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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune system. The ATM protein assists cells in recognizing damaged or broken DNA strands and coordinates DNA repair by activating enzymes that fix the broken strands. Efficient repair of damaged DNA strands helps maintain the stability of the cell&#x27;s genetic information.</p><p>Variants in the ATM gene reduce or eliminate the function of the ATM protein. Without this protein, cells become unstable and die. Cells in the part of the brain involved in coordinating movements (the cerebellum) are particularly affected by loss of the ATM protein. The loss of these brain cells causes some of the movement problems characteristic of ataxia-telangiectasia. Variants in the ATM gene also prevent cells from responding correctly to DNA damage, which allows breaks in DNA strands to accumulate and can lead to the formation of cancerous tumors.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Ataxia-telangiectasia?"},{"bodyHtml":"<p>Affected individuals tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. The level of this protein is normally increased in the bloodstream of pregnant women, but it is unknown why individuals with ataxia-telangiectasia have elevated AFP or what effects it has in these individuals.</p><p>People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia) and cancer of immune system cells (lymphoma). Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays.</p><p>Ataxia-telangiectasia has no cure, though treatments might improve some symptoms. These treatments include physical and speech therapy and improving deficits in the immune system and nutrition. The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/ataxia-telangiectasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"ataxia-telangiectasia","sourceDocuments":[{"name":"Ataxia-telangiectasia","reviewed":"2022-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:32.774799+00:00","label":"Causes","pageSha256":"77078279d35a4391f864e8a82266fb06a18fa3fe40ce13b21e162f936146fbd9","sourceUrl":"https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/ataxia-telangiectasia"}],"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":"Ataxia-telangiectasia"},"schemaVersion":1}