{"id":"f710ef1b-d57b-5094-a503-ef41dccd3685","stable_key":"e13b03e1-a614-543a-ac1b-97df18cfe30d:iron-human-dmt1-ferritin","predicate":"defect_limits_interpretation_of","statement":"The reported DMT1-deficiency syndrome included liver iron overload despite normal to moderately elevated serum ferritin.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"2045057c-b52c-5ef0-bdad-7e5207e6fb34","mechanism_event_label":"A storage marker could understate tissue loading in this specific genetic disorder.","subject":{"id":"51297f74-59d1-5541-b53f-41ba09c72ae8","slug":"slc11a2","display_name":"Human divalent metal transporter 1 / SLC11A2","entity_type_key":"protein"},"object":{"id":"9b302959-20f9-5764-9635-793e8435e278","slug":"serum-ferritin-concentration","display_name":"Serum ferritin concentration","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"2045057c-b52c-5ef0-bdad-7e5207e6fb34","stable_key":"e13b03e1-a614-543a-ac1b-97df18cfe30d:iron-human-dmt1-ferritin-event","event_type":"observed_intervention","label":"A storage marker could understate tissue loading in this specific genetic disorder.","description":"The reported DMT1-deficiency syndrome included liver iron overload despite normal to moderately elevated serum ferritin.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"51297f74-59d1-5541-b53f-41ba09c72ae8","slug":"slc11a2","display_name":"Human divalent metal transporter 1 / SLC11A2","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"9b302959-20f9-5764-9635-793e8435e278","slug":"serum-ferritin-concentration","display_name":"Serum ferritin concentration","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"biomarker_context","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/iron-research/16439678.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"ec63a88b5bebf3aecdfdea088979b051141b6ce89ceec92b66d219b99b6512c2\", \"start_char\": 0, \"end_char\": 1003, \"text_sha256\": \"ec63a88b5bebf3aecdfdea088979b051141b6ce89ceec92b66d219b99b6512c2\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human case with compound-heterozygous DMT1 variants","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"SLC11A2 V114 deletion and G212V variants","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Rare genetic syndrome; ferritin is not a universal quantitative proxy for liver iron in this setting.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Iron research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"iron","display_name":"Iron","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human patient, compared with two prior cases","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A storage marker could understate tissue loading in this specific genetic disorder.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[iron-p16439678] Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. (2006). https://pubmed.ncbi.nlm.nih.gov/16439678/ DOI: 10.1182/blood-2005-10-4269","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Red-cell indices, liver and blood markers","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"biomarker_context","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"d588afac-77f9-50a2-b283-2388bc14b258","evidence_kind":"source_excerpt","locator":"Lines 1044-1055","start_line":1044,"end_line":1055,"excerpt":"### iron-human-dmt1-ferritin\nThe reported DMT1-deficiency syndrome included liver iron overload despite normal to moderately elevated serum ferritin.\nCondition category: biomarker_context\nnutrient_topic: Iron research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A storage marker could understate tissue loading in this specific genetic disorder.\norganism: Human patient, compared with two prior cases\ntissue_or_cell_type: Red-cell indices, liver and blood markers\nexperimental_model: Human case with compound-heterozygous DMT1 variants\nlimitations: Rare genetic syndrome; ferritin is not a universal quantitative proxy for liver iron in this setting.\nexposure: SLC11A2 V114 deletion and G212V variants\nevidence_span: {\"source_cache\": \"artifacts/iron-research/16439678.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"ec63a88b5bebf3aecdfdea088979b051141b6ce89ceec92b66d219b99b6512c2\", \"start_char\": 0, \"end_char\": 1003, \"text_sha256\": \"ec63a88b5bebf3aecdfdea088979b051141b6ce89ceec92b66d219b99b6512c2\"}\n[iron-p16439678] Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. (2006). https://pubmed.ncbi.nlm.nih.gov/16439678/ DOI: 10.1182/blood-2005-10-4269","model_system":"Human case with compound-heterozygous DMT1 variants","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [iron-p16439678] Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. (2006). https://pubmed.ncbi.nlm.nih.gov/16439678/ DOI: 10.1182/blood-2005-10-4269","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"1560864c-91d1-58dc-90c4-49bf61aba3de","stable_key":"import-e13b03e1-a614-543a-ac1b-97df18cfe30d","title":"Iron: absorption, trafficking, iron-dependent enzymes 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. 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