" /> Allan-Herndon-Dudley Syndrome - CISMeF





Preferred Label : Allan-Herndon-Dudley Syndrome;

NCIt related terms : MCT8-Specific Thyroid Hormone Cell Membrane Transporter Deficiency; Monocarboxylate Transporter 8 Deficiency;

NCIt definition : A rare, X-linked recessive inherited syndrome caused by mutations in the SLC16A2 (MCT8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity.;

Alternative definition : NICHD: An X-Linked condition caused by mutation(s) in the SLC16A2 gene, characterized by elevated triiodothyronine (T3) and decreased reverse T3 concentrations due to inability to transport T3 across cell membranes. Clinical manifestations include severe cognitive deficits, hypotonia, and muscular hypoplasia.;

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08/05/2025


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