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phenomenon","onset_id":null,"reference":"ORPHA:401945","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/moyamoya-disease\">Moyamoya disease</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>The genetics of moyamoya disease are not well understood. Research suggests that the condition can be passed through families, and changes in one gene, RNF213, have been associated with the condition. Other genes that have not been identified may be involved in moyamoya disease. It is also likely that other factors (such as infection or inflammation) in combination with genetic factors play a role in the condition&#x27;s development.</p><p>The RNF213 gene provides instructions for making a protein whose function is unknown. However, research suggests that the RNF213 protein is involved in the proper development of blood vessels.</p><p>Changes in the RNF213 gene involved in moyamoya disease replace single protein building blocks (amino acids) in the RNF213 protein. The effect of these changes on the function of the RNF213 protein is unknown, and researchers are unsure how the changes contribute to the narrowing of blood vessels or the characteristic blood vessel growth of moyamoya disease. For unknown reasons, people with moyamoya disease have elevated levels of proteins involved in cell and tissue growth, including the growth of blood vessels (angiogenesis). An excess of these proteins could account for the growth of new blood vessels characteristic of moyamoya disease. It is not clear if changes in the RNF213 gene are involved in the overproduction of these proteins.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/moyamoya-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Moyamoya disease?"},{"bodyHtml":"<p>Moyamoya disease commonly begins either around age 5 or in a person&#x27;s thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated.</p><p>Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves&#x27; disease. These individuals are said to have moyamoya syndrome.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/moyamoya-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"moyamoya-disease","sourceDocuments":[{"name":"Moyamoya disease","reviewed":"2015-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:26.865574+00:00","label":"Causes","pageSha256":"55de59089f747238a9caff5a618979b455710b321d97a22d472893f0b698d8c8","sourceUrl":"https://medlineplus.gov/genetics/condition/moyamoya-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/moyamoya-disease"}],"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":"Moyamoya disease"},"schemaVersion":1}