{"id":"e1fc2eed-9d8c-521e-983a-d6ff27af799d","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-trans-a7-truncation-ch","predicate":"associated_with","statement":"Homozygous truncating SLC26A7 variants segregated with goitrous congenital hypothyroidism in six unrelated families studied by Cangul et al.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"0c33e6f1-c467-5b84-8ac3-5eddc789b2d9","mechanism_event_label":"Inherited SLC26A7 defects can disrupt thyroid hormone production.","subject":{"id":"3309795a-63a1-51a3-ac94-59d5f671c2d3","slug":"human-slc26a7-truncating-variants","display_name":"Human SLC26A7 truncating pathogenic variants","entity_type_key":"protein_set"},"object":{"id":"acc236e5-b3d5-5b3e-bd61-289306b7e1f7","slug":"goitrous-congenital-hypothyroidism","display_name":"Goitrous congenital hypothyroidism","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"0c33e6f1-c467-5b84-8ac3-5eddc789b2d9","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-trans-a7-truncation-ch-event","event_type":"observed_intervention","label":"Inherited SLC26A7 defects can disrupt thyroid hormone production.","description":"Homozygous truncating SLC26A7 variants segregated with goitrous congenital hypothyroidism in six unrelated families studied by Cangul et al.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"6ae2ac42-e051-59b1-aabb-f8263f987ea4","slug":"slc26a7","display_name":"Human SLC26A7 anion transporter","entity_type_key":"protein"},"role":"wild_type_reference","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"83b11ca6-52c7-5a1b-8c39-d9cdf89244e3","slug":"iodide","display_name":"Iodide ion","entity_type_key":"ion"},"role":"thyroid_substrate","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"3309795a-63a1-51a3-ac94-59d5f671c2d3","slug":"human-slc26a7-truncating-variants","display_name":"Human SLC26A7 truncating pathogenic variants","entity_type_key":"protein_set"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"acc236e5-b3d5-5b3e-bd61-289306b7e1f7","slug":"goitrous-congenital-hypothyroidism","display_name":"Goitrous congenital hypothyroidism","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":"cross_nutrient","value_text":"false","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Six human families, human SLC26A7/NIS-transfected HEK293 cells, Slc26a7-null mice","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Six families with 13 affected individuals; molecular genetic characterization.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Genetic association establishes a machinery disorder, not low dietary iodine; precise physiological transport mechanism remained unresolved.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Iodine research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"iodine","display_name":"Iodine","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Inherited SLC26A7 defects can disrupt thyroid hormone production.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[iodine-trans-slc26a7-2018] Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. (2018). https://pubmed.ncbi.nlm.nih.gov/30333321/ DOI: 10.1172/jci.insight.99631","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Thyroid and whole-person clinical 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":"3ef66ebd-95d5-5646-9050-b8f72f331c3c","evidence_kind":"source_excerpt","locator":"Lines 388-399","start_line":388,"end_line":399,"excerpt":"### iodine-trans-a7-truncation-ch\nHomozygous truncating SLC26A7 variants segregated with goitrous congenital hypothyroidism in six unrelated families studied by Cangul et al.\nCondition category: machinery_impairment\nnutrient_topic: Iodine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Inherited SLC26A7 defects can disrupt thyroid hormone production.\norganism: Homo sapiens\ntissue_or_cell_type: Thyroid and whole-person clinical phenotype\nexperimental_model: Six human families, human SLC26A7/NIS-transfected HEK293 cells, Slc26a7-null mice\nlimitations: Genetic association establishes a machinery disorder, not low dietary iodine; precise physiological transport mechanism remained unresolved.\nexposure: Six families with 13 affected individuals; molecular genetic characterization.\ncross_nutrient: false\n[iodine-trans-slc26a7-2018] Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. (2018). https://pubmed.ncbi.nlm.nih.gov/30333321/ DOI: 10.1172/jci.insight.99631","model_system":"Six human families, human SLC26A7/NIS-transfected HEK293 cells, Slc26a7-null mice","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [iodine-trans-slc26a7-2018] Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. (2018). https://pubmed.ncbi.nlm.nih.gov/30333321/ DOI: 10.1172/jci.insight.99631","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"76da623d-a34a-5a5c-a942-d7571a85c486","stable_key":"import-aaa7baba-8689-56ab-ba1e-b71542bcb8e9","title":"Iodine: thyroid hormone production, deficiency, excess 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. Not publisher full text.","file_path":"","sha256":"a4885eb6f58bad4a4514c958b63834619e57b10aa7f694aa97d0f65c7d36548f","revision_id":"ea8001a1-b576-5eda-a193-883c7ad59b73","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}