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 |