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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes each provide instructions for making one component of a protein called collagen IV. Collagen IV plays an important role in the kidneys, specifically in structures called glomeruli. Glomeruli are clusters of specialized blood vessels that remove water and waste products from blood and create urine.</p><p>Variants in these genes result in the production of abnormal versions of collagen IV in glomeruli. Kidneys with abnormal collagen IV cannot properly filter the blood, which allows blood and protein to pass into the urine, causing hematuria and proteinuria. Gradual scarring of the kidneys occurs, eventually leading to kidney failure in many people with Alport syndrome.</p><p>Collagen IV is also an important component of inner ear structures, particularly the organ of Corti, that transform sound waves into nerve impulses for the brain. Altered versions of collagen IV in the inner ear impair its function, which can lead to hearing loss.</p><p>In the eye, collagen IV is important for maintaining the shape of the lens and the normal color of the retina. Abnormal versions of collagen IV in the eye can result in misshapen lenses and an abnormally colored retina.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/alport-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Alport syndrome?"},{"bodyHtml":"<p>People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD).</p><p>In late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/alport-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"alport-syndrome","sourceDocuments":[{"name":"Alport syndrome","reviewed":"2023-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:18.410977+00:00","label":"Causes","pageSha256":"41d95438fe6c47bc3ef46fd780846c967f6de09137b372bb7b70b76e0072d135","sourceUrl":"https://medlineplus.gov/genetics/condition/alport-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/alport-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":"Alport syndrome"},"schemaVersion":1}