MCID: CRB047
MIFTS: 39

Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases, Mental diseases

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

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Sources:
50OMIM, 12diseasecard, 52Orphanet, 68UniProtKB/Swiss-Prot, 66UMLS, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 50 12
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Autosomal Dominant 68 25
Cadasil 52 68
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 1 68
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy 50
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 52
 
Dementia Hereditary Multi-Infarct Type 68
Hereditary Multi-Infarct Dementia 52
Cadasil Syndrome 66
Cadasil1 68
Casil 68

Characteristics:

Orphanet epidemiological data:

52
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

HPO:

62
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 125310
Orphanet52 ORPHA136
ICD10 via Orphanet29 F01.1
MESH via Orphanet38 D046589
UMLS via Orphanet67 C0751587
MeSH37 D046589

Summaries for Cerebral Arteriopathy with Subcortical Infarcts and...

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Genetics Home Reference:24 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).

MalaCards based summary: Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, also known as cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant, is related to cadasil and cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2, and has symptoms including behavioral abnormality, migraine and neurological speech impairment. An important gene associated with Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is NOTCH3 (Notch 3). Affiliated tissues include brain, smooth muscle and skin.

OMIM:50 Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive... (125310) more...

UniProtKB/Swiss-Prot:68 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.

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

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Diseases in the Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy family:

Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 2

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

idRelated DiseaseScoreTop Affiliating Genes
1cadasil12.0
2cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 211.5
3carasil syndrome10.4
4cerebritis10.2

Symptoms for Cerebral Arteriopathy with Subcortical Infarcts and...

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Symptoms by clinical synopsis from OMIM:

125310

Clinical features from OMIM:

125310

Symptoms:

 52 (show all 37)
  • hearing impairment
  • sensorineural hearing impairment
  • visual impairment
  • depression
  • dementia
  • sensory neuropathy
  • hypertension
  • retinal arteriolar tortuosity
  • seizures
  • spasticity
  • coma
  • hypertonia
  • gait disturbance
  • confusion
  • subcutaneous hemorrhage
  • hypoglycemia
  • fever
  • abnormality of extrapyramidal motor function
  • migraine
  • cerebral cortical atrophy
  • hemiplegia
  • headache
  • eeg abnormality
  • memory impairment
  • developmental regression
  • aphasia
  • varicose veins
  • atherosclerosis
  • cerebral ischemia
  • elevated serum creatine phosphokinase
  • recurrent pneumonia
  • cranial nerve paralysis
  • impaired pain sensation
  • peripheral neuropathy
  • abnormality of nervous system morphology
  • subdural hemorrhage
  • amaurosis fugax

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

(show all 45)
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 visual impairment typical (50%) HP:0000505
11 hypertonia typical (50%) HP:0001276
12 gait disturbance typical (50%) HP:0001288
13 cerebral cortical atrophy typical (50%) HP:0002120
14 eeg abnormality typical (50%) HP:0002353
15 memory impairment typical (50%) HP:0002354
16 cerebral ischemia typical (50%) HP:0002637
17 cranial nerve paralysis typical (50%) HP:0006824
18 behavioral abnormality 9% HP:0000708
19 hearing impairment occasional (7.5%) HP:0000365
20 hypertension occasional (7.5%) HP:0000822
21 seizures occasional (7.5%) HP:0001250
22 subcutaneous hemorrhage occasional (7.5%) HP:0001933
23 hypoglycemia occasional (7.5%) HP:0001943
24 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
25 intracranial hemorrhage occasional (7.5%) HP:0002170
26 recurrent respiratory infections occasional (7.5%) HP:0002205
27 atherosclerosis occasional (7.5%) HP:0002621
28 venous insufficiency occasional (7.5%) HP:0005293
29 peripheral neuropathy occasional (7.5%) HP:0009830
30 visual loss rare (5%) HP:0000572
31 peripheral neuropathy rare (5%) HP:0009830
32 urinary incontinence HP:0000020
33 abnormal electroretinogram HP:0000512
34 abnormality of visual evoked potentials HP:0000649
35 abnormality of the skin HP:0000951
36 seizures HP:0001250
37 gait disturbance HP:0001288
38 stroke HP:0001297
39 migraine HP:0002076
40 leukoencephalopathy HP:0002352
41 varicose veins HP:0002619
42 pseudobulbar paralysis HP:0007024
43 subcortical dementia HP:0007123
44 recurrent subcortical infarcts HP:0007236
45 nonarteritic anterior ischemic optic neuropathy HP:0007634

