CASIL
MCID: CDS001
MIFTS: 80

Cadasil (CASIL) malady

Neuronal, Eye, Cardiovascular, Genetic categories

Summaries for Cadasil

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 3CDC, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NINDS:44 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 semantic dementia and vascular dementia, and has symptoms including cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy, eeg anomalies and motor deficit/trouble. 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 skin, spinal cord and brain, 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:43 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:34 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

CDC:3 A stroke occurs when the blood supply to the brain is blocked or when a blood vessel in the brain ruptures, causing brain tissue to die.

Wikipedia:64 CADASIL (\"Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy\")... more...

Description from OMIM:47 125310,601367

GeneReviews summary for cadasil

Aliases & Classifications for Cadasil

Sources:
61UMLS, 8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 49Orphanet, 64Wikipedia, 20GeneTests, 47OMIM, 34MedlinePlus, 22GTR, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal, Eye, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
cadasil:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

cadasil 8 19 43 21 44 10 45 49
stroke 64 44 47 45 34
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 43 22 21 49
familial vascular leukoencephalopathy 64 43 21 61
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 43 21 47
cadasil syndrome 64 20 61
multi-infarct dementia 64 61
dementia 64 61
cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy 64
cerebral autosomal dominant arteriopathy with subcortical infarctsleukoencephalopathy 19
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 64
dementia, hereditary multi-infarct type 43
hereditary dementia, multi-infarct type 21
hereditary multi-infarct dementia 49
cerebrovascular accident 61
lacunar dementias 61
lacunar dementia 64
casil 43


External Ids:

Disease Ontology8 DOID:13945
NCIt40 C84606
MeSH35 D046589
OMIM47 125310
MESH via Orphanet36 D046589
ICD10 via Orphanet26 F01.1, I67.8
SNOMED-CT via Orphanet58 390936003

Related Diseases for Cadasil

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 984)
idRelated DiseaseScoreTop Affiliating Genes
1semantic dementia31.5RPS27A
2vascular dementia30.6APOE, NOTCH3, NOTCH4
3protein s deficiency30.6MTHFR, SERPINC1
4thrombophilia30.6MTHFR, SERPINC1
5stroke, ischemic30.6SERPINC1, NOTCH3, MTHFR
6pick's disease30.5APOE, RPS27A
7transient cerebral ischemia30.5MTHFR, NOTCH3
8down syndrome30.5MTHFR, APOE
9arthritis30.4CFLAR
10atherosclerosis30.3ALOX5AP, SERPINC1, NRP1, MTHFR, APOE
11vascular disease30.2APOE, MTHFR, NOTCH3, SERPINC1
12eclampsia30.1SERPINC1, MTHFR
13thyroid cancer30.1CFLAR, NRP1, EGF
14stomach cancer30.0CASP3, JAG1, EGF, MTHFR, CFLAR
15kaposi's sarcoma29.9RBPJ
16adenocarcinoma29.9CASP3, EGF, NRP1, CFLAR, NOTCH1, ALOX5AP
17thrombocytopenia29.9SERPINC1
18progressive supranuclear palsy29.8APOE
19binswanger's disease29.8NOTCH3, APOE
20amyotrophic lateral sclerosis29.8RPS27A, CASP3
21alzheimer's disease29.8RPS27A, CASP3, APOE, NRP1, CFLAR, NOTCH3
22arteriosclerosis29.8MTHFR
23pseudobulbar palsy29.8NOTCH3, NOTCH4
24acute leukemia29.7NOTCH1, MTHFR
25adenoma29.7NRP1, MTHFR
26insulin resistance29.6RPS27A
27astrocytoma29.6NRP1, EGF
28hypercholesterolemia29.6APOE
29homocystinuria29.6SERPINC1, MTHFR
30osteoarthritis29.6NRP1, CFLAR, NOTCH1, ALOX5AP
31primary hyperoxaluria29.5SERPINC1, APOE, CASP3
32colorectal cancer29.5RPS27A, CASP3, EGF, MTHFR, NRP1, CFLAR
33aids dementia complex10.9
34lewy body dementia10.9
35parkinson's disease10.7
36primary progressive aphasia10.5
37dementia familial british10.5
38cerebral atrophy10.5
39corticobasal degeneration10.5
40atrial septal aneurysm10.5
41autosomal dominant disease10.5
42sneddon syndrome10.5
43amyotrophic lateral sclerosis-parkinsonism/dementia complex10.4
44normal pressure hydrocephalus10.4
45dementia pugilistica10.4
46carotid artery dissection10.4
47inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.4
48ataxia10.4
49hyperlipidemia type 310.4
50patent foramen ovale10.4

