.Cys245ArgVAR_044285
78NOTCH3p.Cys251ArgVAR_044286
79NOTCH3p.Cys260TyrVAR_044287
80NOTCH3p.Ala319CysVAR_044288
81NOTCH3p.Arg332CysVAR_044289
82NOTCH3p.Ser335CysVAR_044290
83NOTCH3p.Tyr337CysVAR_044291
84NOTCH3p.Cys379SerVAR_044292
85NOTCH3p.Cys395ArgVAR_044293
86NOTCH3p.Gly420CysVAR_044294
87NOTCH3p.Arg421CysVAR_044295
88NOTCH3p.Cys428SerVAR_044296
89NOTCH3p.Cys428TyrVAR_044297
90NOTCH3p.Cys440GlyVAR_044298
91NOTCH3p.Cys440ArgVAR_044299
92NOTCH3p.Cys446SerVAR_044300
93NOTCH3p.Arg449CysVAR_044301
94NOTCH3p.Cys455ArgVAR_044302rs28933698
95NOTCH3p.Cys484PheVAR_044303
96NOTCH3p.Cys484TyrVAR_044304
97NOTCH3p.Cys495TyrVAR_044305
98NOTCH3p.Cys511ArgVAR_044306
99NOTCH3p.Arg544CysVAR_044307rs201118034
100NOTCH3p.Cys549TyrVAR_044308
101NOTCH3p.Arg607CysVAR_044309
102NOTCH3p.Cys775SerVAR_044310
103NOTCH3p.Gly953CysVAR_044311
104NOTCH3p.Phe984CysVAR_044312
105NOTCH3p.Cys1015ArgVAR_044313
106NOTCH3p.Tyr1021CysVAR_044315
107NOTCH3p.Asp1063CysVAR_044316
108NOTCH3p.Cys1261TyrVAR_044317

Clinvar genetic disease variations for Cadasil:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1NOTCH3NM_000435.2(NOTCH3): c.451C> G (p.Gln151Glu)single nucleotide variantPathogenicrs371491165GRCh37Chr 19, 15302999: 15302999
2NOTCH3NM_000435.2(NOTCH3): c.213G> T (p.Trp71Cys)single nucleotide variantPathogenicrs28937321GRCh37Chr 19, 15303315: 15303315
3NOTCH3NM_000435.2(NOTCH3): c.505C> T (p.Arg169Cys)single nucleotide variantPathogenicrs28933696GRCh37Chr 19, 15302945: 15302945
4NOTCH3NM_000435.2(NOTCH3): c.544C> T (p.Arg182Cys)single nucleotide variantPathogenicrs28933697GRCh37Chr 19, 15302906: 15302906
5NOTCH3NOTCH3, ALA-THRundetermined variantPathogenic
6NOTCH3NOTCH3, 45-BP DELdeletionPathogenic
7NOTCH3NM_000435.2(NOTCH3): c.1363T> C (p.Cys455Arg)single nucleotide variantPathogenicrs28933698GRCh37Chr 19, 15299815: 15299815
8NOTCH3NM_000435.2(NOTCH3): c.994C> T (p.Arg332Cys)single nucleotide variantPathogenicrs137852641GRCh37Chr 19, 15302277: 15302277
9NOTCH3NM_000435.2(NOTCH3): c.397C> T (p.Arg133Cys)single nucleotide variantPathogenicrs137852642GRCh37Chr 19, 15303053: 15303053
10NOTCH3NOTCH3, IVS15AS, G-T, -1single nucleotide variantPathogenic
11NOTCH3NM_000435.2(NOTCH3): c.1282T> A (p.Cys428Ser)single nucleotide variantPathogenicrs267606915GRCh37Chr 19, 15299896: 15299896

Expression for genes affiliated with Cadasil

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Expression patterns in normal tissues for genes affiliated with Cadasil

Search GEO for disease gene expression data for Cadasil.

