MCID: MCT002
MIFTS: 21

Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Categories: Endocrine diseases

Aliases & Classifications for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

MalaCards integrated aliases for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency:

Name: Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 24
Allan-Herndon-Dudley Syndrome 24 71

Characteristics:

GeneReviews:

24
Penetrance No unaffected males with slc16a2 pathogenic variants have been reported; thus, penetrance appears to be 100%....

Classifications:



External Ids:

UMLS 71 C0795889

Summaries for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

MalaCards based summary : Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency, also known as allan-herndon-dudley syndrome, is related to allan-herndon-dudley syndrome and pelizaeus-merzbacher-like disease, and has symptoms including clonus and ataxia. The drugs Pseudoephedrine and Ephedrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and pituitary.

GeneReviews: NBK26373

Related Diseases for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

Diseases related to Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 allan-herndon-dudley syndrome 13.5
2 pelizaeus-merzbacher-like disease 11.8
3 hypotonia 11.1
4 paraplegia 11.0
5 alacrima, achalasia, and mental retardation syndrome 11.0
6 spasticity 10.9
7 dystonia 10.9
8 scoliosis 10.8
9 hypothyroidism 10.8
10 hereditary spastic paraplegia 10.8
11 hypertonia 10.8
12 monocular esotropia 10.7
13 muscular atrophy 10.7
14 pathologic nystagmus 10.7
15 esotropia 10.7
16 dystonia 12 10.5
17 pectus excavatum 10.5
18 strabismus 10.5
19 graves disease 1 10.5
20 mental retardation, x-linked, syndromic, claes-jensen type 10.5
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
22 aspiration pneumonia 10.5
23 sensorineural hearing loss 10.5
24 leukodystrophy 10.5
25 microphthalmia 10.5
26 microcephaly 10.5
27 cerebral palsy 10.5
28 placental choriocarcinoma 10.5
29 choriocarcinoma 10.5
30 movement disease 10.5
31 hyperthyroidism 10.5
32 mechanical strabismus 10.5

Graphical network of the top 20 diseases related to Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency:



Diseases related to Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Symptoms & Phenotypes for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

UMLS symptoms related to Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency:


clonus, ataxia

Drugs & Therapeutics for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

Drugs for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pseudoephedrine Approved Phase 2 90-82-4 7028
2
Ephedrine Approved Phase 2 299-42-3 9294
3
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
4
Chlorpheniramine Approved Phase 2 113-92-8, 132-22-9 2725
5 Hormone Antagonists Phase 2
6 Neurotransmitter Agents Phase 2
7 Sympathomimetics Phase 2
8 Adrenergic Agonists Phase 2
9 Respiratory System Agents Phase 2
10 Anti-Obesity Agents Phase 2
11 Vasoconstrictor Agents Phase 2
12 Nasal Decongestants Phase 2
13 Hormones Phase 2
14 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
15 Appetite Depressants Phase 2
16 Autonomic Agents Phase 2
17 Expectorants Phase 2
18 Adrenergic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thyroid Hormone Analog Therapy of Patients With Severe Psychomotor Retardation Caused by Mutations in the MCT8 Thyroid Hormone Transporter: The Triac Trial. Completed NCT02060474 Phase 2 Triac
2 Effects of the Thyroid Hormone Analog Triac on the Neurocognitive Phenotype in Patients With Severe Psychomotor Retardation Caused by Mutations in the MCT8 Thyroid Hormone Transporter: The Triac Trial II Not yet recruiting NCT02396459 Phase 2 Triac
3 Rescue of Infants With Mct8 Deficiency Under Emergency Use Single Patient Expanded Access Treatment Available NCT04143295 Diiodothyropropionic acid

Search NIH Clinical Center for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Genetic Tests for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

Anatomical Context for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

MalaCards organs/tissues related to Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency:

40
Thyroid, Brain, Pituitary, Cortex, Skeletal Muscle, Hypothalamus

Publications for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

Articles related to Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care. 61 24
21098685 2011
2
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. 61 24
19811520 2010
3
Molecular aspects of thyroid hormone transporters, including MCT8, MCT10, and OATPs, and the effects of genetic variation in these transporters. 61 24
19541799 2010
4
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. 61 24
19018842 2009
5
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. 61 24
18398436 2008
6
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. 61 24
17574010 2007
7
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. 61 24
15980113 2006
8
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 61 24
15889350 2005
9
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. 24
22805248 2013
10
Tetrac can replace thyroid hormone during brain development in mouse mutants deficient in the thyroid hormone transporter mct8. 24
23307789 2013
11
Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation. 24
22924588 2013
12
Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. 24
22993035 2012
13
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. 24
21415082 2011
14
A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. 24
19497976 2009
15
Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. 24
19147674 2009
16
Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia). 24
18710470 2009
17
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. 24
18636565 2009
18
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. 24
19194886 2009
19
Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier. 24
18687783 2008
20
Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8. 24
18334584 2008
21
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. 24
18187543 2008
22
1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency. 24
18319316 2008
23
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. 24
17574009 2007
24
Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. 24
16974106 2007
25
Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. 24
16957765 2006
26
A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid. 24
16227048 2005
27
X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. 24
16417886 2005
28
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. 24
15834651 2005
29
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 24
14661163 2004
30
Neural Alterations and Hyperactivity of the Hypothalamic-Pituitary-Thyroid Axis in Oatp1c1 Deficiency. 61
31797746 2020
31
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency. 61
31332729 2019
32
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. 61
31410843 2019
33
Identification of inhibitors based on molecular docking: Thyroid hormone transporter MCT8 as a target. 61
31774046 2019
34
What human blood-brain barrier models can tell us about BBB function and drug discovery? 61
31385723 2019
35
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial. 61
31377265 2019
36
Triac in the treatment of Allan-Herndon-Dudley syndrome. 61
31377264 2019
37
Modeling the Biochemical Phenotype of MCT8 Mutations In Vitro: Resolving a Troubling Inconsistency. 61
31127274 2019
38
Oligodendroglial Lineage Cells in Thyroid Hormone-Deprived Conditions. 61
31182964 2019
39
Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients. 61
30369548 2019
40
[A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation]. 61
30392207 2018
41
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration. 61
30296914 2018
42
Molecular docking studies of human MCT8 protein with soy isoflavones in Allan-Herndon-Dudley syndrome (AHDS). 61
30345146 2018
43
From zebrafish to human: A comparative approach to elucidate the role of the thyroid hormone transporter MCT8 during brain development. 61
29183795 2018
44
[Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome]. 61
30098239 2018
45
Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome. 61
28862359 2018
46
Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome. 61
29714107 2018
47
Thyroid Hormone Transporters MCT8 and OATP1C1 Control Skeletal Muscle Regeneration. 61
29706500 2018
48
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes. 61
30497070 2018
49
Zebrafish - An emerging model to explore thyroid hormone transporters and psychomotor retardation. 61
28274736 2017
50
Transcriptomics reveal an integrative role for maternal thyroid hormones during zebrafish embryogenesis. 61
29192226 2017

Variations for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

Expression for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

Search GEO for disease gene expression data for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency.

Pathways for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

GO Terms for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

Sources for Mct8-Specific Thyroid Hormone Cell-Membrane Transporter...

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72 UMLS via Orphanet
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