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infarcts-leukoencephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100545","is_excluded":false,"label":"Arterial stenosis","onset_id":null,"reference":"ORPHA:136","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fbaf0a911bda5473b921197b87b1b5dd505a4bb8326c2b6a3d2eb9cb2cecd7b1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:136","disease_name":"Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000716","is_excluded":false,"label":"Depression","onset_id":null,"reference":"ORPHA:136","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy\">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. CADASIL is typically caused by pathogenic variants in the NOTCH3 gene. The NOTCH3 gene provides instructions for producing a receptor protein that is important for the normal function of cells called vascular smooth muscle cells, the most common type of cell in most blood vessels. These muscle cells help regulate blood flow by allowing blood vessels to expand and contract. When certain molecules bind to NOTCH3 receptors, the receptors send signals to the nuclei of vascular smooth muscle cells. These signals activate particular genes within these cells.</p><p>Pathogenic variants in the NOTCH3 gene can cause cells to produce an altered version of the NOTCH3 receptor. Pieces of these altered receptors form clumps (aggregates) within vascular smooth muscle cells. Through a mechanism that is not well-understood, this leads to the breakdown of vascular smooth muscle cells and a thickening of the blood vessel walls. These changes affect blood flow in the small vessels (arteries) that carry blood from the heart to the brain, particularly the small arteries deep within the brain (cerebral arteries). Reduced blood flow to parts of the brain can cause areas of tissue death (infarcts) that contribute to the signs and symptoms of CADASIL.</p><p>Pathogenic variants in at least one gene other than the NOTCH3 gene may cause a rare form of CADASIL.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy?"},{"bodyHtml":"<p>Damaged blood vessels reduce blood flow and can cause areas of tissue death (infarcts) throughout the body. An infarct in the brain can lead to a stroke. In individuals with CADASIL, a stroke can occur at any time from childhood to late adulthood, but typically happens during mid-adulthood. People with CADASIL often have more than one stroke in their lifetime. Recurrent strokes can damage the brain over time. Strokes that occur in the subcortical region of the brain, which is involved in reasoning and memory, can cause progressive loss of intellectual function (dementia) and changes in mood and personality.</p><p>Many people with CADASIL also develop leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).</p><p>The age at which the signs and symptoms of CADASIL first begin varies greatly among affected individuals, as does the severity of these features.</p><p>CADASIL is not associated with the common risk factors for stroke and heart attack, such as high blood pressure and high cholesterol, although some affected individuals might also have these health problems.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy","sourceDocuments":[{"name":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy","reviewed":"2008-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:09.232869+00:00","label":"Causes","pageSha256":"d96310875a1107b413b1718c32663fdbf91e9c118f7f73edc122840987f6c27d","sourceUrl":"https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"},"schemaVersion":1}