{"id":"8f901a9c-25f4-5f47-a45f-e4dfcb0e4a92","stable_key":"e13b03e1-a614-543a-ac1b-97df18cfe30d:iron-human-dmt1-defect","predicate":"pathogenic_variants_associated_with","statement":"The patient had microcytic anemia from birth and progressive liver iron overload with compound-heterozygous DMT1 mutations.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"495abd7e-145e-53a8-a207-5a16680dc004","mechanism_event_label":"Having iron in the liver did not ensure that developing red cells could use it.","subject":{"id":"51297f74-59d1-5541-b53f-41ba09c72ae8","slug":"slc11a2","display_name":"Human divalent metal transporter 1 / SLC11A2","entity_type_key":"protein"},"object":{"id":"4f52d953-3959-53d5-b161-316aa9512292","slug":"refractory-microcytic-anemia","display_name":"Microcytic anemia refractory to oral iron in genetic iron-handling disorders","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"495abd7e-145e-53a8-a207-5a16680dc004","stable_key":"e13b03e1-a614-543a-ac1b-97df18cfe30d:iron-human-dmt1-defect-event","event_type":"biochemical_relationship","label":"Having iron in the liver did not ensure that developing red cells could use it.","description":"The patient had microcytic anemia from birth and progressive liver iron overload with compound-heterozygous DMT1 mutations.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"89bcaf42-b4ab-5760-8c2e-44eace10cee0","slug":"iron","display_name":"Iron","entity_type_key":"nutrient_element"},"role":"misdistributed_element","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"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":1,"notes":""},{"entity":{"id":"4f52d953-3959-53d5-b161-316aa9512292","slug":"refractory-microcytic-anemia","display_name":"Microcytic anemia refractory to oral iron in genetic iron-handling disorders","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","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":"Having iron in the liver did not ensure that developing red cells could use it.","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":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"1f82f5c0-bb23-5f5c-8384-7de2e834e426","evidence_kind":"source_excerpt","locator":"Lines 1031-1042","start_line":1031,"end_line":1042,"excerpt":"### iron-human-dmt1-defect\nThe patient had microcytic anemia from birth and progressive liver iron overload with compound-heterozygous DMT1 mutations.\nCondition category: machinery_impairment\nnutrient_topic: Iron research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Having iron in the liver did not ensure that developing red cells could use it.\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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