MCID: CDS001
MIFTS: 50

Cadasil malady

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

Aliases & Classifications for Cadasil

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Aliases & Descriptions for Cadasil:

Name: Cadasil 11 22 46 23 24 47 13 48 37
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 46 23 24
Familial Vascular Leukoencephalopathy 46 24 66
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 46 24
Cadasil Syndrome 69 66
 
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarctsleukoencephalopathy 22
Dementia, Hereditary Multi-Infarct Type 46
Hereditary Dementia, Multi-Infarct Type 24
Casil 46

Classifications:



External Ids:

Disease Ontology11 DOID:13945
MeSH37 D046589
NCIt43 C84606

Summaries for Cadasil

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NINDS:47 Is an inherited form of cerebrovascular disease that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects small blood vessels in the white matter of the brain. A mutation in the Notch3 gene alters the muscular walls in these small arteries. CADASIL is characterized by migraine headaches and multiple strokes progressing to dementia. Other symptoms include cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL ? formerly known by several names, including hereditary multi-infarct dementia ? is one cause of vascular cognitive impairment (dementia caused by lack of blood to several areas of the brain). It is an autosomal dominant inheritance disorder, meaning that one parent carries and passes on the defective gene. Most individuals with CADASIL have a family history of the disorder. However, because the genetic test for CADASIL was not available before 2000, many cases were misdiagnosed as multiple sclerosis, Alzheimer's disease, or other neurodegenerative diseases.

MalaCards based summary: Cadasil, also known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is related to cerebral arteriopathy with subcortical infarcts and leukoencephalopathy and brain small vessel disease with or without ocular anomalies, and has symptoms including cardiovascular symptoms and vascular pain. An important gene associated with Cadasil is NOTCH3 (Notch 3), and among its related pathways are Th2 Differentiation Pathway and TGF Beta Signaling Pathway. Affiliated tissues include brain, heart and testes, and related mouse phenotypes are embryo and normal.

NIH Rare Diseases:46 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: 9/29/2015

GeneReviews summary for NBK1500

Related Diseases for Cadasil

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

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral arteriopathy with subcortical infarcts and leukoencephalopathy11.7
2brain small vessel disease with or without ocular anomalies11.1
3cerebritis10.7
4dementia10.3
5neuritis10.2JAG1, NOTCH3
6chronic subinvolution of uterus10.2APOE, PSEN2
7samson viljoen syndrome10.2APOE, PSEN2
8retinitis10.1
9vascular dementia10.1
10encephalopathy10.1
11surf1-related charcot-marie-tooth disease type 410.1APOE, EGF
12chondromalacia10.1EGF, JAG1
13epidermolysis bullosa with pyloric atresia10.1APOE, PSEN2
14anaerobic pneumonia10.1APOE, NOTCH3
15dyserythropoietic anemia, congenital, type ii10.0EGF, JAG1
16artery disease10.0
17peripheral artery disease10.0
18status epilepticus10.0
19hemiplegic migraine10.0
20hajdu-cheney syndrome9.9JAG1, NOTCH3, RBPJ
21familial hemiplegic migraine9.9
22headache9.9
23endotheliitis9.9
24angiomyolipoma9.9APOE, NOTCH3, PSEN2
25tinea unguium9.8APOE, NOTCH3, PSEN2
26bipolar disorder9.8
27migraine with aura9.8
28arteriovenous malformation9.8
29vascular disease9.8
30cerebrovascular disease9.8
31neuronitis9.8
32baraitser-winter syndrome9.8EGF, RBPJ
33schizophrenia9.7
34myocardial infarction9.7
35multiple system atrophy9.7
36cerebral amyloid angiopathy9.7
37fabry disease9.7
38alopecia9.7
39cerebral hemorrhage9.7
40thrombocytopenia9.7
41balo concentric sclerosis9.7
42sensorineural hearing loss9.7
43hemiplegia9.7
44hypertensive retinopathy9.7
45pathological gambling9.7
46parametritis9.7
47epilepsy9.7
48focal epilepsy9.7
49lateral sclerosis9.7
50cervicitis9.7

Graphical network of the top 20 diseases related to Cadasil:



