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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Renal coloboma syndrome is caused by variants (also known as mutations) in the PAX2 gene. The PAX2 gene provides instructions for making a protein that is involved in the early development of the eyes, ears, brain and spinal cord (central nervous system), kidneys, and genital tract. The PAX2 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX2 protein is called a transcription factor. After birth, the PAX2 protein is thought to protect against cell death during periods of cellular stress.</p><p>Variants in the PAX2 gene lead to the production of a nonfunctional PAX2 protein that is unable to aid in development, causing incomplete formation of certain tissues. Why the kidneys and eyes are specifically affected by PAX2 gene variants is unclear.</p><p>Approximately half of those affected with renal coloboma syndrome do not have an identified variant in the PAX2 gene. In these cases, the cause of the disorder is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Renal coloboma syndrome?"},{"bodyHtml":"<p>Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision.</p><p>Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"renal-coloboma-syndrome","sourceDocuments":[{"name":"Renal coloboma syndrome","reviewed":"2022-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:40.852760+00:00","label":"Causes","pageSha256":"be8c8ca69542638c77ea416b8916de5417a29ac3a5045340a24506ee57093ebb","sourceUrl":"https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome"}],"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":"Renal coloboma syndrome"},"schemaVersion":1}