{"id":"ac97d417-9e6b-5331-94b9-fa3c5de24dd8","stable_key":"f992b796-377d-53bf-a39b-7e5d41dbe194:b5-bio-pank2-genetic-disease","predicate":"cause_inherited","statement":"The gene-discovery study identified recessive PANK2 defects as the cause of the studied inherited neurodegeneration with brain iron accumulation.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"d8a32915-ce2d-5047-95d5-36e1551fa6c5","mechanism_event_label":"Inherited damage to a B5-using enzyme can cause disease even without low dietary B5.","subject":{"id":"9a41b84d-0768-5c90-9392-17bb8790c3b3","slug":"human-pank2-pathogenic-genotypes","display_name":"Human biallelic pathogenic PANK2 genotypes","entity_type_key":"gene"},"object":{"id":"11e5e0bc-5dbe-52e7-b998-d0e18076fb1e","slug":"pkan-neurodegeneration","display_name":"Pantothenate kinase-associated neurodegeneration","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"d8a32915-ce2d-5047-95d5-36e1551fa6c5","stable_key":"f992b796-377d-53bf-a39b-7e5d41dbe194:b5-bio-pank2-genetic-disease-event","event_type":"observed_intervention","label":"Inherited damage to a B5-using enzyme can cause disease even without low dietary B5.","description":"The gene-discovery study identified recessive PANK2 defects as the cause of the studied inherited neurodegeneration with brain iron accumulation.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"e6c4bc49-e237-5101-a1f6-3404a4efcee8","slug":"pank2-gene","display_name":"Human PANK2 gene","entity_type_key":"gene"},"role":"affected_gene","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"496571a5-06f5-5aa5-b95b-aae8b6556c7f","slug":"pank2","display_name":"Human pantothenate kinase 2 / PANK2","entity_type_key":"protein"},"role":"encoded_machinery","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"9a41b84d-0768-5c90-9392-17bb8790c3b3","slug":"human-pank2-pathogenic-genotypes","display_name":"Human biallelic pathogenic PANK2 genotypes","entity_type_key":"gene"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"11e5e0bc-5dbe-52e7-b998-d0e18076fb1e","slug":"pkan-neurodegeneration","display_name":"Pantothenate kinase-associated neurodegeneration","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"cross_nutrient","value_text":"false","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human recessive neurodegeneration gene-discovery study","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Inherited recessive PANK2 defects; not a controlled vitamin-B5 depletion.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Primary gene-discovery abstract; proposed oxidative-stress mechanisms are not imported as proven consequences. No evidence here that pantothenate supplementation repairs the genetic lesion.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Pantothenic acid (vitamin B5) research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"pantothenate","display_name":"Pantothenate (vitamin B5)","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Inherited damage to a B5-using enzyme can cause disease even without low dietary B5.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[b5-bio-pank2gene] A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. (2001). https://pubmed.ncbi.nlm.nih.gov/11479594/ DOI: 10.1038/ng572","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Human neurological disease and genetic analysis","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"6238bbf5-62ad-57e3-8a31-32d6c5686940","evidence_kind":"source_excerpt","locator":"Lines 717-728","start_line":717,"end_line":728,"excerpt":"### b5-bio-pank2-genetic-disease\nThe gene-discovery study identified recessive PANK2 defects as the cause of the studied inherited neurodegeneration with brain iron accumulation.\nCondition category: machinery_impairment\nnutrient_topic: Pantothenic acid (vitamin B5) research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Inherited damage to a B5-using enzyme can cause disease even without low dietary B5.\norganism: Homo sapiens\ntissue_or_cell_type: Human neurological disease and genetic analysis\nexperimental_model: Human recessive neurodegeneration gene-discovery study\nlimitations: Primary gene-discovery abstract; proposed oxidative-stress mechanisms are not imported as proven consequences. No evidence here that pantothenate supplementation repairs the genetic lesion.\nexposure: Inherited recessive PANK2 defects; not a controlled vitamin-B5 depletion.\ncross_nutrient: false\n[b5-bio-pank2gene] A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. (2001). https://pubmed.ncbi.nlm.nih.gov/11479594/ DOI: 10.1038/ng572","model_system":"Human recessive neurodegeneration gene-discovery study","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [b5-bio-pank2gene] A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. (2001). https://pubmed.ncbi.nlm.nih.gov/11479594/ DOI: 10.1038/ng572","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"0716b500-dd0b-5425-b9d0-d88bc9c09e86","stable_key":"import-f992b796-377d-53bf-a39b-7e5d41dbe194","title":"Pantothenic acid (vitamin B5): coenzyme A, deficiency and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"b5a49f5a2373ca6064c9a4e014e052dad2f6f199a82bb09b26b82b831c36110b","revision_id":"78f3e793-f084-5ee2-8703-b661c4b650bf","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}