Diseases related to cadasil

Symptoms for Cadasil

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UMLS symptoms related to Cadasil:


cardiovascular symptoms, vascular pain

Drugs & Therapeutics for Cadasil

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Drugs for Cadasil (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
8CADASIL Disease DiscoveryRecruitingNCT02821780
9Imaging Study of Neurovascular Coupling in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)RecruitingNCT02071784
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 Cadasil


Cochrane evidence based reviews: cadasil

Genetic Tests for Cadasil

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Genetic tests related to Cadasil:

id Genetic test Affiliating Genes
1 Cadasil23 NOTCH3

Anatomical Context for Cadasil

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MalaCards organs/tissues related to Cadasil:

34
Brain, Heart, Testes, Skin, Smooth muscle, Endothelial, Cortex

Animal Models for Cadasil or affiliated genes

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MGI Mouse Phenotypes related to Cadasil:

39 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.3JAG1, LTBP1, NOTCH3, PSEN2, RBPJ
2MP:00028737.9DCN, EGF, JAG1, NOTCH3, PSEN2, RBPJ
3MP:00053817.8APOE, DCN, EGF, JAG1, PSEN2, RBPJ
4MP:00053887.8APOE, DCN, NOTCH3, PSEN2, RBPJ, TIMP3
5MP:00053697.6APOE, DCN, JAG1, LTBP1, NOTCH3, RBPJ
6MP:00053847.4APOE, DCN, JAG1, NOTCH3, PSEN2, RBPJ
7MP:00053917.1APOE, DCN, EGF, JAG1, NOTCH3, PSEN2
8MP:00053857.1APOE, JAG1, LTBP1, NOTCH3, PSEN2, RBPJ
9MP:00053876.9APOE, DCN, EGF, LTBP1, NOTCH3, PSEN2
10MP:00053796.8APOE, DCN, EGF, JAG1, NOTCH3, PSEN2
11MP:00053976.8APOE, DCN, JAG1, LTBP1, NOTCH3, PSEN2
12MP:00053866.7APOE, DCN, JAG1, NOTCH3, PSEN2, RBPJ
13MP:00107686.6APOE, DCN, JAG1, LTBP1, NOTCH3, PSEN2
14MP:00107716.6APOE, DCN, EGF, JAG1, LTBP1, NOTCH3
15MP:00053676.4APOE, DCN, JAG1, LTBP1, NOTCH3, PSEN2
16MP:00053766.4APOE, DCN, JAG1, LTBP1, NOTCH3, PSEN2
17MP:00053786.0APOE, DCN, EGF, JAG1, LTBP1, NOTCH3

Publications for Cadasil

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Articles related to Cadasil:

