allan-herndon-dudley syndrome mct8
What is the incidence of MCT8-AHDS? A defect in this transporter causes Allan-Herndon-Dudley syndrome (AHDS), which characterized by severe motor and cognitive retardation. Mutations of the SLC16A2 (MCT8) [OMIM #300095] gene, have been identified in patients with Allan-Herndon- Allan-Herndon-Dudley syndrome is an X-linked condition resulting in clinical features in affected males. Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). For more information on the MCT8-AHDS Foundation visit the organisations Facebook page or get in touch with me at: veronica@mct8.info. By in vitro cellular studies, Jansen et al. or. understanding of the Allan-Herndon-Dudley syndrome (AHDS). Allan-Herndon-Dudley Syndrome.
The AllanHerndonDudley syndrome (AHDS) was described in 1944; in 1990, its mutational pathogenesis was mapped to the MCT8 gene . Patients with the AllanHerndonDudley syndrome present in infancy with hypotonia, weakness, and failure to gain weight. The gene is located in Xq13 and mutations in MCT8 are responsible for an X-linked condition, Allan-Herndon-Dudley syndrome (AHDS). Penetrance appears to be 100%. Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. Test methods: In the original family (K8005) with Allan-Herndon-Dudley syndrome (AHDS; 300523) reported by Allan et al. Description Collapse Section Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. Enter the email address you signed up with and we'll email you a reset link. AllanHerndonDudley syndrome is a rare X-linked inherited disorder of brain development that causes both moderate to severe intellectual disability and problems with speech and movement.. AllanHerndonDudley syndrome, which is named eponymously for William Allan, Florence C. Dudley, and C. Nash Herndon, results from a mutation of the thyroid hormone transporter MLA Citation "Allan-Herndon-Dudley Syndrome (AHDS)." Allan--Herndon--Dudley syndrome is an X-linked condition of mental retardation associated with severe mental retardation and mutations in MCT8. or reset password. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Allan-Herndon-Dudley syndrome (AHDS) is a severe X-linked intellectual and psychomotor disability disorder accompanied by abnormal thyroid hormone (TH) levels. This condition, which occurs exclusively in males, disrupts development from before birth. It has been shown mutated in cases of X-linked leukoencephalopathy. Find support organizations and financial resources for Allan-Herndon-Dudley syndrome. AHDS is incurable and so MCT8 Deficiency also known as Allan-Herndon-Dudley (AHDS) syndrome is a genetic X-linked disorder that predominantly affects boys, and in rarer cases, girls. To study the functional conse- MCT8 deficiency (that is also known as Allan-Herndon-Dudley syndrome) is a rare X-linked inherited disorder of brain development that causes severe intellectual disability and problems with movement. Allan-Herndon-Dudley syndrome is a rare X-linked neurologic condition caused by mutations in monocarboxylate transporter 8 (MCT8), which leads to 
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS). A number sign (#) is used with this entry because Allan-Herndon-Dudley syndrome (AHDS) is caused by mutation in the MCT8 gene (SLC16A2; 300095) on chromosome Xq13. SnyderRobinson syndrome (SRS, OMIM 309583) is a rare Xlinked syndrome characterized by mental retardation, marfanoid habitus, A woman who has more than one affected son is an obligate carrier. Allan-Herndon-Dudley syndrome. MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome (AHDS), is a genetic X-linked disorder that only affects boys. Background: The AHDS is characterized by unusual thyroid hormone concentrations and a mutation in the SLC16A2 gene encoding for the mono-carboxylate transporter 8 (MCT8). Author: Frints, Suzanna Gerarda Maria et al. Frints, S., Lenzner, S., Bauters, M. et al. This hormone, called triiodothyronine or T3, is produced by a butterfly MCT8 transports thyroid hormones (T3 and T4) from the blood into cells where the hormones can work. THCT deficiency is caused by a change (mutation) in the MCT8 Carpenter NJ, et al. Guidelines on Hereditary Leukodystrophies MCT8 deficiency (Allan-Herndon-Dudley syndrome) Disease description: MCT8-specific thyroid hormone cell-membrane transporter deficiency is a genetic disease characterized by severe intellectual disability, language disorder, hypotonia, and abnormal movements.MCT8 transports T3 in particular, and its dysfunction means that T3 is This condition, which occurs almost exclusively in males, disrupts development from before birth. Mutations in the SLC16A2 gene (also known as MCT8) cause AHDS. Many GARD web pages are still in development. Log in with Facebook Log in with Google. The Allan Herndon Dudley syndrome is a mutation in the SLC16A2 gene that changes the thyroid hormone transporter MCT8 and causes impaired iodothyronine uptake in muscle tissue and the central nervous system. This syndrome is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays. SLC16A2 encodes