|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
|
15488219 |
2004 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
|
15488219 |
2004 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
|
14661163 |
2004 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
|
14661163 |
2004 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
|
15889350 |
2005 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
|
15889350 |
2005 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
|
15889350 |
2005 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
|
15889350 |
2005 |
|
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 |
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 |
Biomarker
|
disease |
MGD |
Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.
|
17318265 |
2007 |
|
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 |
Biomarker
|
disease |
CLINGEN |
Recently, the monocarboxylate transporter 8 (MCT8) was identified as a thyroid hormone transporter, and MCT8 mutations have been associated with Allan-Herndon-Dudley syndrome, an X linked condition characterized by severe mental retardation, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia.
|
17899191 |
2008 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We performed MCT8 mutation analysis including 13 XLMR families with LOD scores >2.0, 401 male MR sibships and 47 sporadic male patients with AHDS-like clinical features.
|
18398436 |
2008 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
|
18398436 |
2008 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We performed MCT8 mutation analysis including 13 XLMR families with LOD scores >2.0, 401 male MR sibships and 47 sporadic male patients with AHDS-like clinical features.
|
18398436 |
2008 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.
|
18636565 |
2009 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
|
19194886 |
2009 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
|
19194886 |
2009 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC16A2 gene have been implicated in Allan-Herndon-Dudley syndrome (AHDS), an X-linked learning disability* syndrome associated with thyroid function test (TFT) abnormalities.
|
19811520 |
2010 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical importance of TH transporters is dramatically shown in patients with mutations in MCT8, suffering from severe X-linked psychomotor retardation in combination with disturbed TH levels, especially high serum T(3) levels, now referred as Allan-Herndon-Dudley Syndrome (AHDS).
|
20083155 |
2010 |