CASIL
MCID: CDS001
MIFTS: 92

Cadasil (CASIL) malady

Neuronal diseases, Eye diseases, Cardiovascular diseases, Genetic diseases categories

Summaries for Cadasil

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Cadasil, also known as stroke, is related to dementia and pick's disease, and has symptoms including sensitive trouble/deficit, arterial atheroma/precocious atherosclerosis/arteriosclerosis and varices/varicous veins/venous insufficiency. An important gene associated with Cadasil is NOTCH3 (notch 3), and among its related pathways are Regulation of innate immune responses to cytosolic DNA and Dorso-ventral axis formation. The drugs pentoxifylline and warfarin and the compounds cycloheximide and serine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and smooth muscle, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

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

MedlinePlus:33 A stroke is a medical emergency. strokes happen when blood flow to your brain stops. within minutes, brain cells begin to die. there are two kinds of stroke. the more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. the other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. "mini-strokes" or transient ischemic attacks (tias), occur when the blood supply to the brain is briefly interrupted. symptoms of stroke are sudden numbness or weakness of the face, arm or leg (especially on one side of the body) sudden confusion, trouble speaking or understanding speech sudden trouble seeing in one or both eyes sudden trouble walking, dizziness, loss of balance or coordination sudden severe headache with no known cause if you have any of these symptoms, you must get to a hospital quickly to begin treatment. acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. drug therapy with blood thinners is the most common treatment for stroke. nih: national institute of neurological disorders and stroke

Wikipedia:63 CADASIL (\"Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy\")... more...

Description from OMIM:46 125310,601367

GeneReviews summary for cadasil

Aliases & Classifications for Cadasil

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60UMLS, 8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 63Wikipedia, 20GeneTests, 46OMIM, 33MedlinePlus, 22GTR, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

cadasil 8 19 42 21 43 10 44 48
stroke 63 43 46 44 33
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 42 22 21 48
familial vascular leukoencephalopathy 63 42 21 60
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 42 21 46
cadasil syndrome 63 20 60
multi-infarct dementia 63 60
dementia 63 60
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 42
hereditary dementia, multi-infarct type 21
hereditary multi-infarct dementia 48
cerebrovascular accident 60
lacunar dementias 60
lacunar dementia 63
casil 42


External Ids:

Disease Ontology8 DOID:13945
NCIt39 C84606
MeSH34 D046589
OMIM46 125310
MESH via Orphanet35 D046589
ICD10 via Orphanet26 F01.1, I67.8
SNOMED-CT via Orphanet57 390936003

Related Diseases for Cadasil

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Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 986)
idRelated DiseaseScoreTop Affiliating Genes
1dementia30.8RPS27A, APOE, NRP1, NOTCH3
2pick's disease30.8APOE, RPS27A
3hypertension30.8APOE, MTHFR, NOTCH1
4migraine30.7NOTCH4, NOTCH3, MTHFR
5thrombophilia30.6MTHFR, SERPINC1
6vascular dementia30.5APOE, NOTCH3, NOTCH4
7stroke, ischemic30.5SERPINC1, NOTCH3, MTHFR
8down syndrome30.5MTHFR, APOE
9transient cerebral ischemia30.5MTHFR, NOTCH3
10binswanger's disease30.4NOTCH3, APOE
11semantic dementia30.3RPS27A
12arthritis30.3CFLAR
13lupus erythematosus30.3SERPINC1, TREX1
14rheumatoid arthritis30.3MTHFR, NRP1, CFLAR, NOTCH4, ALOX5AP
15atherosclerosis30.3ALOX5AP, SERPINC1, NRP1, MTHFR, APOE
16multiple sclerosis30.1APOE, JAG1, CFLAR, NOTCH3
17vascular disease30.1APOE, MTHFR, NOTCH3, SERPINC1
18psoriasis30.1EGF
19purpura30.1SERPINC1
20eclampsia30.1SERPINC1, MTHFR
21protein s deficiency30.1MTHFR, SERPINC1
22thyroid cancer30.1CFLAR, NRP1, EGF
23antithrombin iii deficiency30.1MTHFR, SERPINC1
24diabetes mellitus30.1CASP3, APOE, MTHFR, SERPINC1
25cerebrovascular disease30.0APOE, MTHFR, NOTCH3
26stomach cancer30.0CASP3, JAG1, EGF, MTHFR, CFLAR
27sarcoma30.0CFLAR
28alzheimer's disease30.0RPS27A, CASP3, APOE, NRP1, CFLAR, NOTCH3
29kaposi's sarcoma29.9RBPJ
30tetralogy of fallot29.9JAG1
31adenocarcinoma29.8CASP3, EGF, NRP1, CFLAR, NOTCH1, ALOX5AP
32leukemia29.8CASP3, EGF, MTHFR, NRP1, DLL1, CFLAR
33breast cancer29.8ALOX5AP, RPS27A, CASP3, JAG1, EGF, MTHFR
34thrombocytopenia29.8SERPINC1
35ischemia29.8CASP3, CFLAR
36progressive supranuclear palsy29.8APOE
37amyotrophic lateral sclerosis29.8RPS27A, CASP3
38prion disease29.8CASP3, SERPINC1
39schizophrenia29.8NOTCH4, NRP1, MTHFR
40myocardial infarction29.8APOE, MTHFR, SERPINC1, ALOX5AP
41arteriosclerosis29.8MTHFR
42pseudobulbar palsy29.8NOTCH3, NOTCH4
43acute leukemia29.7NOTCH1, MTHFR
44adenoma29.7NRP1, MTHFR
45cataract29.5RPS27A
46astrocytoma29.5NRP1, EGF
47homocystinuria29.5SERPINC1, MTHFR
48meningioma29.5EGF
49herpes simplex29.5CFLAR, RPS27A
50osteoarthritis29.5NRP1, CFLAR, NOTCH1, ALOX5AP

