{"id":"723a603b-0e85-53f0-a493-c90c7691e0c8","stable_key":"195e8b84-ca5a-591a-a045-c55c53c8a01c:sodium-napi2c-phosphate","predicate":"disease_variants_associate_with_loss_of","statement":"SLC34A3 mutations segregated with renal phosphate wasting and hypophosphatemic rickets in the studied families.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"f48ca379-1a41-5819-a5bf-4b9b5d3f594d","mechanism_event_label":"The kidney’s sodium/phosphate transporter is important for retaining phosphate.","subject":{"id":"fbd55ffd-f06d-59c2-b149-652d6250e673","slug":"slc34a3","display_name":"Sodium-phosphate cotransporter NaPi-IIc / SLC34A3","entity_type_key":"protein"},"object":{"id":"d5440699-39d4-5b98-b828-4e1d63138882","slug":"renal-phosphate-reabsorption","display_name":"Renal phosphate reabsorption","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"f48ca379-1a41-5819-a5bf-4b9b5d3f594d","stable_key":"195e8b84-ca5a-591a-a045-c55c53c8a01c:sodium-napi2c-phosphate-event","event_type":"observed_intervention","label":"The kidney’s sodium/phosphate transporter is important for retaining phosphate.","description":"SLC34A3 mutations segregated with renal phosphate wasting and hypophosphatemic rickets in the studied families.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"38de8704-84db-5770-ac1d-242cd787e798","slug":"sodium-ion","display_name":"Sodium ion","entity_type_key":"ion"},"role":"coupling_ion","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"ee63fe8e-92f3-552f-8049-a5f1fa1e1523","slug":"phosphate-ion","display_name":"Inorganic phosphate (Pi; protonation depends on pH)","entity_type_key":"ion"},"role":"transported_nutrient","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":"d5440699-39d4-5b98-b828-4e1d63138882","slug":"renal-phosphate-reabsorption","display_name":"Renal phosphate reabsorption","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":"The kidney’s sodium/phosphate transporter is important for retaining phosphate.","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":"eee96fe4-348f-50cb-a19f-4eb4257788f8","evidence_kind":"source_excerpt","locator":"Lines 668-679","start_line":668,"end_line":679,"excerpt":"### sodium-napi2c-phosphate\nSLC34A3 mutations segregated with renal phosphate wasting and hypophosphatemic rickets in the studied families.\nCondition category: machinery_impairment\nnutrient_topic: Sodium research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The kidney’s sodium/phosphate transporter is important for retaining phosphate.\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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