Pathways for genes affiliated with Cadasil

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Pathways related to Cadasil according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5NOTCH3, NOTCH1
2
Show member pathways
9.5NOTCH1, NOTCH3
39.5NOTCH1, NOTCH3
49.5NOTCH3, NOTCH1
59.5NOTCH1, NOTCH3
6
Show member pathways
9.4JAG1, NOTCH1
7
Show member pathways
Development Notch Signaling Pathway60
Transcription Sin3 and NuRD in transcription regulation60
9.4NOTCH1, JAG1
8
Show member pathways
9.4NOTCH1, JAG1
99.3JAG1, CFLAR
109.0JAG1, NOTCH3, NOTCH1
11
Show member pathways
Notch signaling pathway37
9.0NOTCH1, NOTCH3, JAG1
129.0NOTCH1, NOTCH3, JAG1
13
Show member pathways
9.0JAG1, NOTCH3, NOTCH1
149.0NOTCH1, NOTCH3, JAG1
15
Show member pathways
8.7EGF, NOTCH1, NOTCH3
168.6EGF, NOTCH1, JAG1
17
Show member pathways
Delta-Notch Signaling Pathway37
Notch Signaling Pathway37
8.2EGF, NOTCH1, NOTCH3, JAG1
18
Show member pathways
8.2JAG1, NOTCH3, NOTCH1, EGF
19
Show member pathways
8.1CFLAR, NOTCH3, NOTCH1, EGF

Compounds for genes affiliated with Cadasil

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Compounds related to Cadasil according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1chelerythrine449.3EGF, CFLAR
2sorafenib44 50 1111.3CFLAR, EGF
3irinotecan44 50 1111.3EGF, CFLAR
4anisomycin44 1110.3EGF, CFLAR
5geldanamycin44 50 61 1112.2EGF, CFLAR
6mg 13244 6110.0CFLAR, EGF
75fluorouracil449.0EGF, CFLAR
8nitric oxide44 24 1110.9NOTCH1, JAG1, CFLAR
9rapamycin448.8EGF, NOTCH1, CFLAR
10ly294002448.8EGF, NOTCH1, CFLAR
11doxorubicin44 50 1110.8CFLAR, NOTCH1, EGF
12vegf448.7CFLAR, NOTCH1, EGF
13phosphatidylinositol448.7CFLAR, NOTCH1, EGF
14threonine448.6CFLAR, NOTCH1, EGF
15retinoic acid44 249.4CFLAR, NOTCH1, EGF
16calcium44 50 24 1111.3CFLAR, NOTCH3, NOTCH1, EGF
17cysteine448.3EGF, NOTCH3, CFLAR

GO Terms for genes affiliated with Cadasil

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Cellular components related to Cadasil according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.2NOTCH3, NOTCH1
2plasma membraneGO:0058868.2EGF, NOTCH1, NOTCH3, JAG1
3extracellular regionGO:0055768.1EGF, NOTCH1, NOTCH3, JAG1

Biological processes related to Cadasil according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1distal tubule developmentGO:0720179.7NOTCH1, JAG1
2negative regulation of stem cell differentiationGO:20007379.7NOTCH1, JAG1
3cardiac septum morphogenesisGO:0604119.7JAG1, NOTCH1
4pulmonary valve morphogenesisGO:0031849.7NOTCH1, JAG1
5Notch signaling involved in heart developmentGO:0613149.6NOTCH1, JAG1
6response to muramyl dipeptideGO:0324959.6JAG1, NOTCH1
7neuronal stem cell maintenanceGO:0971509.6NOTCH1, JAG1
8negative regulation of neuron differentiationGO:0456659.6NOTCH3, JAG1
9forebrain developmentGO:0309009.5NOTCH3, NOTCH1
10keratinocyte differentiationGO:0302169.3JAG1, NOTCH1
11Notch receptor processingGO:0072209.3NOTCH1, NOTCH3, JAG1
12branching morphogenesis of an epithelial tubeGO:0487549.2EGF, NOTCH1
13Notch signaling pathwayGO:0072199.2NOTCH1, NOTCH3, JAG1
14transcription initiation from RNA polymerase II promoterGO:0063679.2NOTCH1, NOTCH3
15angiogenesisGO:0015259.1EGF, JAG1

Molecular functions related to Cadasil according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.1EGF, JAG1
2calcium ion bindingGO:0055098.1EGF, NOTCH1, NOTCH3, JAG1
3protein bindingGO:0055157.2CFLAR, JAG1, NOTCH3, NOTCH1, EGF

Products for genes affiliated with Cadasil

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cadasil

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet