SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
Disease: Thyrotoxicosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.020 Biomarker disease BEFREE Triac seems a reasonable treatment strategy to ameliorate the consequences of untreated peripheral thyrotoxicosis in patients with MCT8 deficiency. 31377265 2019
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.020 Biomarker disease BEFREE Mutations in the thyroid hormone transporter SLC16A2 (MCT8) cause the Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and peripheral thyrotoxicosis. 27805744 2017