MCID: CRB047
MIFTS: 27

Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy malady

Genetic diseases (common) category

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

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

Name: Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 45 10
 
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 125310

Summaries for Cerebral Arteriopathy with Subcortical Infarcts and...

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OMIM:45 Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive... (125310) more...

MalaCards based summary: Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, also known as cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, is related to cadasil and carasil syndrome, and has symptoms including behavioral abnormality, visual loss and peripheral neuropathy. An important gene associated with Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is NOTCH3 (notch 3). Affiliated tissues include brain and skin, and related mouse phenotypes are cardiovascular system and skeleton.

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

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

idRelated DiseaseScoreTop Affiliating Genes
1cadasil10.8
2carasil syndrome10.5
3cerebritis10.5

Symptoms for Cerebral Arteriopathy with Subcortical Infarcts and...

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Symptoms by clinical synopsis from OMIM:

125310

Clinical features from OMIM:

125310

HPO human phenotypes related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:

(show all 19)
id Description Frequency HPO Source Accession
1 behavioral abnormality 9% HP:0000708
2 visual loss rare (5%) HP:0000572
3 peripheral neuropathy rare (5%) HP:0009830
4 autosomal dominant inheritance HP:0000006
5 urinary incontinence HP:0000020
6 abnormal electroretinogram HP:0000512
7 abnormality of vision evoked potentials HP:0000649
8 abnormality of the skin HP:0000951
9 seizures HP:0001250
10 gait disturbance HP:0001288
11 stroke HP:0001297
12 migraine HP:0002076
13 leukoencephalopathy HP:0002352
14 varicose veins HP:0002619
15 adult onset HP:0003581
16 pseudobulbar paralysis HP:0007024
17 subcortical dementia HP:0007123
18 recurrent subcortical infarcts HP:0007236
19 nonarteritic anterior ischemic optic neuropathy HP:0007634

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

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Drug clinical trials:

Search ClinicalTrials for Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

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

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

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

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

31
Brain, Skin

Animal Models for Cerebral Arteriopathy with Subcortical Infarcts and... or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1NOTCH3, HTRA1
2MP:00053908.8NOTCH3, HTRA1

Publications for Cerebral Arteriopathy with Subcortical Infarcts and...

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Articles related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:

idTitleAuthorsYear
1
Dominant autosomal cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A review]. (12396971)
2002

Variations for Cerebral Arteriopathy with Subcortical Infarcts and...

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

62 (show all 109)
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
109NOTCH3p.Tyr710CysVAR_072080

Clinvar genetic disease variations for Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:

6 (show all 11)
id Gene Variation 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 Cerebral Arteriopathy with Subcortical Infarcts and...

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Search GEO for disease gene expression data for Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Pathways for genes affiliated with Cerebral Arteriopathy with Subcortical Infarcts and...

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Compounds for genes affiliated with Cerebral Arteriopathy with Subcortical Infarcts and...

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

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Cellular components related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058299.1NOTCH3, HTRA1

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3CDC
13ExPASy
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24HMDB
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29KEGG
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