SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease BEFREE Mutations in the TH transporters monocarboxylate transporter 8 (MCT8, SLC16A2) and the organic anion-transporting polypeptide 1C1 (OATP1C1, SLCO1C1) are associated with the psychomotor retardation Allan-Herndon-Dudley syndrome (AHDS) and juvenile neurodegeneration, respectively. 31797746 2020
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. 31410843 2019
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease BEFREE Mutations in the thyroid hormone transporter MCT8 cause severe intellectual and motor disability and abnormal serum thyroid function tests, a syndrome known as MCT8 deficiency (or: Allan-Herndon-Dudley syndrome, AHDS). 31332729 2019
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease 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
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE Dysfunction of the MCT8 due to mutation, inhibition, or downregulation during brain development leads to inherited hypomyelination, which manifests as psychomotor retardation in the X-linked inherited Allan-Herndon-Dudley syndrome (AHDS). 31182964 2019
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE Allan-Herndon-Dudley syndrome (AHDS) is a severe genetic disease caused by mutations in the monocarboxylate transporter 8 (MCT8) gene. 31127274 2019
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease BEFREE Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor disability and high serum tri-iodothyronine (T<sub>3</sub>) concentrations (Allan-Herndon-Dudley syndrome). 31377265 2019
Allan-Herndon-Dudley syndrome (AHDS)
1.000 AlteredExpression disease BEFREE Studies in the recently generated mct8-deficient zebrafish and Mct8/Oatp1c1 double knockout mice have put forward the current paradigm of impaired TH uptake at the level of the blood-brain barrier during peri- and postnatal development as being the main pathophysiological mechanism of AHDS. 29183795 2018
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease BEFREE Therefore, genetic testing of the candidate genes THRB and SLC16A2 should be performed for diagnosis of RTH and AHDS in patients with the suggestive clinical phenotype. 30497070 2018
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE We describe 4 male siblings affected with Allan-Herndon-Dudley syndrome with a novel nonsense mutation (Q90X) in the MCT8 protein. 29714107 2018
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE In humans, inactivating mutations in the TH transporter MCT8 cause the Allan-Herndon-Dudley syndrome, characterized by severe neuromuscular symptoms and an abnormal TH serum profile, which is fully replicated in Mct8 knockout mice and Mct8/Oatp1c1 double-knockout (M/O DKO) mice. 29706500 2018
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease BEFREE Loss of MCT8 function causes Allan-Herndon-Dudley syndrome (AHDS, OMIM 300523) characterized by severe intellectual and motor disability due to cerebral hypothyroidism. 30296914 2018
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE Male subjects with hemizygous mutations in MCT8 are afflicted with severe intellectual and motor disability, also known as the Allan-Herndon-Dudley syndrome (AHDS), which goes together with low serum T4 and high T3 levels. 28648511 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease BEFREE Our results highlight the potential role of MCT8 in TH transport for human OL development and may implicate DITPA as a promising treatment for developmentally-regulated myelination in AHDS. 29111262 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease CLINGEN In humans, deficiency of the monocarboxylate transporter 8 (MCT8), involved in cellular uptake of THs before their action, results in severe neurological abnormalities, known as the Allan-Herndon-Dudley syndrome. 29109240 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease BEFREE In humans, deficiency of the monocarboxylate transporter 8 (MCT8), involved in cellular uptake of THs before their action, results in severe neurological abnormalities, known as the Allan-Herndon-Dudley syndrome. 29109240 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. 28742507 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE Mutations in MCT8 result in severe intellectual and motor disability known as the Allan-Herndon-Dudley syndrome (AHDS). 28977587 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease BEFREE Given that the observed MCT8 zebrafish knockdown phenotype resembles the symptoms in human patients with Allan-Herndon-Dudley syndrome our data open a window into understanding the genetics of this human congenital condition. 29192226 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE The critical role of THTTs in regulating metabolism and brain function is demonstrated in the Allan-Herndon-Dudley syndrome (AHDS), an X-linked psychomotor retardation associated with mutations in the MCT8/SLC16A2 gene. 28274736 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome. 27977298 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease CLINGEN Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier. 28526555 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 Biomarker disease BEFREE In conclusion, early MCT8 deficiency in Purkinje cells results in both cell-autonomous and non-autonomous effects on cerebellar development and indicates that MCT8 expression is essential from very early stages of development, providing a novel insight into the ontogenesis of the Allan-Herndon-Dudley syndrome. 27879339 2017
Allan-Herndon-Dudley syndrome (AHDS)
1.000 GeneticVariation disease BEFREE Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017