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. [ ]

Synonyms: MCT8-Specific Thyroid Hormone Cell Membrane Transporter Deficiency Monocarboxylate Transporter 8 Deficiency Allan-Herndon-Dudley Syndrome

This is just here as a test because I lose it

Term information

Subsets

NCIT_C90259, NCIT_C118467

ALT DEFINITION

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.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C28193

NICHD Hierarchy Term

Monocarboxylate Transporter 8 Deficiency

Preferred Name

Allan-Herndon-Dudley Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0795889

code

C118843

Term relations