Graphical network of the top 20 diseases related to Cadasil:



Diseases related to cadasil

Clinical Features for Cadasil

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

125310,601367

Clinical synopsis from OMIM:

125310

Symptoms:

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

Drugs & Therapeutics for Cadasil

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Genetic Tests for Cadasil

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Cadasil:

33
Skin, Spinal cord, Brain, Whole blood, Cortex, Heart, Smooth muscle, Skeletal muscle, T cells, Endothelial, Temporal lobe, Thalamus, Caudate nucleus

Animal Models for Cadasil or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Cadasil:

37 (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

Sources:
51PubMed
See all sources

Articles related to Cadasil:

(show top 50)    (show all 497)
idTitleAuthorsYear
1
Spontaneous intracerebral hemorrhage in CADASIL. (24344756)
2013
2
Facial affect recognition in CADASIL patients. (23127883)
2013
3
Letter by Pescini et al regarding article, "Peripheral artery disease as a manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and practical implications". (24146127)
2013
4
Brain microvascular accumulation and distribution of the NOTCH3 ectodomain and granular osmiophilic material in CADASIL. (23584202)
2013
5
Isolated diplopia as a form of presentation of CADASIL: presentation of a case. (22749569)
2012
6
Von Willebrand Factor permeates small vessels in CADASIL and inhibits smooth muscle gene expression. (22639698)
2012
7
Cortical folding influences migraine aura symptoms in CADASIL. (22072703)
2012
8
Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up. (22936449)
2012
9
Verbal memory impairment in subcortical ischemic vascular disease: a descriptive analysis in CADASIL. (20149485)
2011
10
Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis. (21628316)
2011
11
Major depression and bipolar disorders in CADASIL: a study using the DSM-IV semi-structured interview. (21428968)
2011
12
CADASIL can mimic multiple sclerosis. (20666172)
2010
13
CSF Biomarkers Profile in CADASIL-A Model of Pure Vascular Dementia: Usefulness in Differential Diagnosis in the Dementia Disorder. (20827312)
2010
14
Non-convulsive status epilepticus causing focal neurological deficits in CADASIL. (21686761)
2009
15
Evaluation of brain apoptosis in a CADASIL postmortem case. (19788051)
2009
16
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. (19006080)
2009
17
Cognition in CADASIL. (19064778)
2009
18
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). (19736850)
2009
19
Three-dimensional MRI analysis of individual volume of Lacunes in CADASIL. (18948610)
2009
20
Cortical changes in cerebral small vessel diseases: a 3D MRI study of cortical morphology in CADASIL. (18577545)
2008
21
Measurement of meaningful treatment effects in CADASIL. (18635015)
2008
22
Small cerebral vessel disease in familial amyloid and non-amyloid angiopathies: FAD-PS-1 (P117L) mutation and CADASIL. Immunohistochemical and ultrastructural studies. (18176893)
2007
23
Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (17729386)
2007
24
Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. (17235124)
2007
25
Neuropsychiatric manifestations in CADASIL. (17726918)
2007
26
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation. (17690848)
2007
27
CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred. (16538621)
2006
28
Ultrastructural picture of blood vessels in muscle and skin biopsy in CADASIL. (17183453)
2006
29
CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations. (16111703)
2005
30
Gene symbol: NOTCH3. Disease: CADASIL. (16521242)
2005
31
Neurologic symptoms are common during gestation and puerperium in CADASIL. (15851739)
2005
32
CADASIL or CADVaSIL? (15068168)
2004
33
Early diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): the role of MRI. (15776792)
2004
34
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. (15210536)
2004
35
Detection of the founder effect in Finnish CADASIL families. (15378071)
2004
36
Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL. (15221337)
2004
37
Silent infarcts demonstrated by diffusion-weighted MRI in CADASIL. (12646764)
2003
38
Progressive supranuclear palsy phenotype secondary to CADASIL. (12853237)
2003
39
Diagnostic strategies in CADASIL. (12395806)
2002
40
Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. (11161160)
2001
41
Nocturnal blood pressure dip in CADASIL. (11718744)
2001
42
Diffusion tensor imaging study of subcortical gray matter in cadasil. (11546896)
2001
43
Two cases of Japanese CADASIL with corpus callosum lesion. (11846209)
2001
44
CADASIL: Notch signaling defect or protein accumulation problem? (10712425)
2000
45
Clinical, radiological, histopathological and genetic findings in a Danish "CADASIL" family]. (10766655)
2000
46
Vasculopathic changes of CADASIL can be focal in skin biopsies. (10503743)
1999
47
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. (10371548)
1999
48
The natural history of CADASIL: a pooled analysis of previously published cases. (10356105)
1999
49
Patterns of MRI lesions in CADASIL. (9710018)
1998
50
Summary of the proceedings of the First International Workshop on CADASIL. Paris, May 19-21, 1993. (7907448)
1994

