|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The gene is located in Xq13 and mutations in MCT8 are responsible for an X-linked condition, Allan-Herndon-Dudley syndrome (AHDS).
|
17574010 |
2007 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel MCT8 mutation (S290F) in 4 generations of a family with Allan-Herndon-Dudley Syndrome.
|
26426690 |
2015 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
On the background of previously published patients we describe a proband initially considered as presenting with a severe PMD, whose diagnosis of AHDS due to a novel nonsense SLC16A2 mutation unraveled two previously undiagnosed generations of affected males who died in infancy from unexplained reasons.
|
27234264 |
2016 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TH transporter, monocarboxylate transporter 8 (MCT8), are associated with AHDS.
|
23161551 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked disorder caused by mutation in the gene encoding the monocarboxylate transporter-8.
|
18589880 |
2008 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
A partial deletion of the MCT8 gene (comprising five of six exons) was detected, confirming the suspected AHDS.
|
21896621 |
2011 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MCT8 gene coding for the monocarboxylate thyroid hormone transporter 8 have been associated with AHDS.
|
23419639 |
2013 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.
|
19641107 |
2009 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MCT8 result in the Allan-Herndon-Dudley syndrome, comprising severe psychomotor retardation and elevated serum T3 levels.
|
25389909 |
2014 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
BEFREE |
A three-and-a-half-year-old male with clinical and biochemical AHDS phenotype and a history of normal neonatal screening for hypothyroidism underwent SLC16A2 molecular analysis.
|
25517855 |
2015 |
|
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 |
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.
|
15980113 |
2006 |
|
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 |
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 |
Molecular analysis of the MCT8 gene detected a single base duplication in exon 5 c.1614dupC (p.Ile539fs), consistent with a diagnosis of AHDS.
|
19936787 |
2010 |
|
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 |
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 |
The importance was better documented by the phenotype observed in patients harboring mutations of the monocarboxylate transporter 8 (MCT8) gene immediately linked to Allan-Herndon-Dudley syndrome, in which severe neurological findings are associated with abnormal TH levels.
|
25231447 |
2014 |
|
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 |
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 |