MCID: CDS001
MIFTS: 73

Cadasil malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases categories

Summaries for Cadasil

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NINDS:42 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 familial vascular leukoencephalopathy, is related to stroke, ischemic and alzheimer disease, and has symptoms including behavioral abnormality, migraine and neurological speech impairment. An important gene associated with Cadasil is NOTCH3 (notch 3), and among its related pathways are TNF signaling pathway and Dorso-ventral axis formation. The drugs risperidone and citalopram 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 integument.

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:41 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

GeneReviews summary for cadasil

Aliases & Classifications for Cadasil

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Sources:
9Disease Ontology, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Cadasil, Aliases & Descriptions:

Name: Cadasil 9 19 41 21 42 11 43 47
Familial Vascular Leukoencephalopathy 63 41 21 47 60
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 41 21 47 22
Multi-Infarct Dementia 63 42 60
Cadasil Syndrome 63 20 60
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 41 21
Brain Small Vessel Disease with Hemorrhage 47 60
Hereditary Multi-Infarct Dementia 41 47
Dementia 63 60
Retinal Arteriolar Tortuosity - Infantile Hemiparesis - Autosomal Dominant Leukoencephalopathy 47
Cerebral Autosomal Dominant Ateriopathy with Subcortical Infarcts and Leukoencephalopathy 63
 
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarctsleukoencephalopathy 19
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 63
Dementia, Hereditary Multi-Infarct Type 41
Hereditary Dementia, Multi-Infarct Type 21
Cerebrovascular Accident 60
Presenile Dementia 60
Lacunar Dementias 60
Lacunar Dementia 63
Stroke 63
Casil 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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
familial vascular leukoencephalopathy:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology9 DOID:13945
NCIt38 C84606
MeSH33 D046589
Orphanet47 136, 36383
MESH via Orphanet34 D046589, C531642
ICD10 via Orphanet26 F01.1, I67.3
UMLS via Orphanet61 C0751587, C2930808
ICD1025 F01.1

Related Diseases for Cadasil

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

(show top 50)    (show all 1108)
idRelated DiseaseScoreTop Affiliating Genes
1stroke, ischemic31.1NOTCH3, NOTCH1
2alzheimer disease31.0NOTCH3, NOTCH1, CFLAR
3alagille syndrome29.8NOTCH1, JAG1
4multiple sclerosis, disease progression, modifier of29.7CFLAR, JAG1, NOTCH3
5breast cancer29.5JAG1, NOTCH1, CFLAR, EGF
6colorectal cancer29.4CFLAR, NOTCH1, EGF
7leukemia29.3NOTCH1, CFLAR, DLL1, EGF
8lung cancer29.2NOTCH1, EGF, CFLAR
9semantic dementia11.0
10cerebritis11.0
11aids dementia complex10.9
12patent foramen ovale10.8
13factor xii deficiency10.8
14neonatal stroke10.7
15aphasia10.7
16motor neuron disease10.7
17central post-stroke pain10.6
18dementia10.6
19dementia, frontotemporal10.6
20hiv-110.6
21brain small vessel disease with or without ocular anomalies10.6
22migraine10.6
23carasil syndrome10.5
24dementia, lewy body10.5
25cerebral atrophy10.5
26hydrocephalus10.5
27carotid artery disease10.5
28atrial fibrillation and stroke10.5
29tauopathy10.5
30corticobasal degeneration10.5
31atrial septal aneurysm10.5
32carotid artery dissection10.5
33peripheral vascular disease10.5
34ataxia10.5
35dementia pugilistica10.5
36amyotrophic lateral sclerosis-parkinsonism/dementia complex10.5
37endocarditis10.5
38inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.5
39down syndrome10.4
40thrombophilia10.4
41fibromuscular dysplasia10.4
42sickle cell anemia10.4
43normal pressure hydrocephalus10.4
44grn-related frontotemporal dementia10.4
45hyperlipidemia type 310.4
46bow hunter's stroke10.4
47brain edema10.4
48vascular dementia10.4
49rem sleep behavior disorder10.4
50wallerian degeneration10.4

