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dyskinesia","onset_id":null,"reference":"ORPHA:157846","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ff9bc5bb2b71e13516b10507ea2f3803a7bf14da4ec5d15beb9948cbb25b33fd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:157846","disease_name":"Neuroferritinopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004373","is_excluded":false,"label":"Focal dystonia","onset_id":null,"reference":"ORPHA:157846","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/neuroferritinopathy\">Neuroferritinopathy</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 FTL gene cause neuroferritinopathy. The FTL gene provides instructions for making the ferritin light chain, which is one part (subunit) of a protein called ferritin. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms. This storage capacity allows ferritin to regulate the amount of iron in the cells and tissues.</p><p>Mutations in the FTL gene that cause neuroferritinopathy are believed to reduce ferritin&#x27;s ability to store iron, resulting in the release of excess iron in nerve cells (neurons) of the brain. The cells may respond by producing more ferritin in an attempt to handle the free iron. Excess iron and ferritin accumulate in the brain, particularly in the basal ganglia, resulting in the movement problems and other neurological changes seen in neuroferritinopathy.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/neuroferritinopathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Neuroferritinopathy?"},{"bodyHtml":"<p>Intelligence is unaffected in most people with neuroferritinopathy, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/neuroferritinopathy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"neuroferritinopathy","sourceDocuments":[{"name":"Neuroferritinopathy","reviewed":"2008-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:44.543692+00:00","label":"Causes","pageSha256":"ecf05abb519b2b0308bec8be11b0be4b424ce9a01f980ea33f7abd9aef677a20","sourceUrl":"https://medlineplus.gov/genetics/condition/neuroferritinopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/neuroferritinopathy"}],"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":"Neuroferritinopathy"},"schemaVersion":1}