Allan-Herndon-Dudley syndrome (AHDS) is an X-linked mental retardation syndrome with neuromuscular involvement characterized by hypotonia, muscular hypoplasia and intellectual deficit. AHDS is caused by mutations in the SLC16A2 gene, encoding MCT8 which is a specific transporter for thyroid hormone T3.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the thyroid gland or thyroid hormones system
5A00 Hypothyroidism
H00650 Allan-Herndon-Dudley syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06322 TRH-TSH-TH signaling
H00650 Allan-Herndon-Dudley syndrome
Boccone L, Mariotti S, Dessi V, Pruna D, Meloni A, Loudianos G
Title
Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.