Graphical network of the top 20 diseases related to Cadasil:



Diseases related to cadasil

Symptoms for Cadasil

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Symptoms:

 47 (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 27)
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 hearing impairment occasional (7.5%) HP:0000365
18 hypertension occasional (7.5%) HP:0000822
19 seizures occasional (7.5%) HP:0001250
20 subcutaneous hemorrhage occasional (7.5%) HP:0001933
21 hypoglycemia occasional (7.5%) HP:0001943
22 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
23 intracranial hemorrhage occasional (7.5%) HP:0002170
24 recurrent respiratory infections occasional (7.5%) HP:0002205
25 atherosclerosis occasional (7.5%) HP:0002621
26 venous insufficiency occasional (7.5%) HP:0005293
27 peripheral neuropathy occasional (7.5%) HP:0009830

Drugs & Therapeutics for Cadasil

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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:

31
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 523)
idTitleAuthorsYear
1
The Small Leucine-Rich Proteoglycan BGN Accumulates in CADASIL and Binds to NOTCH3. (25578324)
2015
2
Recurrent status epilepticus as the primary neurological manifestation of CADASIL: A case report. (25870789)
2015
3
Cerebral Microbleed Causing an Acute Stroke-like Episode in a CADASIL Patient. (25373821)
2014
4
Visual system involvement in CADASIL. (23635925)
2013
5
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. (21852154)
2013
6
Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation. (23412372)
2013
7
Is the SHRSP [corrected] strain a suitable model of spontaneous CADASIL? (21809043)
2012
8
p.Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL. (22082899)
2011
9
Verbal memory impairment in subcortical ischemic vascular disease: a descriptive analysis in CADASIL. (20149485)
2011
10
CADASIL can mimic multiple sclerosis. (20666172)
2010
11
Genetically confirmed CADASIL in a pediatric patient. (21078731)
2010
12
Diagnostic criteria for CADASIL in the International Classification of Headache Disorders (ICHD-II): are they appropriate? (20224942)
2010
13
Adaptive metabolic changes in CADASIL white matter. (19690906)
2010
14
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka. (19683925)
2009
15
MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study. (19139365)
2009
16
CADASIL presenting as status migrainosus and persisting aura without infarction. (18953486)
2009
17
The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age. (19252787)
2009
18
Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL. (18296124)
2008
19
Is the increased expression of ubiquitin in CADASIL syndrome a manifestation of aberrant endocytosis in the vascular smooth muscle cells? (18313300)
2008
20
Psychiatric disturbances in CADASIL: a brief review. (18384453)
2008
21
CADASIL in Arabs: clinical and genetic findings. (17996090)
2007
22
Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (17218610)
2007
23
Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient. (16367901)
2006
24
Small artery dementia in Japan: radiological differences between CADASIL, leukoaraiosis and Binswanger's disease. (16391479)
2006
25
Multiple teeth extractions in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), treated with ticlopidine. (16360869)
2006
26
Postpartum psychiatric disturbances as an unrecognized onset of CADASIL. (16095483)
2005
27
CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations. (16111703)
2005
28
Peripheral neuropathy in CADASIL. (15827866)
2005
29
Intracerebral haemorrhage in CADASIL. (16227566)
2005
30
Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy. (15569862)
2005
31
CADASIL: what component of the vessel wall is really a target for Notch 3 gene mutations? (15265274)
2004
32
CADASIL or CADVaSIL? (15068168)
2004
33
"CADASIL coma": an underdiagnosed acute encephalopathy. (12531961)
2003
34
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. (12756589)
2003
35
Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis. (12511775)
2003
36
Unusual presentation of CADASIL with reversible coma and confusion. (12370482)
2002
37
Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). (11274696)
2001
38
MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. (11245715)
2001
39
An animal model for the molecular genetics of CADASIL. (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). (11136906)
2001
40
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. (11706120)
2001
41
CADASIL: Notch signaling defect or protein accumulation problem? (10712425)
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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Clinvar genetic disease variations for Cadasil:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1NOTCH3NM_000435.2(NOTCH3): c.451C> G (p.Gln151Glu)single nucleotide variantPathogenicrs371491165GRCh37Chr 19, 15302999: 15302999
2COL4A1NM_001845.4(COL4A1): c.1685G> A (p.Gly562Glu)single nucleotide variantPathogenicrs121912857GRCh37Chr 13, 110839528: 110839528
3COL4A1NM_001845.4(COL4A1): c.2159G> A (p.Gly720Asp)single nucleotide variantPathogenicrs113994108GRCh37Chr 13, 110833673: 110833673
4COL4A1NM_001845.4(COL4A1): c.1769G> A (p.Gly590Glu)single nucleotide variantPathogenicrs113994107GRCh37Chr 13, 110838860: 110838860
5NOTCH3NM_000435.2(NOTCH3): c.213G> T (p.Trp71Cys)single nucleotide variantPathogenicrs28937321GRCh37Chr 19, 15303315: 15303315
6NOTCH3NM_000435.2(NOTCH3): c.505C> T (p.Arg169Cys)single nucleotide variantPathogenicrs28933696GRCh37Chr 19, 15302945: 15302945
7NOTCH3NM_000435.2(NOTCH3): c.544C> T (p.Arg182Cys)single nucleotide variantPathogenicrs28933697GRCh37Chr 19, 15302906: 15302906
8NOTCH3NOTCH3, ALA-THRundetermined variantPathogenic
9NOTCH3NOTCH3, 45-BP DELdeletionPathogenic
10NOTCH3NM_000435.2(NOTCH3): c.1363T> C (p.Cys455Arg)single nucleotide variantPathogenicrs28933698GRCh37Chr 19, 15299815: 15299815
11NOTCH3NM_000435.2(NOTCH3): c.994C> T (p.Arg332Cys)single nucleotide variantPathogenicrs137852641GRCh37Chr 19, 15302277: 15302277
12NOTCH3NM_000435.2(NOTCH3): c.397C> T (p.Arg133Cys)single nucleotide variantPathogenicrs137852642GRCh37Chr 19, 15303053: 15303053
13NOTCH3NOTCH3, IVS15AS, G-T, -1single nucleotide variantPathogenic
14NOTCH3NM_000435.2(NOTCH3): c.1282T> A (p.Cys428Ser)single nucleotide variantPathogenicrs267606915GRCh37Chr 19, 15299896: 15299896