UMLS symptoms related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:


cardiovascular symptoms, vascular pain

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

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Drugs for Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BuprenorphinePhase 438852485-79-740400, 644073
Synonyms:
(-)-Buprenorphine
(-)-buprenorphine
(5alpha,6beta,14beta,18R)-17-(cyclopropylmethyl)-18-[(1S)-1-hydroxy-1,2,2-trimethylpropyl]-6-(methyloxy)-18,19-dihydro-4,5-epoxy-6,14-ethenomorphinan-3-ol
(5alpha,6beta,14beta,18R)-17-(cyclopropylmethyl)-18-[(2S)-2-hydroxy-3,3-dimethylbutan-2-yl]-6-methoxy-18,19-dihydro-4,5-epoxy-6,14-ethenomorphinan-3-ol
(−)-buprenorphine
17-Cyclopropylmethyl-4,5alpha-epoxy-7alpha-((S)-1-hydroxy-1,2,2-trimethylpropyl)-6-methoxy-6,14-endo-ethanomorphinan-3-ol
17-Cyclopropylmethyl-4,5alpha-epoxy-7alpha-((S)-1-hydroxy-1,2,2-trimethylpropyl-6-methoxy-6,14-endo-ethanomorphinan-3-ol
17-cyclopropylmethyl-4,5alpha-epoxy-7alpha-((S)-1-hydroxy-1,2,2-trimethylpropyl)-6-methoxy-6,14-endo-ethanomorphinan-3-ol
2-(N-Cyclopropylmethyl-4,5alpha-epoxy-3-hydroxy-6-methoxy-6,14-endo-ethanomorphinan-6alpha-yl)-3,3-dimethyl-2-butanol
2-(N-Cyclopropylmethyl-4,5alpha-epoxy-3-hydroxy-6-methoxy-6,14-endo-ethanomorphinan-7alpha-yl)-3,3-dimethyl-2-butanol
2-(N-cyclopropylmethyl-4,5alpha-epoxy-3-hydroxy-6-methoxy-6,14-endo-ethanomorphinan-6alpha-yl)-3,3-dimethyl-2-butanol
2-[3-Cyclopropylmethyl-11-hydroxy-15-methoxy-(14R)-13-oxa-3-azahexacyclo[13.2.2.12,8.01,6.06,14.07,12]icosa-7,9,11-trien-16-yl]-3,3-dimethyl-2-butanol
21-(Cyclopropyl-7alpha-((S)-1-hydroxy-1,2,2-trimethylpropyl-6,14-endo-ethano-6,7,8,14-tetrahydrooripavine
21-Cyclopropyl-7alpha-[(S)-1-hydroxy-1,2,2-trimethylpropyl]-6,14-endo-ethano-6,7,8,14-tetrahydrooripavine
21-cyclopropyl-7alpha-(2-hydroxy-3,3-dimethyl-2-butyl)-6,14-endo-ethano-6,7,8,14-tetrahydrooripavine
21-cyclopropyl-7alpha-[(S)-1-hydroxy-1,2,2-trimethylpropyl]-6,14-endo-ethano-6,7,8,14-tetrahydrooripavine
52485-79-7
53152-21-9 (hydrochloride)
6,14-Ethenomorphinan-7-methanol, 17-(cyclopropylmethyl)-alpha-(1,1-dimethylethyl)-4,5-epoxy-18,19-dihydro-3-hydroxy-6-methoxy-alpha-methyl-,
6,14-Ethenomorphinan-7-methanol, 17-(cyclopropylmethyl)-alpha-(1,1-dimethylethyl)-4,5-epoxy-18,19-dihydro-3-hydroxy-6-methoxy-alpha-methyl-, (alphaS,5alpha,7alpha)- (9CI)
6029-M
AC1L23NL
AC1L9B1M
AC1LD8IH
Buprel
Buprenex
Buprenophine
Buprenorfina
Buprenorfina [INN-Spanish]
 
Buprenorphine (JAN/INN)
Buprenorphine Hcl
Buprenorphine [INN:BAN]
Buprenorphinum
Buprenorphinum [INN-Latin]
C08007
C29H41NO4
CHEBI:3216
CHEMBL1201894
CHEMBL47085
CID40400
CID441363
CID5311033
CID6321408
CID644073
D07132
DB00921
DEA No. 9064
EINECS 257-950-6
LS-67682
MolPort-004-285-844
PDSP2_000111
Probuphine
RX 6029M
RX-6029-M
Subutex
Temgesic
Temgesic (TN)
UNII-40D3SCR4GZ
[5alpha,7alpha(S)]-17-(Cyclopropylmethyl)-alpha-(1,1-dimethylethyl)-4,5-epoxy-18,19-dihydro-3-hydroxy-6-methoxy-alpha-methyl-6,14-ethenomorphinan-7-methanol
buprenorphine
2
AcetaminophenPhase 4930103-90-21983
Synonyms:
4'-Hydroxyacetanilide
4'-hydroxyacetanilide
4-(Acetylamino)phenol
4-Acetamidophenol
4-Acetaminophenol
4-Hydroxyacetanilide
4-Hydroxyanilid kyseliny octove
4-acetamidophenol
A-Per
A.F. Anacin
AC1Q1KYJ
AC1Q1KYK
APAP
Abenol
Abensanil
Abrol
Abrolet
Acamol
Accu-Tap
Acenol
Acephen
Acertol
Aceta Elixir
Aceta Tablets
Acetaco
Acetagesic
Acetalgin
Acetaminofen
Acetaminophen
Acetaminophen Uniserts
Acetaminophene
Acetamol
Acetavance
Acetofen
Actamin
Actamin Extra
Actamin Super
Actifed Plus
Actimol
Actimol Chewable Tablets
Actimol Children'S Suspension
Actimol Infants' Suspension
Actimol Junior Strength Caplets
Actron
Afebrin
Afebryl
Aferadol
Algesidal
Algina
Algomol
Algotropyl
Allay
Alpiny
Alpinyl
Alvedon
Amadil
Aminofen
Aminofen Max
Anacin
Anacin 3
Anacin-3
Anacin-3 Extra Strength
Anadin dla dzieci
Anaflon
Analter
Anapap
Andox
Anelix
Anexsia
Anexsia 10/660
Anexsia 5/325
Anexsia 7.5/325
Anexsia 7.5/650
Anhiba
Anoquan
Anti-Algos
Antidol
Anuphen
Apacet
Apacet Capsules
Apacet Elixir
Apacet Extra Strength Caplets
Apacet Extra Strength Tablets
Apacet Regular Strength Tablets
Apadon
Apamid
Apamide
Apitrelal
Apo-Acetaminophen
Arfen
Arthralgen
Asetam
Asomal
Aspac
Aspirin Free Anacin Maximum Strength Caplets
Aspirin Free Anacin Maximum Strength Gel Caplets
Aspirin Free Anacin Maximum Strength Tablets
Aspirin-Free Anacin
Aspirin-Free Excedrin Caplets
Asplin
Atasol
Atasol Caplets
Atasol Drops
Atasol Forte Caplets
Atasol Forte Tablets
Atasol Oral Solution
Atasol Tablets
Atralidon
Babikan
Bacetamol
Bancap
Bancap Hc
Banesin
Bayer Select
Bayer Select Allergy-Sinus
Bayer Select Head Cold
Bayer Select Headache Pain
Bayer Select Maximum Strength Headache Pain Relief Formula
Bayer Select Menstrual Multi-Symptom
Bayer Select Sinus Pain Relief
Ben-u-ron
Benmyo
Bickie-mol
Biocetamol
Bucet
Butalbital
Butapap
CCRIS 3
CHEBI:46195
Cadafen
Calapol
Calmanticold
Calonal
Calpol