(show top 50)    (show all 576)
idTitleAuthorsYear
1
Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice. (26648042)
2016
2
Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke. (26305465)
2015
3
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation. (26715087)
2015
4
CADASIL: MRI may be normal in the fourth decade of life - a case report. (26646783)
2015
5
The Small Leucine-Rich Proteoglycan BGN Accumulates in CADASIL and Binds to NOTCH3. (25578324)
2015
6
Recurrent status epilepticus as the primary neurological manifestation of CADASIL: A case report. (25870789)
2015
7
APOE E92 is associated with white matter hyperintensity volume in CADASIL. (25920955)
2015
8
Cerebral hyperperfusion on arterial spin labeling MRI during CADASIL migrainous encephalopathy. (26567267)
2015
9
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. (26308724)
2015
10
CADASIL and autoimmunity: coexistence in a family with the R169C mutation at exon 4 of the NOTCH3 gene. (25412914)
2014
11
Visual system involvement in CADASIL. (23635925)
2013
12
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. (21852154)
2013
13
Is the SHRSP [corrected] strain a suitable model of spontaneous CADASIL? (21809043)
2012
14
Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3. (23028706)
2012
15
Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation. (22079340)
2012
16
Verbal memory impairment in subcortical ischemic vascular disease: a descriptive analysis in CADASIL. (20149485)
2011
17
CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation. (21217157)
2011
18
Genetically confirmed CADASIL in a pediatric patient. (21078731)
2010
19
Acetazolamide improves cerebral hemodynamics in CADASIL. (20227091)
2010
20
Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL. (21488283)
2010
21
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka. (19683925)
2009
22
The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age. (19252787)
2009
23
Methodological issues in right-to-left shunt detection in CADASIL patients. (19478217)
2009
24
Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL. (18296124)
2008
25
Psychiatric disturbances in CADASIL: a brief review. (18384453)
2008
26
CADASIL in Arabs: clinical and genetic findings. (17996090)
2007
27
Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient. (16367901)
2006
28
Multiple teeth extractions in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), treated with ticlopidine. (16360869)
2006
29
Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study. (16844717)
2006
30
Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. (16807713)
2006
31
Peripheral neuropathy in CADASIL. (15827866)
2005
32
Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy. (15569862)
2005
33
CADASIL mutations impair Notch3 glycosylation by Fringe. (15857853)
2005
34
CADASIL or CADVaSIL? (15068168)
2004
35
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. (12756589)
2003
36
Silent infarcts demonstrated by diffusion-weighted MRI in CADASIL. (12646764)
2003
37
Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. (12810003)
2003
38
Screening for CADASIL mutations. (12557863)
2003
39
Unusual presentation of CADASIL with reversible coma and confusion. (12370482)
2002
40
Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). (11274696)
2001
41
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. (11706120)
2001
42
CADASIL: Notch signaling defect or protein accumulation problem? (10712425)
2000
43
Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking. (10926955)
2000
44
CADASIL: hereditary arteriopathy leading to multiple brain infarcts and dementia. (10818516)
2000
45
Characteristic MR lesion pattern and correlation of T1 and T2 lesion volume with neurologic and neuropsychological findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (9974062)
1999
46
Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening. (9808243)
1998
47
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only. (9633716)
1998
48
Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia. (9329692)
1997
49
Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. (7783868)
1995
50
Multiple subcortical infarction: CADASIL in context. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy. (7564722)
1995

Variations for Cadasil

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Expression for genes affiliated with Cadasil

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Search GEO for disease gene expression data for Cadasil.

Pathways for genes affiliated with Cadasil

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Pathways related to Cadasil according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
19.7JAG1, RBPJ
29.5EGF, LTBP1
3
Show member pathways
9.4JAG1, NOTCH3, RBPJ
4
Show member pathways
9.2JAG1, NOTCH3, TIMP3
59.2APOE, PSEN2
69.0EGF, LTBP1, TIMP3
79.0NOTCH3, PSEN2, RBPJ
88.9APOE, NOTCH3, PSEN2
9
Show member pathways
8.9JAG1, PSEN2, RBPJ
10
Show member pathways
8.9JAG1, PSEN2, RBPJ
11
Show member pathways
8.5JAG1, NOTCH3, PSEN2, RBPJ
128.5JAG1, NOTCH3, PSEN2, RBPJ
138.5JAG1, NOTCH3, PSEN2, RBPJ
14
Show member pathways
8.5EGF, JAG1, PSEN2, RBPJ
15
Show member pathways
8.2EGF, JAG1, NOTCH3, PSEN2, RBPJ
16
Show member pathways
7.7DCN, EGF, JAG1, NOTCH3, PSEN2, RBPJ
17
Show member pathways
7.5EGF, LTBP1, NOTCH3, PSEN2, RBPJ, TIMP3

GO Terms for genes affiliated with Cadasil

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.0DCN, LTBP1, TIMP3
2extracellular matrixGO:00310128.5APOE, DCN, LTBP1, TIMP3
3extracellular regionGO:00055767.3APOE, DCN, EGF, JAG1, LTBP1, NOTCH3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron differentiationGO:00456659.9JAG1, NOTCH3
2artery morphogenesisGO:00488449.7APOE, NOTCH3, RBPJ
3blood vessel remodelingGO:00019749.7JAG1, RBPJ
4Notch signaling involved in heart developmentGO:00613149.6JAG1, RBPJ
5negative regulation of cell differentiationGO:00455969.6JAG1, NOTCH3, RBPJ
6angiogenesisGO:00015259.5EGF, JAG1, RBPJ
7Notch receptor processingGO:00072208.6JAG1, NOTCH3, PSEN2
8Notch signaling pathwayGO:00072198.5JAG1, NOTCH3, PSEN2, RBPJ

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055098.8EGF, JAG1, LTBP1, NOTCH3

Sources for Cadasil

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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