Expression for genes affiliated with Cadasil

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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 Suite gene sharing:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CFLAR, JAG1
29.3NOTCH1, NOTCH3
39.3NOTCH3, NOTCH1
4
Show member pathways
9.3NOTCH3, NOTCH1
59.3NOTCH3, NOTCH1
6
Show member pathways
9.2NOTCH1, JAG1
79.1NOTCH1, DLL1
88.8NOTCH1, JAG1, NOTCH3
98.8NOTCH1, DLL1, NOTCH3
10
Show member pathways
8.7JAG1, DLL1, NOTCH1
11
Show member pathways
Development Notch Signaling Pathway58
Transcription Sin3 and NuRD in transcription regulation58
8.7NOTCH1, DLL1, JAG1
12
Show member pathways
8.3NOTCH3, DLL1, JAG1, NOTCH1
138.3JAG1, NOTCH1, NOTCH3, DLL1
14
Show member pathways
Notch signaling pathway36
8.3NOTCH1, NOTCH3, DLL1, JAG1
158.3NOTCH3, JAG1, DLL1, NOTCH1
16
Show member pathways
8.1NOTCH3, NOTCH1, DLL1, EGF
178.1JAG1, EGF, NOTCH1, DLL1
18
Show member pathways
7.7COL4A1, EGF, CFLAR, NOTCH3, NOTCH1
19
Show member pathways
Delta-Notch Signaling Pathway36
Notch Signaling Pathway36
7.7DLL1, EGF, NOTCH1, NOTCH3, JAG1
20
Show member pathways
7.3JAG1, NOTCH3, COL4A1, DLL1, NOTCH1, EGF

Compounds for genes affiliated with Cadasil

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Compounds related to Cadasil according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1chelerythrine439.6CFLAR, EGF
2sorafenib43 49 1211.5EGF, CFLAR
3irinotecan43 49 1211.5CFLAR, EGF
4anisomycin43 1210.5EGF, CFLAR
5geldanamycin43 49 59 1212.4CFLAR, EGF
6rapamycin438.8EGF, CFLAR, NOTCH1
7ly294002438.8CFLAR, NOTCH1, EGF
8doxorubicin43 49 1210.7CFLAR, NOTCH1, EGF
9vegf438.5EGF, NOTCH1, CFLAR
10threonine438.5NOTCH1, EGF, CFLAR
11phosphatidylinositol438.4CFLAR, NOTCH1, EGF
12nitric oxide43 24 1210.4CFLAR, JAG1, NOTCH1
13tyrosine438.2COL4A1, CFLAR, NOTCH1, EGF

GO Terms for genes affiliated with Cadasil

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Cellular components related to Cadasil according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432359.3NOTCH1, NOTCH3
2plasma membraneGO:00058867.4JAG1, DLL1, NOTCH3, NOTCH1, EGF
3extracellular regionGO:00055767.2EGF, NOTCH1, NOTCH3, DLL1, COL4A1, JAG1

Biological processes related to Cadasil according to GeneCards Suite gene sharing:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1loop of Henle developmentGO:00720709.8JAG1, DLL1
2negative regulation of neuron differentiationGO:00456659.8JAG1, NOTCH3
3cell fate determinationGO:00017099.7JAG1, DLL1
4positive regulation of Notch signaling pathwayGO:00457479.7DLL1, JAG1
5distal tubule developmentGO:00720179.5NOTCH1, JAG1
6negative regulation of stem cell differentiationGO:020007379.5NOTCH1, JAG1
7cardiac septum morphogenesisGO:00604119.5JAG1, NOTCH1
8pulmonary valve morphogenesisGO:00031849.5NOTCH1, JAG1
9Notch signaling involved in heart developmentGO:00613149.5NOTCH1, JAG1
10compartment pattern specificationGO:00073869.4NOTCH1, DLL1
11response to muramyl dipeptideGO:00324959.4JAG1, NOTCH1
12left/right axis specificationGO:00709869.4DLL1, NOTCH1
13determination of left/right symmetryGO:00073689.3DLL1, NOTCH1
14branching morphogenesis of an epithelial tubeGO:00487549.2NOTCH1, EGF
15keratinocyte differentiationGO:00302169.2NOTCH1, JAG1
16heart loopingGO:00019479.2NOTCH1, DLL1
17hemopoiesisGO:00300979.2JAG1, DLL1
18forebrain developmentGO:00309009.2NOTCH3, NOTCH1
19neuronal stem cell maintenanceGO:00971509.0JAG1, DLL1, NOTCH1
20positive regulation of transcription from RNA polymerase II promoterGO:00459448.7JAG1, NOTCH1, DLL1
21Notch receptor processingGO:00072208.7DLL1, JAG1, NOTCH3, NOTCH1
22Notch signaling pathwayGO:00072198.6JAG1, DLL1, NOTCH3, NOTCH1

Molecular functions related to Cadasil according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:00051129.5JAG1, DLL1
2calcium ion bindingGO:00055097.6EGF, NOTCH1, NOTCH3, DLL1, JAG1
3protein bindingGO:00055156.4CFLAR, JAG1, COL4A1, DLL1, NOTCH3, NOTCH1

Products for genes affiliated with Cadasil

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Sources for Cadasil

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet