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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Grange syndrome is caused by pathogenic variants in the YY1AP1 gene. The protein produced from the YY1AP1 gene is part of a group of proteins (a complex) that helps regulate several critical functions within cells. These include gene activity (expression), cell maturation (differentiation), and cell growth and division (proliferation). Researchers believe that this protein complex plays a particularly important role in the development of bones and of smooth muscle cells, which line the walls of blood vessels.</p><p>Pathogenic variants in the YY1AP1 gene cause cells to make a version of the protein that does not function properly. This abnormal protein likely disrupts the function of the protein complex, which leads to reduced differentiation of smooth muscle cells. As a result, blood vessel walls do not develop normally, leading to stenosis and occlusion. Similarly, impaired differentiation of bone cells likely contributes to the bone abnormalities seen in people with Grange syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/grange-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Grange syndrome?"},{"bodyHtml":"<p>Additional features of Grange syndrome can include short fingers and toes (brachydactyly), fusion of some of the fingers or toes (syndactyly), fragile bones that are prone to breakage, and learning disabilities. Most people with this disorder also have heart defects that are present from birth.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/grange-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"grange-syndrome","sourceDocuments":[{"name":"Grange syndrome","reviewed":"2017-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:56.422579+00:00","label":"Causes","pageSha256":"e87eb1fd613a1564e1665da2bbbebe20ce3e08080ba03dcf3e06218353cc857b","sourceUrl":"https://medlineplus.gov/genetics/condition/grange-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/grange-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. 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