Capital
Capital with Codeine
Captin
Causalon
Cefalex
Cetadol
Children'S Acetaminophen Elixir Drops
Children'S Acetaminophen Oral Solution
Children'S Tylenol Chewable
Claradol Codeine
Clixodyne
Co-Gesic
Cod-Acamol Forte
Codabrol
Codalgin
Codapane
Codicet
Codisal
Codisal Forte
Codoliprane
Codral Pain Relief
Cofamol
Conacetol
Contac Cough & Sore Throat Formula
Contra-Schmerz P
Coricidin
Coricidin D
Coricidin Sinus
Cosutone
Croix Blanche
Cuponol
Curadon
Curpol
Custodial
D oliprane
Dafalgan
Dapa
Dapa X-S
Darocet
Darvocet
Darvocet-N 50
Datril
Datril Extra-Strength
Daygrip
Demilets
Deminofen
Democyl
Demogripal
Desfebre
Dhamol
Dhc Plus
Dial-a-gesic
Dial-alpha-gesic
Dimindol
Dirox
Disprol
Dol-Stop
Dolcor
Dolefin
Dolegrippin
Dolene AP-65
Dolene Ap-65
Dolgesic
Doliprane
Dolko
Dolofugin
Doloreduct
Dolorfug
Dolorol Forte
Dolorstop
Dolotec
Dolprone
Dorocoff
Dresan
Dristan Cold No Drowsiness
Dristancito
Drixoral Plus
Duaneo
Dularin
Duorol
Duracetamol
Duradyne Dhc
Durapan
Dymadon
Dymadon Co
Dymadon Forte
Dypap
Ecosetol
Elixodyne
Empracet
Endecon
Enelfa
Eneril
Esgic
Esgic-Plus
Eu-Med
Excedrin
Excedrin Caplets
Excedrin Extra Strength Caplets
Excipain
Exdol
Exdol Strong
Fanalgic
Farmadol
Febranine
Febrectal
Febrectol
Febrex
Febricet
Febridol
Febrilix
Febrin
Febrinol
Febro-Gesic
Febrolin
Femcet
Fendon
Fensum
Fepanil
Fever All
Feverall
Feverall Junior Strength
Feverall Sprinkle Caps Junior Strength
Fevor
Finimal
Finiweh
Fioricet
Fluparmol
Fortalidon P
Freka-cetamol
Gattaphen T
Gelocatil
Geluprane
Genapap
Genapap Children'S Elixir
Genapap Children'S Tablets
Genapap Extra Strength Caplets
Genapap Extra Strength Tablets
Genapap Regular Strength Tablets
Genebs
Genebs Extra Strength Caplets
Genebs Regular Strength Tablets
Genebs X-Tra
Geralgine-P
Gripin Bebe
Grippostad
Gynospasmine
Hedex
Helon N
Homoolan
Hy-Phen
Hycomine Compound
Hydrocet
Ildamol
Inalgex
Infadrops
Infants' Feverall
Influbene N
Injectapap
Intensin
Janupap
Jin Gang
Junior Disprol
KBio1_000660
Kataprin
Kinder Finimal
Korum
Kratofin simplex
L024125
Labamol
Lekadol
Lemgrip
Lemsip
Lestemp
Liqiprine
Liquagesic
Liquigesic Co
Liquiprin
Liquiprin Children'S Elixir
Liquiprin Infants" Drops
Lonarid
Lonarid Mono
Lorcet-Hd
Lortab
Lupocet
Lyteca
Lyteca Syrup
Magnidol
Malex N
Malgis
Malidens
Maxadol
Medigesic Plus
Medinol Paediatric
Medocodene
Melabon Infantil
Mexalen
Midol Maximum Strength
Midol PM Night Time Formula
Midol Regular Strength
Midol Teen Formula
Migraleve Yellow
Minafen
Minoset
Miralgin
 
Momentum
Mono Praecimed
Multin
N-(4-Hydroxyphenyl)acetamide
N-Acetyl-4-aminophenol
N-Acetyl-p-aminophenol
N-acetyl-p-aminophenol
NAPA
NCX 701
NEBS
NSC3991
Naldegesic
Napafen
Napap
Naprinol
Nealgyl
Nebs
Neo-Fepramol
NeoCitran
Neodol
Neodolito
Neopap
Neotrend
Neuridon
New Cortal for Children
NilnOcen
Nina
No-Febril
Nobedon
Nodolex
Noral
Norcet
Norco
O-Acetaminophenol
Ofirmev
Oltyl
Oralgan
Oraphen-PD
Ortensan
Oxycet
Oxycocet
Oxycodone 2.5/Apap 500
Oxycodone 5/Apap 500
PCM Paracetamol Lichtenstein
Paceco
Pacemo
Pacemol
Pacet
Pacimol
Paedialgon
Paedol
Painex
Paldesic
Pamol
Panacete
Panadeine
Panadeine Co
Panadiene
Panado-Co
Panado-Co Caplets
Panadol
Panadol Extra Strength
Panadol Junior Strength Caplets
Panadol Maximum Strength Caplets
Panadol Maximum Strength Tablets
Panale ve
Panaleve
Panamax
Panasorb
Panasorbe
Panets
Panex
Panodil
Panofen
Pantalgin
Papa-Deine
Papa-Deine #3
Papa-Deine #4
Para-Suppo
Para-Tabs
Paracemol
Paracenol
Paracet
Paracetamol
Paracetamol AL
Paracetamol Antipanin P
Paracetamol BC
Paracetamol Basics
Paracetamol DC
Paracetamol Dr. Schmidgall
Paracetamol Fecofar
Paracetamol Genericon
Paracetamol Hanseler
Paracetamol Harkley
Paracetamol Heumann
Paracetamol Hexal
Paracetamol Italfarmaco
Paracetamol Nycomed
Paracetamol PB
Paracetamol Raffo
Paracetamol Ratiopharm
Paracetamol Rosch
Paracetamol Saar
Paracetamol SmithKline Beecham
Paracetamol Stada
Paracetamol Winthrop
Paracetamol von ct
Paracetamole
Paracetamolo
Paracetamolum
Paracetanol
Paracetol
Paracin
Paracod
Paracodol
Parador
Paradrops
Parakapton
Parake
Paralen
Paralief
Paralink
Paralyoc
Paramol
Paramolan
Paranox
Parapan
Parasedol
Parasin
Paraspen
Parcetol
Parelan
Parmol
Parogal
Paroma
Pasolind
Pasolind N
Pe-Tam
Pediapirin
Pediatrix
Pedric
Percocet
Percocet-5
Percocet-Demi
Percogesic with Codeine
Perdolan Mono
Perfalgan
Phenaphen
Phenaphen Caplets
Phenaphen W/Codeine
Phendon
Phenipirin
Phogoglandin
Phrenilin
Phrenilin Forte
Pinex
Piramin
Pirinasol
Plicet
Polmofen
Predimol
Predualito
Prestwick_13
Prodol
Prompt
Prontina
Propacet
Propacet 100
Proval #3
Puernol
Pulmofen
Pyregesic-C
Pyrigesic
Pyrinazine
Pyromed
Quiet World
Redutemp
Reliv
Remedol
Rhinex D-Lay Tablets
Rivalgyl
Robigesic
Robitussin Night Relief
Rockamol Plus
Rounox
Roxicet
Roxicet 5/500
Roxilox
RubieMol
Rubophen
Rupemol
SK-Apap
SPBio_002836
Salzone
Sanicet
Sanicopyrine
Scanol
Scentalgyl
Scherzatabletten Rezeptur 534
Schmerzex
Sedalito
Sedapap
Semolacin
Servigesic