Genetic Variations for Cadasil

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Cadasil:

63 (show all 108)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 52QIAGEN, 53R&D Systems
See all sources

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
Hide members
9.6POFUT1, NOTCH3, NOTCH4, NOTCH1
10
Hide members
9.6JAG1, DLL1, NOTCH3, NOTCH4, NOTCH1
11
Hide members
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
Hide members
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

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Cadasil according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.7ALOX5AP
2serine4510.7CFLAR
3pge24510.7ALOX5AP
4indomethacin45 60 29 1113.3RPS27A, ALOX5AP
5thioflavine s4510.3RPS27A, APOE
6vitamin k145 2411.2SERPINC1, APOE
7heparin45 29 11 2413.2NRP1, MTHFR
8n-(4-hydroxyphenyl)retinamide4510.2CFLAR, CASP3, RPS27A
9irinotecan45 50 1112.2CFLAR, MTHFR, EGF
10tamoxifen45 50 29 1113.1APOE, RPS27A
11bortezomib45 1111.1RPS27A, CASP3, CFLAR
12u01264510.0EGF, CASP3
13h2o24510.0RPS27A, EGF, CFLAR
14mg 13245 6011.0CFLAR, EGF, CASP3, RPS27A
15warfarin45 50 11 2413.0APOE, MTHFR, SERPINC1
16valine4510.0ILVBL, APOE, RPS27A
17geldanamycin45 50 60 1113.0CFLAR, EGF, RPS27A
185fluorouracil459.9CFLAR, MTHFR, EGF, CASP3
194-hydroxynonenal45 2410.9APOE, CASP3, RPS27A
20chloroquine45 2 50 29 1113.9SERPINC1, APOE, RPS27A
21doxorubicin45 50 1111.9RPS27A, CASP3, EGF, CFLAR, NOTCH1
22gemcitabine45 50 1111.8MTHFR, EGF, CASP3
23cisplatin45 50 60 1112.7CFLAR, MTHFR, EGF, CASP3, RPS27A
24aspirin45 50 29 2412.7RPS27A, APOE, MTHFR, SERPINC1, ALOX5AP
25n acetylcysteine459.7SERPINC1, APOE, CASP3, RPS27A
26cyclosporin a45 29 6011.6CFLAR, MTHFR, APOE, CASP3, RPS27A
27sele459.6MTHFR, APOE
28actinomycin d459.6RPS27A, CASP3, APOE, EGF, CFLAR, ALOX5AP
29rapamycin459.6RPS27A, CASP3, APOE, EGF, CFLAR, NOTCH1
30lactacystin459.6RPS27A, CASP3, APOE
31aspartate459.5RPS27A, APOE, MTHFR, NRP1, NOTCH1
32testosterone45 60 11 2412.5RPS27A, APOE, EGF, MTHFR, CFLAR, SERPINC1
33retinoic acid45 2410.4RPS27A, CASP3, EGF, MTHFR, CFLAR, NOTCH1
34cysteine459.1RPS27A, CASP3, APOE, EGF, MTHFR, NRP1
35vegf458.8SERPINC1, RPS27A, CASP3, APOE, EGF, NRP1

GO Terms for genes affiliated with Cadasil

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cadasil

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet