{"id":"2df0f92d-5b11-5289-a1e6-49f8055b6fb9","stable_key":"195e8b84-ca5a-591a-a045-c55c53c8a01c:sodium-napi2c-calcitriol","predicate":"disease_associated_with_high","statement":"The HHRH phenotype included elevated circulating 1,25-dihydroxyvitamin D with normal or low-normal FGF23.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"6217d386-9bb5-581a-82f4-78d0a68c2b12","mechanism_event_label":"A phosphate-handling defect can change the vitamin D environment.","subject":{"id":"fbd55ffd-f06d-59c2-b149-652d6250e673","slug":"slc34a3","display_name":"Sodium-phosphate cotransporter NaPi-IIc / SLC34A3","entity_type_key":"protein"},"object":{"id":"91a16b02-ae37-5df7-976f-d6cd54b58cda","slug":"circulating-calcitriol-concentration","display_name":"Circulating calcitriol concentration","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"6217d386-9bb5-581a-82f4-78d0a68c2b12","stable_key":"195e8b84-ca5a-591a-a045-c55c53c8a01c:sodium-napi2c-calcitriol-event","event_type":"observed_intervention","label":"A phosphate-handling defect can change the vitamin D environment.","description":"The HHRH phenotype included elevated circulating 1,25-dihydroxyvitamin D with normal or low-normal FGF23.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"f5156c24-108f-5746-b114-ed764e79a3f4","slug":"calcitriol","display_name":"Calcitriol","entity_type_key":"small_molecule"},"role":"measured_metabolite","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"6edbc5a6-fcb5-516d-9c86-66950a8984b3","slug":"fgf23","display_name":"Fibroblast growth factor 23 / FGF23","entity_type_key":"protein"},"role":"measured_hormone","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"fbd55ffd-f06d-59c2-b149-652d6250e673","slug":"slc34a3","display_name":"Sodium-phosphate cotransporter NaPi-IIc / SLC34A3","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"91a16b02-ae37-5df7-976f-d6cd54b58cda","slug":"circulating-calcitriol-concentration","display_name":"Circulating calcitriol concentration","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":"evidence_span","value_text":"{\"source_cache\": \"artifacts/sodium-research/16358215.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"876374dd0624cf69b89f3f5b17e5be423d7d9a0358f135add88f2493314d2ceb\", \"start_char\": 0, \"end_char\": 1515, \"text_sha256\": \"876374dd0624cf69b89f3f5b17e5be423d7d9a0358f135add88f2493314d2ceb\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Mapping and sequencing in families with hereditary hypophosphatemic rickets with hypercalciuria","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"SLC34A3 disease-associated mutations in five families","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Genotype–phenotype evidence supports a primary renal defect; downstream calcitriol/calcium pattern is observed, not a dietary sodium intervention.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Sodium research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"sodium","display_name":"Sodium","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A phosphate-handling defect can change the vitamin D environment.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[sodium-p16358215] Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. (2006). https://pubmed.ncbi.nlm.nih.gov/16358215/ DOI: 10.1086/499410","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Renal proximal tubule and systemic mineral phenotype","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":"1df89f7a-b27d-5cb7-a7ab-2fdb3ed5cf9b","evidence_kind":"source_excerpt","locator":"Lines 681-692","start_line":681,"end_line":692,"excerpt":"### sodium-napi2c-calcitriol\nThe HHRH phenotype included elevated circulating 1,25-dihydroxyvitamin D with normal or low-normal FGF23.\nCondition category: machinery_impairment\nnutrient_topic: Sodium research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A phosphate-handling defect can change the vitamin D environment.\norganism: Human\ntissue_or_cell_type: Renal proximal tubule and systemic mineral phenotype\nexperimental_model: Mapping and sequencing in families with hereditary hypophosphatemic rickets with hypercalciuria\nlimitations: Genotype–phenotype evidence supports a primary renal defect; downstream calcitriol/calcium pattern is observed, not a dietary sodium intervention.\nexposure: SLC34A3 disease-associated mutations in five families\nevidence_span: {\"source_cache\": \"artifacts/sodium-research/16358215.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"876374dd0624cf69b89f3f5b17e5be423d7d9a0358f135add88f2493314d2ceb\", \"start_char\": 0, \"end_char\": 1515, \"text_sha256\": \"876374dd0624cf69b89f3f5b17e5be423d7d9a0358f135add88f2493314d2ceb\"}\n[sodium-p16358215] Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. 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