Seskamol
Setakop
Setamol
Setol
Sifenol
Sinaspril
Sine-Off Sinus Medicine Caplets
Sinedol
Sinmol
Sinubid
Snaplets-FR
Spalt N
Spalt fur die nacht
St Joseph Aspirin-Free
St Joseph Aspirin-Free for Children
St. Joseph Cold Tablets for Children
St. Joseph Fever Reducer
Stanback
Stopain
Sudafed Severe Cold Formula
Sudafed Sinus
Sunetheton
Supac
Supadol mono
Supofen
Suppap
Suppap-120
Suppap-325
Suppap-650
Supramol-M
Synalgos-Dc-A
TYL
Tabalgin
Tachiprina
Talacen
Tapanol
Tapanol Extra Strength Caplets
Tapanol Extra Strength Tablets
Tapar
Tavist Allergy/Sinus/Headache
Tazamol
Temlo
Tempanal
Tempra
Tempra Caplets
Tempra Chewable Tablets
Tempra D.S
Tempra Drops
Tempra Syrup
Tencon
Termacet
Termalgin
Termalgine
Termofren
TheraFlu
Tibinide
Tibizide
Tiffy
Tisin
Tisiodrazida
Titralgan
Tizide
Tocris-1706
Toximer P
Tralgon
Treupel N
Treupel mon
Treuphadol
Triad
Triaminic Sore Throat Formula
Triaprin
Tricoton
Tussapap
Ty lenol
Tycolet
Tylenol
Tylenol (TN)
Tylenol Allergy Sinus
Tylenol Arthritis Extended Relief
Tylenol Caplets
Tylenol Children'S Chewable Tablets
Tylenol Children'S Elixir
Tylenol Children'S Suspension Liquid
Tylenol Drops
Tylenol Elixir
Tylenol Extra Strength Adult Liquid Pain Reliever
Tylenol Extra Strength Caplets
Tylenol Extra Strength Gelcaps
Tylenol Extra Strength Tablets
Tylenol Gelcaps
Tylenol Infants Drops
Tylenol Infants" Suspension Drops
Tylenol Junior Strength Caplets
Tylenol Junior Strength Chewable Tablets
Tylenol Regular Strength Caplets
Tylenol Regular Strength Tablets
Tylenol Tablets
Tylex
Tylex CD
Tylol
Tylox
Tylox-325
Tymol
Ultracet
Upsanol
Utragin
Valadol
Valgesic
Valorin
Valorin Extra
Vanquish
Veralgina
Vermidon
Verpol
Viclor Richet
Vicodin
Vicodin Es
Vicodin Hp
Vips
Viruflu
Vivimed
Volpan
Wygesic
Zatinol
Zolben
alpha-Per
p-(Acetylamino)phenol
p-Acetamidophenol
p-Acetaminophenol
p-Acetylaminophenol
p-Hydroxyacetanilide
p-Hydroxyphenolacetamide
p-acetamidophenol
p-acetaminophenol
p-hydroxyacetanilide
p-hydroxyphenolacetamide
3
DonepezilPhase 2275120014-06-43152
Synonyms:
( inverted exclamation markA)-E 2020
1-Benzyl-4-[(5,6-dimethoxy-1-oxoindan-2-yl)methyl]piperidine
120014-06-4
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxy-2,3-dihydroinden-1-one
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxyindan-1-one
AB1004836
AC-6969
AC1L1FAE
AKOS000277311
Aricept
Aricept ODT
C24H29NO3
CHEBI:53289
CHEMBL502
CID3152
D07869
DB00843
Domepezil
Donaz
Donaz (TN)
 
