{"id":"1f5907a6-00ca-5851-83a7-f1cfc1f9fd4e","stable_key":"0f17db03-207f-5910-ac8e-13dfc2f378ce:human-cldn19-magnesium-wasting","predicate":"increases","statement":"Pathogenic CLDN19 variants were identified in families with renal magnesium loss and hypomagnesemia.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"c4563374-6b4b-582c-8deb-e09d8f534895","mechanism_event_label":"Claudin-19 failure can make the kidneys lose magnesium.","subject":{"id":"7c8c5ba1-6347-544d-abb0-6d89296838b4","slug":"cldn19-loss-of-function-genotype","display_name":"CLDN19 loss-of-function genotype","entity_type_key":"gene"},"object":{"id":"a298b414-0e07-568d-a469-d8aa3e8b8c14","slug":"urinary-magnesium-excretion","display_name":"Urinary magnesium excretion","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"c4563374-6b4b-582c-8deb-e09d8f534895","stable_key":"0f17db03-207f-5910-ac8e-13dfc2f378ce:human-cldn19-magnesium-wasting-event","event_type":"observed_intervention","label":"Claudin-19 failure can make the kidneys lose magnesium.","description":"Pathogenic CLDN19 variants were identified in families with renal magnesium loss and hypomagnesemia.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"2e41ca25-b273-5974-8e13-cfa2654da636","slug":"cldn19","display_name":"Claudin-19","entity_type_key":"protein"},"role":"affected-tight-junction-protein","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"bff427ab-35f9-59c2-bb24-fd5953bbaec2","slug":"magnesium-ion","display_name":"Mg2+","entity_type_key":"ion"},"role":"lost-ion","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"e359bc15-e675-5d83-b0fe-1d70814e130b","slug":"calcium-ion","display_name":"Calcium ion","entity_type_key":"ion"},"role":"coaffected-ion","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"7c8c5ba1-6347-544d-abb0-6d89296838b4","slug":"cldn19-loss-of-function-genotype","display_name":"CLDN19 loss-of-function genotype","entity_type_key":"gene"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"a298b414-0e07-568d-a469-d8aa3e8b8c14","slug":"urinary-magnesium-excretion","display_name":"Urinary magnesium excretion","entity_type_key":"cellular_process"},"role":"object","stoichiometry":null,"state_label":"","sequence_order":4,"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":"The disorder also includes abnormal calcium handling; shared renal machinery is implicated rather than competition for dietary absorption.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"curation_notes","value_text":"Existing catalog claim fb9278a2-5be5-5e4b-92f3-e02f00f3cfc7 covers the same families with urinary-calcium-excretion endpoint. This magnesium endpoint is deliberately separate.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"evidence-system","value_text":"Human family genetics with trafficking and assembly support","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human family genetics with trafficking and assembly support","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Associated retinal abnormalities are not assigned solely to low Mg.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Magnesium research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"magnesium","display_name":"Magnesium","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Claudin-19 failure can make the kidneys lose magnesium.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[konrad-2006-cldn19] Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement (2006). https://pubmed.ncbi.nlm.nih.gov/17033971/ DOI: 10.1086/508617","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue","value_text":"Renal tubules","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Renal tubules","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":"3a1dfc62-b866-5313-ac1b-2b953521dcb9","evidence_kind":"source_excerpt","locator":"Lines 1069-1082","start_line":1069,"end_line":1082,"excerpt":"### human-cldn19-magnesium-wasting\nPathogenic CLDN19 variants were identified in families with renal magnesium loss and hypomagnesemia.\nCondition category: machinery_impairment\nnutrient_topic: Magnesium research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Claudin-19 failure can make the kidneys lose magnesium.\norganism: Human\ntissue_or_cell_type: Renal tubules\nexperimental_model: Human family genetics with trafficking and assembly support\nlimitations: Associated retinal abnormalities are not assigned solely to low Mg.\ncross_nutrient: The disorder also includes abnormal calcium handling; shared renal machinery is implicated rather than competition for dietary absorption.\ncuration_notes: Existing catalog claim fb9278a2-5be5-5e4b-92f3-e02f00f3cfc7 covers the same families with urinary-calcium-excretion endpoint. This magnesium endpoint is deliberately separate.\nevidence-system: Human family genetics with trafficking and assembly support\ntissue: Renal tubules\n[konrad-2006-cldn19] Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement (2006). https://pubmed.ncbi.nlm.nih.gov/17033971/ DOI: 10.1086/508617","model_system":"Human family genetics with trafficking and assembly support","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [konrad-2006-cldn19] Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement (2006). https://pubmed.ncbi.nlm.nih.gov/17033971/ DOI: 10.1086/508617","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"dd101e28-1a2e-5a48-9d1e-809c77514866","stable_key":"import-0f17db03-207f-5910-ac8e-13dfc2f378ce","title":"Magnesium: cross-nutrient mechanisms and deficiency (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":"e111c412f57143a17e8e65e74e8f7888b5bb9a61099873f4767f527fac19bb07","revision_id":"6b7f04f2-66ed-5859-955f-c2b50d4bf041","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}