|
MCID: CDS001
|
Cadasil malady |
|
6 drugs, 22 genes, 7 tissues, 510 related diseases, 20 phenotypes, 152 articles, clinical trials, genetic tests.
|
|
|
Sources: 30NIH Rare Diseases, 23MedlinePlus, 2CDC, 15GeneReviews, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NINDS: 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.31
MalaCards: Cadasil, also known as stroke, is related to lewy body dementia and transient cerebral ischemia. An important gene associated with Cadasil is NOTCH3 (notch 3), and among its related pathways are Signaling by NOTCH1 and Dorso-ventral axis formation. The drugs citalopram hydrobromide and citalopram and the compounds rapamycin and chelerythrine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and smooth muscle, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system. NIH Rare Diseases: 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.30 MedlinePlus: 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 stroke23 CDC: Stroke is a leading cause of death in the United States. Over 800,000 people die in the U.S. each year from cardiovascular disease and strokes.12 Genetics Home Reference: 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 in the brain. An abnormality in the muscle cells surrounding these blood vessels (vascular smooth muscle cells) gradually destroys these cells. The resulting blood vessel damage can cause migraines and other impairments of normal brain function. Later in life, the damaged blood vessels can cause reduced blood flow to various tissues in the body (ischemia). Although the severity of symptoms varies among those affected, people with CADASIL typically have more than one stroke in their lifetime. Recurrent strokes can progressively damage the brain, causing loss of intellectual function (dementia).17 Wikipedia: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is...44 more... OMIM: 125310 GeneReviews summary for cadasil |
|
Sources: 2CDC, 6Disease Ontology, 15GeneReviews, 30NIH Rare Diseases, 17Genetics Home Reference, 31NINDS, 8DISEASES, 32Novoseek , 44Wikipedia, 43UMLS, 33OMIM, 16GeneTests, 23MedlinePlus, 27NCIt, 24MeSH See all sources |
Aliases & Descriptions:
|
|
Sources: 33OMIM See all sources |
Clinical features from OMIM: 125310
|
|
Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for cadasil Drug clinical trials:Search ClinicalTrials for cadasil Search NIH Clinical Center for cadasil Search CenterWatch for cadasil Inferred drug relations via UMLS/NDF-RT:43 28 citalopram, citalopram hydrobromide, prochlorperazine, prochlorperazine edisylate, prochlorperazine maleate, risperidone |
|
Sources: 16GeneTests See all sources |
|
Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to cadasil:22Brain, Heart, Smooth muscle, Skin, T cells, Endothelial, Temporal lobe
|
|
Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to cadasil:25 (show all 20)
|
|
Sources: 35PubMed See all sources |
Articles related to cadasil:(show top 50) (show all 152)
|
|
Sources: 1BioGPS See all sources |
  |
|
Sources: 38Reactome, 20KEGG, 10EMD Millipore, 36QIAGEN, 3Cell Signaling Technology, 41Thomson Reuters See all sources |
Pathways related to cadasil according to GeneDecks:(show all 16)
|
|
Sources: 32Novoseek , 42Tocris Bioscience, 18HMDB, 34PharmGKB, 9DrugBank See all sources |
Compounds related to cadasil according to GeneDecks:(show all 47)
|
|
Sources: 12Gene Ontology See all sources |
Cellular components related to cadasil according to GeneDecks:
Biological processes related to cadasil according to GeneDecks:(show all 23)
Molecular functions related to cadasil according to GeneDecks:
|