Graphical network of the top 20 diseases related to Cadasil:



Diseases related to cadasil

Clinical Features for Cadasil

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

125310,601367

Clinical synopsis from OMIM:

125310

Symptoms:

48 (show all 33)
  • sensitive trouble/deficit
  • 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
  • chronic arterial hypertension
  • repeat respiratory infections
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychic/behavioural troubles
  • psychic/psychomotor regression/dementia/intellectual decline
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • obnubilation/coma/lethargia/desorientation
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • motor deficit/trouble
  • facial pain/cephalalgia/migraine
  • transient amaurosis/acute visual trouble
  • autosomal dominant inheritance
  • fever/chilling
  • hearing loss/hypoacusia/deafness
  • troubles of memory/amnesia/hypermnesia
  • hypertonia/spasticity/rigidity/stiffness
  • abnormal gait
  • eeg anomalies
  • transient cerebral ischemia/stroke
  • cranial nerves palsy
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • mild visual loss/impaired visual acuity
  • retinal vascular anomalies/retinal telangiectasia

Drugs & Therapeutics for Cadasil

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Cadasil

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Cadasil:

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

Animal Models for Cadasil or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cadasil:

36 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.2RBPJ
2MP:000537710.2DLL3, NOTCH3, NOTCH1
3MP:000539110.0JAG1, EGF, TREX1, DLL3
4MP:00053679.9DLL1, TREX1, RBPJ, JAG1
5MP:00107719.8CASP3, JAG1, MESP2, TREX1, NOTCH1
6MP:00053719.6DLL3, DLL1, POFUT1, MESP2
7MP:00053799.5CASP3, EGF, POFUT1, DLL1, NOTCH1
8MP:00053909.3CASP3, MESP2, POFUT1, DLL3, NOTCH3, NOTCH1
9MP:00053809.3MESP2, RBPJ, POFUT1, DLL3, NOTCH3, NOTCH4
10MP:00053818.9CASP3, APOE, JAG1, RBPJ, EGF, TREX1
11MP:00053898.9CASP3, EGF, MTHFR, POFUT1, DLL3, NOTCH3
12MP:00053888.8CASP3, RBPJ, TREX1, POFUT1, NOTCH3, NOTCH1
13MP:00053978.5CASP3, APOE, JAG1, RBPJ, TREX1, DLL1
14MP:00036318.4CASP3, APOE, MESP2, RBPJ, NRP1, POFUT1
15MP:00053698.3RBPJ, MESP2, JAG1, APOE, CASP3, TREX1
16MP:00053858.1CASP3, APOE, JAG1, MESP2, RBPJ, NRP1
17MP:00053768.0MTHFR, RBPJ, JAG1, APOE, CASP3, TREX1
18MP:00053877.9CASP3, APOE, RBPJ, EGF, NRP1, TREX1
19MP:00107687.4CASP3, APOE, JAG1, MESP2, RBPJ, MTHFR
20MP:00053787.4NOTCH1, CASP3, APOE, JAG1, MESP2, RBPJ

Publications for Cadasil

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50PubMed
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Articles related to Cadasil:

(show top 50)    (show all 495)
idTitleAuthorsYear
1
Homozygosity and severity of phenotypic presentation in a CADASIL family. (24277202)
2014
2
A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in which lomerizine hydrochloride was suggested to prevent recurrent stroke. (24429644)
2014
3
Visual system involvement in CADASIL. (23635925)
2013
4
Abnormal sensorimotor plasticity in CADASIL correlates with neuropsychological impairment. (23308019)
2013
5
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. (22878905)
2013
6
CADASIL patient with extracellular calcium deposits. (24374958)
2013
7
Neuraxial anesthesia in CADASIL syndrome. (23461972)
2013
8
Peripheral artery disease as a manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and practical implications. (23630088)
2013
9
Effects of gender on the phenotype of CADASIL. (22033996)
2012
10
Transendocytosis is impaired in CADASIL-mutant NOTCH3. (22079830)
2012
11
Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant. (23597439)
2012
12
Impaired vasoreactivity in mildly disabled CADASIL patients. (22072702)
2012
13
p.Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL. (22082899)
2011
14
CADASIL: how to avoid the unavoidable? (22669987)
2011
15
Intelligence impairment, personality features and psychopathology disturbances in a family affected with CADASIL. (22059337)
2011
16
CADASIL presenting as status migrainosus and persisting aura without infarction. (18953486)
2009
17
Periodontal disease as an early clinical sign of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. (19859875)
2009
18
CADASIL disease, an inherited slowly progressive vascular dementia: case report with radiologic and electron microscopic findings. (19900654)
2009
19
High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (19576955)
2009
20
A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL. (19259619)
2009
21
Diagnostic criteria of vascular dementia in CADASIL. (18258841)
2008
22
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (18538791)
2008
23
Acute encephalopathy as the initial symptom of CADASIL. (17908094)
2007
24
Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation. (18386331)
2007
25
Non-convulsive status epilepticus causing focal neurological deficits in CADASIL. (17940180)
2007
26
Small artery dementia in Japan: radiological differences between CADASIL, leukoaraiosis and Binswanger's disease. (16391479)
2006
27
Multiple teeth extractions in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), treated with ticlopidine. (16360869)
2006
28
Heritability of MRI lesion volume in CADASIL: evidence for genetic modifiers. (17008614)
2006
29
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene. (16998728)
2006
30
CADASIL-causing mutations do not alter Notch3 receptor processing and activation. (16791082)
2006
31
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephaloapthy (CADASIL): a hereditary cerebrovascular disease, which can be diagnosed by skin biopsy electron microscopy. (15798438)
2005
32
Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. (16009764)
2005
33
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Greek family. (16193256)
2005
34
CADASIL: underdiagnosed in psychiatric patients? (15819734)
2005
35
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a case report with review of literature. (15069251)
2004
36
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (15876982)
2004
37
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. (15364702)
2004
38
The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. (15229130)
2004
39
Screening for CADASIL mutations. (12557863)
2003
40
Cerebral hemodynamics and white matter hyperintensities in CADASIL. (12771575)
2003
41
Diagnostic strategies in CADASIL. (12821764)
2003
42
Morphometric analysis of ultrastructural vascular changes in CADASIL: analysis of 50 skin biopsy specimens and pathogenic implications. (12172909)
2002
43
Arterial changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in relation to pathogenesis of diffuse myelin loss of cerebral white matter: examination of cerebral medullary arteries by reconstruction of serial sections of an autopsy case. (12411643)
2002
44
Reduced cerebrovascular CO(2) reactivity in CADASIL: A transcranial Doppler sonography study. (11136908)
2001
45
Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family. (11591842)
2001
46
Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking. (10926955)
2000
47
Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. (10969905)
2000
48
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis. (9808276)
1998
49
CADASIL and white matter syndromes. (9818925)
1998
50
Endothelial changes in muscle and skin biopsies in patients with CADASIL. (9549730)
1998

Genetic Variations for Cadasil

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cadasil:

62 (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

Expression for genes affiliated with Cadasil

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 51QIAGEN, 52R&D Systems
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Pathways related to Cadasil according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1TREX1, RPS27A
29.9NOTCH1, NOTCH4, NOTCH3
3
Hide members
9.9NOTCH1, NOTCH4, NOTCH3
49.9RBPJ, DLL1, NOTCH1
59.8NOTCH1, NOTCH4, NOTCH3, JAG1
6
Hide members
9.7JAG1, RBPJ, DLL1, NOTCH1
79.7NOTCH1, NOTCH4, NOTCH3, CASP3
89.7CASP3, NOTCH3, NOTCH4, NOTCH1
9
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9.6POFUT1, NOTCH3, NOTCH4, NOTCH1
10
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9.6JAG1, DLL1, NOTCH3, NOTCH4, NOTCH1
11
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9.4NRP1, DLL1, NOTCH3, NOTCH4, NOTCH1
129.4APOE, NRP1, NOTCH3, NOTCH4, NOTCH1
139.3RBPJ, DLL1, DLL3, NOTCH3, NOTCH4, NOTCH1
149.3APOE, JAG1, RBPJ, EGF, DLL1, NOTCH1
15
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9.2JAG1, POFUT1, DLL1, NOTCH3, NOTCH4, NOTCH1
169.2JAG1, RBPJ, DLL1, DLL3, NOTCH3, NOTCH4
179.2JAG1, RBPJ, DLL1, DLL3, NOTCH3, NOTCH4
18
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9.2JAG1, RBPJ, POFUT1, DLL1, NOTCH4, NOTCH1
19
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9.1RPS27A, JAG1, RBPJ, DLL1, NOTCH3, NOTCH4
20
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9.0CASP3, EGF, NRP1, CFLAR, NOTCH3, NOTCH4
218.8JAG1, RBPJ, POFUT1, DLL1, DLL3, NOTCH3
22
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8.7NOTCH1, JAG1, RBPJ, EGF, POFUT1, DLL1
23
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7.8RPS27A, CASP3, APOE, JAG1, RBPJ, EGF

Compounds for genes affiliated with Cadasil

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
See all sources

Compounds related to Cadasil according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.7ALOX5AP
2serine4410.7CFLAR
3pge24410.7ALOX5AP
4indomethacin44 59 28 1113.3RPS27A, ALOX5AP
5thioflavine s4410.3RPS27A, APOE
6vitamin k144 2411.2SERPINC1, APOE
7heparin44 28 11 2413.2NRP1, MTHFR
8n-(4-hydroxyphenyl)retinamide4410.2CFLAR, CASP3, RPS27A
9irinotecan44 49 1112.2CFLAR, MTHFR, EGF
10tamoxifen44 49 28 1113.1APOE, RPS27A
11bortezomib44 1111.1RPS27A, CASP3, CFLAR
12u01264410.0EGF, CASP3
13h2o24410.0RPS27A, EGF, CFLAR
14mg 13244 5911.0CFLAR, EGF, CASP3, RPS27A
15warfarin44 49 11 2413.0APOE, MTHFR, SERPINC1
16valine4410.0ILVBL, APOE, RPS27A
17geldanamycin44 49 59 1113.0CFLAR, EGF, RPS27A
185fluorouracil449.9CFLAR, MTHFR, EGF, CASP3
194-hydroxynonenal44 2410.9APOE, CASP3, RPS27A
20chloroquine44 2 49 28 1113.9SERPINC1, APOE, RPS27A
21doxorubicin44 49 1111.9RPS27A, CASP3, EGF, CFLAR, NOTCH1
22gemcitabine44 49 1111.8MTHFR, EGF, CASP3
23cisplatin44 49 59 1112.7CFLAR, MTHFR, EGF, CASP3, RPS27A
24aspirin44 49 28 2412.7RPS27A, APOE, MTHFR, SERPINC1, ALOX5AP
25n acetylcysteine449.7SERPINC1, APOE, CASP3, RPS27A
26cyclosporin a44 28 5911.6CFLAR, MTHFR, APOE, CASP3, RPS27A
27sele449.6MTHFR, APOE
28actinomycin d449.6RPS27A, CASP3, APOE, EGF, CFLAR, ALOX5AP
29rapamycin449.6RPS27A, CASP3, APOE, EGF, CFLAR, NOTCH1
30lactacystin449.6RPS27A, CASP3, APOE
31aspartate449.5RPS27A, APOE, MTHFR, NRP1, NOTCH1
32testosterone44 59 11 2412.5RPS27A, APOE, EGF, MTHFR, CFLAR, SERPINC1
33retinoic acid44 2410.4RPS27A, CASP3, EGF, MTHFR, CFLAR, NOTCH1
34cysteine449.1RPS27A, CASP3, APOE, EGF, MTHFR, NRP1
35vegf448.8SERPINC1, RPS27A, CASP3, APOE, EGF, NRP1

