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neurodegeneration","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000737","is_excluded":false,"label":"Irritability","onset_id":null,"reference":"ORPHA:216873","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fdc4acfc7f53e81cdf5ddb9d073a6e3374a75f8be46fb630193833205409870c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:216866","disease_name":"Classic pantothenate kinase-associated neurodegeneration","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002454","is_excluded":false,"label":"Eye of the tiger anomaly of globus pallidus","onset_id":null,"reference":"ORPHA:216866","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/pantothenate-kinase-associated-neurodegeneration\">Pantothenate kinase-associated neurodegeneration</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 PANK2 gene cause pantothenate kinase-associated neurodegeneration.</p><p>The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it plays a critical role in the formation of a molecule called coenzyme A. Found in all living cells, coenzyme A is essential for the body&#x27;s production of energy from carbohydrates, fats, and some protein building blocks (amino acids).</p><p>Mutations in the PANK2 gene likely result in the production of an abnormal version of pantothenate kinase 2 or prevent cells from making any of this enzyme. A lack of functional pantothenate kinase 2 disrupts the production of coenzyme A and allows potentially harmful compounds to build up in the brain. This buildup leads to swelling and tissue damage, and allows iron to accumulate abnormally in certain parts of the brain. Researchers have not determined how these changes result in the specific features of pantothenate kinase-associated neurodegeneration. Because pantothenate kinase 2 functions in mitochondria, the signs and symptoms of this condition may be related to impaired energy production.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pantothenate-kinase-associated-neurodegeneration/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Pantothenate kinase-associated neurodegeneration?"},{"bodyHtml":"<p>Pantothenate kinase-associated neurodegeneration is characterized by an abnormal buildup of iron in certain areas of the brain. A particular change called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder.</p><p>Researchers have described classic and atypical forms of pantothenate kinase-associated neurodegeneration. The classic form usually appears in early childhood, causing severe problems with movement that worsen rapidly. Features of the atypical form appear later in childhood or adolescence and progress more slowly. Signs and symptoms vary, but the atypical form is more likely than the classic form to involve speech defects and psychiatric problems.</p><p>A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) syndrome, which was historically described as a separate syndrome, is now considered part of pantothenate kinase-associated neurodegeneration.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pantothenate-kinase-associated-neurodegeneration\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pantothenate-kinase-associated-neurodegeneration","sourceDocuments":[{"name":"Pantothenate kinase-associated neurodegeneration","reviewed":"2006-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:03.318713+00:00","label":"Causes","pageSha256":"d09e48cb9a351a56e30181c3c80edd9dbec2cf098b2ba7e31d3db8ae4d7a6909","sourceUrl":"https://medlineplus.gov/genetics/condition/pantothenate-kinase-associated-neurodegeneration/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pantothenate-kinase-associated-neurodegeneration"}],"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":"Pantothenate kinase-associated neurodegeneration"},"schemaVersion":1}