for the monocarboxylate transporter 8 (MCT8), a ubiquitous membrane transporter of thyroid hormones that is especially expressed in the liver, kidney, thyroid, and brain [].Clinical The syndrome occurs predominantly in males because of its X-linked nature and is characterized by severe intellectual disability and central muscle weakness. AHDS is caused by the defective gene SLC16A2 on the X-chromosome resulting in a deficiency of the thyroid hormone (TH) transporter, MCT8 (monocarboxylate transporter 8). MCT8 AHDS is a neurological condition that affects mobility, cognition and general health. Allan-Herndon-Dudley syndrome is a rare disease caused by inactivating mutations in the SLC16A2 gene, which encodes the monocarboxylate transporter 8 (MCT8), a transmembrane transporter specific for thyroid hormones (T3 and T4). Hypokinesia is common and severe, and it appeared to contribute much more to the overall functional disability burden of MCT8 patients. 2 talking about this. (MCT8) gene. The syndrome occurs predominantly in males because of its X-linked nature and is characterized by severe intellectual disability and central muscle weakness. Remember me on this computer. Some children with AHDS have difficulty with communication and speech. My experience at the EURORDIS Winter School on Scientific Innovation & Translational Research AllanHerndonDudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Password. Allan-Herndon-Dudley syndrome is inherited in an X-linked recessive pattern; however, cases with de novo SLC16A2 mutations have also been reported. MCT8 gene mutations cause
Can they speak? The MCT8-AHDS Foundation aims to raise interest among the research community in the hope of finding a cure for this ultra rare genetic syndrome, as well as offer support to patients and their families. Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome (AHDS), is a rare disease caused by inactivating mutations in the SLC16A2 gene that encodes monocarboxylate transporter 8 (MCT8) 1.MCT8 is a transmembrane transporter, specific for the thyroid hormones T3 and T4. (MCT8) have been found in each of the six families. Allan-Herndon-Dudley syndrome (redirected from MCT8 deficiency) Allan-Herndon-Dudley syndrome A severe form (OMIM:30052)3 of X-linked psychomotor retardation combined with thyroid hormone defects due to imparied hormone synthesis, transport and action. Detailed Description: This therapeutic trial will be conducted in patients with MCT8 deficiency (also called Allan-Herndon-Dudley Syndrome (AHDS)), which is due to mutations in monocarboxylate transporter (MCT)8. More than 100 different mutations in the MCT8 gene (SLC16A2, Solute carrier family 16 [monocarboxylic acid transporters], member 2) have been associated with AHDS. Mutations in the MCT8 gene are associated with Allan-Herndon-Dudley Syndrome (AHDS), consisting of severe psychomotor retardation and disturbed TH parameters. The MCT8-AHDS Foundation aims to raise interest among the research community in the hope of finding a cure for this ultra rare genetic syndrome, as well as offer support to patients and their families. Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, Mutations in MCT8 , a thyroid hormone transporter gene, results in high levels of serum free T 3 , rather low levels of serum T 4 , and a TSH concentration in the normal range. CiteSeerX - Scientific documents that cite the following paper: A screen for mutations in zebrafish that affect myelin gene expression in Schwann cells and oligodendrocytes. Allan-herndon-dudley Syndrome Is also known as x-linked intellectual disability-hypotonia syndrome, t3 resistance, allan-herndon syndrome, triiodothyronine resistance, monocarboxylate transporter 8 deficiency, mct8 deficiency, mental retardation and muscular atrophy, mental retardation, x-linked, with hypoto. To study the functional consequences of different MCT8 mutations in detail, we combined functional Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). allan-herndon-dudley syndrome (ahds), an x-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair before 8 years in girls and 9 years in boys.Objective and hypotheses: We aimed to evaluate the anthropometric measures, hormonal values of children with PA at time of diagnosis, distinguishing the patients with late onset congenital adrenal hyperplasia and to analyse the The MCT8 Research Foundation is dedicated to studying the rare disease called Allan Herndon Dudley Syndrome, caused by mutations in the MCT8 gene. The AllanHerndonDudley syndrome (AHDS) was described in 1944; in 1990, its mutational pathogenesis was mapped to the MCT8 gene . Join the RareConnect online community for Allan-Herndon-Dudley syndrome to connect with other people living with AHDS. MCT8 actively transports a variety of iodo-thyronines including the thyroid hormones T 3 and T 4. Six large families with the syndrome have been identied, and linkage studies have placed the gene locus in Xq13.2. Mutations in the MCT8 gene are associated with Allan-Herndon-Dudley Syndrome (AHDS), consisting of severe psychomotor retardation and disturbed TH parameters. Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. Mutations in the Allan-Herndon-Dudley syndrome A severe form (OMIM:30052)3 of X-linked psychomotor retardation combined with thyroid hormone defects due to (1944), Schwartz et al. J Child Neurol. MCT8 is the major transporter for T3 and T4 in the brain, whereas additional transporters exist Penetrance appears to be 100%. Disease definition An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. Can girls be affected by MCT8-AHDS? Lack of MCT8 function produces serious neurological disturbances, most likely due to impaired transport of thyroid The SLC16A2 gene, also known as MCT8, provides instructions for making a protein that plays a critical role in the development of the nervous system. AHDS is caused by inactivating mutations in the monocarboxylate transporter 8 (MCT8), a specific TH transporter widely expressed in the central nervous system. Mutations in the SLC16A2 gene cause Allan-Herndon-Dudley syndrome. What is the exact mutation? The monocarboxylate transporter 8 (MCT8) is an important and widely expressed transporter of several thyronines. Drug: Triac. Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. The transporter monocarboxlate transporter 8 (MCT8), located at various organs including brain neurons, is crucial for cellular transport of TH, mainly T3 . Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. Due to the mutation, those affected suffer from muscle weakness as well as mobile and mental development delays. ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Molecular Pathogenesis Monocarboxylate transporter 8 (MCT8), the protein product of SLC16A2, is thought to play a crucial role in neuronal T3uptake and in endothelial cells allowing partial entry of thyroid hormone through the blood-brain barrier. MCT8 mutation analysis and identification of the first female with AllanHerndonDudley syndrome due to loss of MCT8 expression. Movement disorders are frequent in patients with MCT8 deficiency. Email. Mutations in the MCT8 gene are associated with Allan-Herndon-Dudley Syndrome (AHDS), consisting of severe psychomotor retardation and disturbed TH parameters. In previous studies (Triac Trial I and a long-term real-life study) Emcitate has shown highly significant and clinically relevant results on serum T3 levels and Abstract. Recent discoveries may lead to treatments for patients with Allan-Herndon-Dudley syndrome (AHDS), a brain development disorder that causes severe intellectual disability and problems with movement. Hide Studies Not Open or Pending. This short info-graphic explains what happens in Allan-Herndon-Dudley syndrome and how are children affected by this ultra rare disease. Another family with SnyderRobinson syndrome in two Mexican brothers is described and a novel mutation in the exon 5 of the SMS gene confirming its involvement in this rare Xlinked mental retardation syndrome is described.
The gene is located in Xq13 and mutations in MCT8 are responsible for an X-linked condition, AllanHerndonDudley syndrome (AHDS). The monocarboxylate transporter 8 (MCT8) is an important and widely expressed transporter of several thyronines. Condition(s): Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Mutations in MCT8, a thyroid hormone transporter gene, results in high levels of serum free T 3, rather low levels of serum T 4, and a TSH concentration in the normal range. Facial manifestations are not distinctive, but the face tends to be elongated with bifrontal narrowing, and the ears are often simply formed or cupped. (2005) identified a 1703T-C transition in exon 6 of the MCT8 gene that resulted in a leu568-to-pro (L568P) substitution. Mutations in the monocarboxylate transporter 8 This condition, which occurs exclusively in males, disrupts development from before birth. However, although these biochemical findings are Allan-Herndon-Dudley Syndrome This condition only affects males, disrupting their development from before birth. The American Journal of , 2005. MCT8 is a thyroid hormone transporter which is crucial for the transport of thyroid hormone from the blood into different tissues. This therapeutic trial will be conducted in patients with MCT8 deficiency (also called Allan-Herndon-Dudley Syndrome (AHDS)), which is due to mutations in monocarboxylate transporter (MCT)8. Some patients have myopathic facies. It is characterized by a complex neurological presentation, signs of peripheral thyrotoxicosis and cerebral hypothyroidism. Allan-Herndon-Dudley Syndrome or MCT8 deficiency (AHDS/ MCT8) is a rare X-linked neurodevelopmental disorder due to an impairment of the normal transport of thyroid hormones across cell membranes, particularly across They have global developmental delays in childhood, and they display spasticity and hyperreflexia as adults. Advancement in treatment research Treatment options currently explored the focus on finding thyroid hormone-like compounds that bypass MCT8 and enter cells through different transporters.
