MeSH Browser

MeSH Supplementary: Allan-Herndon-Dudley syndrome
Unique ID: C537047
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537047
Entry Term(s): Allan-Herndon syndrome; Mct8 (Slc16a2)-Specific Thyroid Hormone Cell Transporter Deficiency; Mental Retardation, X-Linked, With Hypotonia; Mental retardation and muscular atrophy; Monocarboxylate Transporter 8 (Mct8) Deficiency; Monocarboxylate Transporter 8 Deficiency; Monocarboxylate transporter-8 deficiency; T3 Resistance; Triiodothyronine Resistance; X-linked mental retardation with hypotonia
Registry Number: 0
Heading Mapped to: *Muscle Hypotonia; *Muscular Atrophy; *Mental Retardation, X-Linked
Frequency: 84
Note: A rare, congenital X-linked dominant disorder characterized by INTELLECTUAL DISABILITY; COMMUNICATION DISORDERS; MUSCLE SPASTICITY; CONTRACTURES, hypotonia and loss of mobility. Various other anatomical and neurological abnormalities may also be present, as well as abnormal serum thyroid hormone levels. Mutations in the SLC16A2 gene have been identified. OMIM: 300523
Date of Entry: 2010/06/25
Revision Date: 2015/08/17

Allan-Herndon-Dudley syndrome MeSH Supplementary Concept Data 2024