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dysplasia","onset_id":null,"reference":"ORPHA:534","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fe7dde86335885afcb5ad444ee7e038549de060a5ac9e6e1a2747889cc516ce7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:309000","disease_name":"Lowe syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0025131","is_excluded":false,"label":"Finger swelling","onset_id":null,"reference":"OMIM:309000","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/lowe-syndrome\">Lowe syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. By controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances to and from the cell membrane. This enzyme is also involved in the regulation of the actin cytoskeleton, which is a network of fibers that make up the cell&#x27;s structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.</p><p>Some mutations in the OCRL gene prevent the production of any OCRL enzyme. Other mutations reduce or eliminate the activity of the enzyme or prevent it from interacting with other proteins within the cell. Researchers are working to determine how OCRL mutations cause the characteristic features of Lowe syndrome. Because the OCRL enzyme is present throughout the body, it is unclear why the medical problems associated with this condition are mostly limited to the brain, kidneys, and eyes. It is possible that other enzymes may be able to compensate for the defective OCRL enzyme in unaffected tissues.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/lowe-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Lowe syndrome?"},{"bodyHtml":"<p>Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes.</p><p>Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Behavioral problems and seizures have also been reported in children with this condition. Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills such as sitting, standing, and walking.</p><p>Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi syndrome, frequently develop in individuals with Lowe syndrome. The kidneys play an essential role in maintaining the right amounts of minerals, salts, water, and other substances in the body. In individuals with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. Instead, the nutrients are excreted in the urine. These kidney problems lead to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis). A loss of salts and nutrients may also impair growth and result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. Progressive kidney problems in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-stage renal disease (ESRD).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/lowe-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"lowe-syndrome","sourceDocuments":[{"name":"Lowe syndrome","reviewed":"2008-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:59.335267+00:00","label":"Causes","pageSha256":"00c82273dfaaf458b6e61d9ebcf450e7a7cec119a47feb2618c0c850496a5708","sourceUrl":"https://medlineplus.gov/genetics/condition/lowe-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/lowe-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":"Lowe syndrome"},"schemaVersion":1}