Donepezil
Donepezil (INN)
Donepezil [INN:BAN]
Donepezil hydrochloride
Donepezilo
Donepezilum
Eranz
I06-0343
KBio2_002144
KBio2_004712
KBio2_007280
KBioSS_002144
LS-81819
MolPort-000-881-588
MolPort-003-847-014
NCGC00167537-01
Oprea1_188452
Spectrum5_001662
Spectrum_001664
TL8000531
UNII-8SSC91326P
4DabigatranPhase 2211
5
protease inhibitorsPhase 25157
Synonyms:
 
protease inhibitors
6serineNutraceuticalPhase 2883

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Efficacy of Pain Treatment on Depression in Patients With DementiaRecruitingNCT02267057Phase 4
2The Efficacy, Safety, And Tolerability Of Donepezil HCl (E2020) In Patients With CADASIL Who Have Cognitive ImpairmentCompletedNCT00103948Phase 2
3Safety Study of Dabigatran in CADASILRecruitingNCT01361763Phase 2
4Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)CompletedNCT01114815
5The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage?CompletedNCT02837354
6Impact of tDCS on Cerebral AutoregulationCompletedNCT01865604
7Retinal Nerve Fiber Layer Thickness Changes in Parkinson Disease: A Meta-analysisCompletedNCT01928212
8Imaging Study of Neurovascular Coupling in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)RecruitingNCT02071784
9CADASIL Disease DiscoveryRecruitingNCT02821780
10Retinal Nerve Fiber Layer Thickness Changes in Migraine: A Meta-Analysis of Case-control StudiesRecruitingNCT02196532
11Generation of a Cellular Model of CADASIL From Skin FibroblastsEnrolling by invitationNCT02032225

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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Genetic tests related to Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:

id Genetic test Affiliating Genes
1 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy25

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:

34
Brain, Smooth muscle, Skin, Eye

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

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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:

68 (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_012876rs137852642
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_012891rs75068032
19NOTCH3p.Arg578CysVAR_012892rs769773673
20NOTCH3p.Arg728CysVAR_012893
21NOTCH3p.Arg985CysVAR_012894
22NOTCH3p.Arg1006CysVAR_012895
23NOTCH3p.Arg1031CysVAR_012896
24NOTCH3p.Arg1231CysVAR_012899rs201680145
25NOTCH3p.Cys1261ArgVAR_012900
26NOTCH3p.Cys43GlyVAR_044230
27NOTCH3p.Cys49PheVAR_044231rs193921045
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_044247rs773539041
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_044278rs775267348
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_044289rs137852641
82NOTCH3p.Ser335CysVAR_044290
83NOTCH3p.Tyr337CysVAR_044291
84NOTCH3p.Cys379SerVAR_044292
85NOTCH3p.Cys395ArgVAR_044293
86NOTCH3p.Gly420CysVAR_044294
87NOTCH3p.Arg421CysVAR_044295
88NOTCH3p.Cys428SerVAR_044296rs267606915
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_044309rs777751303
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:

5 (show all 15)
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.457C> T (p.Arg153Cys)single nucleotide variantPathogenicrs797045014GRCh38Chr 19, 15192182: 15192182
3NOTCH3NM_000435.2(NOTCH3): c.3691C> T (p.Arg1231Cys)single nucleotide variantPathogenicrs201680145GRCh38Chr 19, 15179052: 15179052
4NOTCH3NM_000435.2(NOTCH3): c.1187C> G (p.Ser396Cys)single nucleotide variantPathogenicrs863225297GRCh37Chr 19, 15300089: 15300089
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
8NOTCH3NM_000435.2(NOTCH3): c.187G> A (p.Ala63Thr)single nucleotide variantPathogenicrs864621964GRCh37Chr 19, 15308321: 15308321
9NOTCH3NM_000435.2(NOTCH3): c.714_758del45 (p.Asp239_Asp253del)deletionPathogenicrs864621965GRCh38Chr 19, 15191789: 15191833
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
13NOTCH3NM_000435.2(NOTCH3): c.2411_2566del156single nucleotide variantPathogenicrs864621966GRCh37Chr 19, 15295262: 15295262
14NOTCH3NM_000435.2(NOTCH3): c.3058G> C (p.Ala1020Pro)single nucleotide variantPathogenicrs35769976GRCh37Chr 19, 15291576: 15291576
15NOTCH3NM_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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GO Terms for genes affiliated with Cerebral Arteriopathy with Subcortical Infarcts and...

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Sources for Cerebral Arteriopathy with Subcortical Infarcts and...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet