{"id":"cf0c8eb3-95bf-5e63-acdb-46209a31116b","stable_key":"0f17db03-207f-5910-ac8e-13dfc2f378ce:egf-variant-human-magnesium-wasting","predicate":"associates-with","statement":"Two homozygous EGF P1070L sisters had low serum magnesium with inappropriately sustained urinary Mg loss.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"0112be62-709a-5323-93c1-df8441a43f63","mechanism_event_label":"The inherited EGF defect was linked to failure of the kidneys to conserve magnesium.","subject":{"id":"c70b8c9d-69bd-5a7d-b6ee-cba3df2f6174","slug":"pro-egf-p1070l","display_name":"Pro-EGF P1070L","entity_type_key":"protein_state"},"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":"0112be62-709a-5323-93c1-df8441a43f63","stable_key":"0f17db03-207f-5910-ac8e-13dfc2f378ce:egf-variant-human-magnesium-wasting-event","event_type":"observed_intervention","label":"The inherited EGF defect was linked to failure of the kidneys to conserve magnesium.","description":"Two homozygous EGF P1070L sisters had low serum magnesium with inappropriately sustained urinary Mg loss.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"623a99ab-787c-5d78-8072-72cfcd82008e","slug":"serum-magnesium-concentration","display_name":"Serum magnesium concentration","entity_type_key":"cellular_process"},"role":"reduced-endpoint","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"877a2fb0-067c-51ca-afea-f63ff16affc8","slug":"trpm6","display_name":"TRPM6","entity_type_key":"protein"},"role":"proposed-downstream-channel","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"c70b8c9d-69bd-5a7d-b6ee-cba3df2f6174","slug":"pro-egf-p1070l","display_name":"Pro-EGF P1070L","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"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":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence-system","value_text":"Human pedigree and serum/urine phenotyping","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human pedigree and serum/urine phenotyping","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Small kindred; cellular sorting experiments support the explanation rather than directly measuring the entire cascade in vivo.","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":"The inherited EGF defect was linked to failure of the kidneys to conserve magnesium.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[groenestege-2007-egf] Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia (2007). https://www.jci.org/articles/view/31680 DOI: 10.1172/JCI31680","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue","value_text":"Kidney; 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cellular sorting experiments support the explanation rather than directly measuring the entire cascade in vivo.\nevidence-system: Human pedigree and serum/urine phenotyping\ntissue: Kidney; serum and urine\n[groenestege-2007-egf] Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia (2007). https://www.jci.org/articles/view/31680 DOI: 10.1172/JCI31680","model_system":"Human pedigree and serum/urine phenotyping","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. 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