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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Changes in the AMN or CUBN gene cause Imerslund-Gräsbeck syndrome. Genetic changes that cause disease are called pathogenic variants. The AMN gene provides instructions for making a protein called amnionless, and the CUBN gene provides instructions for making a protein called cubilin. Together, these proteins help the body absorb vitamin B12 from food, which is especially important since the body cannot make this vitamin. Vitamin B12 is essential for the formation of DNA and for the chemical reactions that are involved in converting food into energy (energy metabolism). Vitamin B12 also plays a key role in making red blood cells and maintaining the nerve cells in the brain and spinal cord (central nervous system).</p><p>Amnionless and cubilin form a complex called the cubam receptor, which helps the body absorb vitamin B12 in the intestines. Within the small intestine, amnionless anchors cubilin to the cell membrane, which allows cubilin to interact with vitamin B12. During digestion, vitamin B12 and another protein called intrinsic factor bind to cubilin as they pass through the small intestine. Amnionless helps transfer this whole complex into the intestinal cells. Vitamin B12 is then released into the blood and travels throughout the body. In the kidneys, amnionless and cubilin are involved in returning proteins to the bloodstream (reabsorption) that would otherwise be released in the urine.</p><p>Many of the pathogenic variants in the AMN or CUBN genes lead to changes in the amnionless and cubilin proteins that prevent these proteins from reaching the cell membrane. This impairs the absorption of vitamin B12 from the intestine, which disrupts red blood cell development and leads to megalobalastic anemia. Low levels of vitamin B12 can also affect the central nervous system, which causes neurological problems. In the kidneys, these changes can disrupt the reabsorption of proteins, which leads to proteinuria.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/imerslund-grasbeck-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Imerslund-Gräsbeck syndrome?"},{"bodyHtml":"<p>The signs and symptoms of Imerslund-Gräsbeck syndrome usually begin in early childhood. Megaloblastic anemia leads to many of these signs and symptoms, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), and fatigue. Additional signs and symptoms can include mouth ulcers and gastrointestinal problems, such as vomiting and diarrhea.  Affected individuals may also have recurring respiratory infections.</p><p>Imerslund-Gräsbeck syndrome can also cause neurological problems, such as a lack of energy (lethargy); weak muscle tone (hypotonia); developmental delays; problems with movement and balance (ataxia); or abnormal sensations, such as numbness or tingling in the hands and feet. Some affected individuals have more severe neurological signs and symptoms, such as seizures or a decline in intellectual abilities.</p><p>Abnormalities of the organs or tissues that make up the urinary tract have been reported in some individuals with Imerslund-Gräsbeck syndrome, but the cause of these problems is not well understood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/imerslund-grasbeck-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"imerslund-grasbeck-syndrome","sourceDocuments":[{"name":"Imerslund-Gräsbeck syndrome","reviewed":"2026-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:25.846721+00:00","label":"Causes","pageSha256":"aff620cfa7f0f64217f13ee5d666cd89b164d95a7537dfdd29f0ea9d1ffb4ce6","sourceUrl":"https://medlineplus.gov/genetics/condition/imerslund-grasbeck-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/imerslund-grasbeck-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":"Imerslund-Gräsbeck syndrome"},"schemaVersion":1}