GO Terms for genes affiliated with Cadasil

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Cadasil according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MAML1-RBP-Jkappa- ICN1 complexGO:00219310.1RBPJ, NOTCH1
2nucleoplasmGO:0056549.2CASP3, RBPJ, NOTCH3, NOTCH4, NOTCH1, RPS27A
3extracellular regionGO:0055768.7SERPINC1, APOE, JAG1, EGF, NRP1, DLL1
4cytosolGO:0058298.3RPS27A, CASP3, MTHFR, NRP1, CFLAR, NOTCH3
5plasma membraneGO:0058868.0RPS27A, CASP3, APOE, JAG1, EGF, NRP1

Biological processes related to Cadasil according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1distal tubule developmentGO:07201710.5JAG1, NOTCH1
2loop of Henle developmentGO:07207010.5DLL1, JAG1
3endocardium morphogenesisGO:00316010.4NOTCH1, RBPJ
4negative regulation of stem cell differentiationGO:200073710.4NOTCH1, JAG1
5auditory receptor cell fate commitmentGO:00991210.4RBPJ, NOTCH1
6regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiationGO:00325610.4RBPJ, NOTCH1
7cardiac septum morphogenesisGO:06041110.4NOTCH1, JAG1
8interleukin-4 secretionGO:07260210.4RBPJ, NOTCH1
9pulmonary valve morphogenesisGO:00318410.4JAG1, NOTCH1
10neuronal stem cell maintenanceGO:09715010.3NOTCH1, DLL1, JAG1
11Notch signaling involved in heart developmentGO:06131410.3JAG1, RBPJ, NOTCH1
12compartment pattern specificationGO:00738610.3DLL1, DLL3, NOTCH1
13epithelial to mesenchymal transition involved in endocardial cushion formationGO:00319810.3NOTCH1, RBPJ
14left/right axis specificationGO:07098610.3NOTCH1, DLL1
15cell fate determinationGO:00170910.3NOTCH4, DLL1, JAG1
16positive regulation of transcription of Notch receptor targetGO:00722110.3RBPJ, NOTCH4, NOTCH1
17ventricular trabecula myocardium morphogenesisGO:00322210.2RBPJ, NOTCH1
18response to muramyl dipeptideGO:03249510.2NOTCH1, JAG1
19cardiac left ventricle morphogenesisGO:00321410.2RBPJ, NOTCH1
20hemopoiesisGO:03009710.2JAG1, DLL1, NOTCH4
21negative regulation of ossificationGO:03027910.1NOTCH1, RBPJ
22somitogenesisGO:00175610.1DLL3, POFUT1, MESP2
23regulation of type I interferon productionGO:03247910.1TREX1, RPS27A
24keratinocyte differentiationGO:03021610.0CASP3, JAG1, RBPJ, NOTCH1
25negative regulation of neurogenesisGO:05076810.0DLL3, NOTCH1
26transcription initiation from RNA polymerase II promoterGO:0063679.9RPS27A, RBPJ, NOTCH3, NOTCH4, NOTCH1
27angiogenesisGO:0015259.8POFUT1, EGF, RBPJ, JAG1
28inflammatory response to antigenic stimulusGO:0024379.8RBPJ, NOTCH1
29Notch receptor processingGO:0072209.7RPS27A, JAG1, DLL1, NOTCH3, NOTCH4, NOTCH1
30heart developmentGO:0075079.7CASP3, NRP1, POFUT1, NOTCH1
31positive regulation of transcription from RNA polymerase II promoterGO:0459449.6RPS27A, JAG1, MESP2, RBPJ, DLL1, NOTCH1
32Notch signaling pathwayGO:0072198.8NOTCH1, RPS27A, JAG1, MESP2, RBPJ, POFUT1

Molecular functions related to Cadasil according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:0051129.6DLL3, DLL1, JAG1
2calcium ion bindingGO:0055099.4NOTCH1, NOTCH4, NOTCH3, DLL1, EGF, JAG1

Products for genes affiliated with Cadasil

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cadasil

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet