Allan-Herndon-Dudley Syndrome

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.;

Details

Origin ID

C118843;

UMLS CUI

C0795889;

Automatic exact mappings (from CISMeF team)
- Allan-Herndon-Dudley syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Allan Herndon Dudley syndrome [Disease (Nov.)]
- Allan-Herndon-Dudley syndrome [MeSH concept]
- Allan-Herndon-Dudley syndrome [MeSH Supplementary Concept]
- Allan-Herndon-Dudley syndrome [DO Concept]
- Allan-Herndon-Dudley syndrome [ORDO Disease]
- Allan-Herndon-Dudley syndrome [ICD-11 More detail]
- Allan-herndon-dudley syndrome [OMIM Phenotype]
- Monocarboxylate transporter 8 deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Allan Herndon Dudley syndrome [Disease (Nov.)]
- Allan-Herndon-Dudley syndrome [ORDO Disease]
- Allan-Herndon-Dudley syndrome [DO Concept]
- Allan-Herndon-Dudley syndrome [MeSH Supplementary Concept]
- Allan-Herndon-Dudley syndrome [MeSH concept]
- Allan-Herndon-Dudley syndrome [ICD-11 More detail]
- Allan-Herndon-Dudley syndrome [MedDRA Preferred Term]
- Allan-herndon-dudley syndrome [OMIM Phenotype]
- Monocarboxylate transporter 8 deficiency (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC16A2 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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