SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
Disease: Severe psychomotor retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE Mutations in MCT8 lead to Allan-Herndon-Dudley syndrome (AHDS), which is characterized by severe psychomotor retardation and abnormal thyroid hormone profile. 30369548 2019
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE Monocarboxylate transporter 8 is a specific thyroid hormone transporter found mutated in patients with severe psychomotor retardation and strangely abnormal thyroid hormone constellations. 29407435 2018
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 Biomarker phenotype BEFREE Inactivating mutations in the thyroid hormone (TH) transporter Monocarboxylate transporter 8 (MCT8) cause severe psychomotor retardation in children. 28526555 2017
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 Biomarker phenotype 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
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 Biomarker phenotype BEFREE Mutations in the thyroid hormone (TH) transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and altered TH serum levels. 26426690 2015
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE Mutations in MCT8 are associated with the Allan-Herndon-Dudley syndrome (AHDS), characterized by severe psychomotor retardation and altered serum thyroid parameters. 25247785 2014
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE Mutations in the MCT8 gene are associated with Allan-Herndon-Dudley Syndrome (AHDS), consisting of severe psychomotor retardation and disturbed TH parameters. 23550058 2013
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE Hemizygous MCT8 mutations in males cause severe psychomotor retardation, known as the Allan-Herndon-Dudley syndrome (AHDS), and abnormal serum TH levels. 23392090 2013
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE Mutations in MCT8 are associated with severe psychomotor retardation, high serum T3 and low 3,3',5'-triiodothyronine (rT3) levels. 18636565 2009
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE The pathophysiological importance of thyroid hormone transporters has been established by the demonstration of MCT8 mutations in patients with severe psychomotor retardation and elevated serum T(3) levels. 19179441 2009
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE Mutations of the monocarboxylate transporter 8 (MCT8) gene determine a distinct X-linked phenotype of severe psychomotor retardation and consistently elevated T(3) levels. 18334584 2008
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 AlteredExpression phenotype BEFREE Mutations in MCT8 are associated with elevated serum T(3) levels and severe psychomotor retardation, indicating a pivotal role for MCT8 in brain development. 18291666 2008
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 AlteredExpression phenotype BEFREE These findings support the hypothesis that the severe psychomotor retardation and elevated serum T(3) levels in these patients are caused by inactivation of the MCT8 transporter, preventing action and metabolism of T(3) in central neurons. 17356046 2007
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE MCT8 mutations in humans are associated with severe psychomotor retardation and elevated 3,3',5-triiodothyronine (T(3)) levels. 17574005 2007
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE Mutations in MCT8 have been identified in boys with severe psychomotor retardation who also have very high serum T(3) levels. 18174701 2007
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE Mutational analysis of the MCT8 gene revealed mutations or deletions in the MCT8 gene in unrelated male patients with severe psychomotor retardation and biochemical findings consistent with thyroid hormone resistance. 17684393 2007
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.100 GeneticVariation phenotype BEFREE We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine (T3) concentrations in five unrelated young boys. 15488219 2004