Allan-herndon-dudley syndrome

Preferred Label : Allan-herndon-dudley syndrome;

Symbol : AHDS;

CISMeF acronym : AHDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, with hypotonia; Allan-herndon syndrome; Mental retardation and muscular atrophy; Monocarboxylate transporter 8 deficiency; Triiodothyronine resistance; T3 resistance;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the monocarboxylate transporter 8 gene (MCT8, 300095.0001);

Laboratory abnormalities : Normal or mildly increased thyroid-stimulating hormone (TSH); Decreased serum free thyroxine; Increased serum triiodothyronine (T3); Decreased serum thyroxine (T4); Decreased serum rT3;

Prefixed ID : #300523;

Details

Origin ID

300523;

UMLS CUI

C0795889;

Automatic exact mappings (from CISMeF team)
- Allan-Herndon-Dudley syndrome [MedDRA Preferred Term]
- JAG1 wt Allele [NCIt concept]
- SLC16A2 wt Allele [NCIt concept]
- symbol withdrawn AHDS [HGNC gene]
Currated CISMeF NLP mapping
- Allan Herndon Dudley syndrome [Disease (Nov.)]
- Allan-Herndon-Dudley Syndrome [NCIt concept]
- Allan-Herndon-Dudley syndrome [DO Concept]
- Allan-Herndon-Dudley syndrome [ICD-11 More detail]
- Allan-Herndon-Dudley syndrome [MeSH concept]
- Allan-Herndon-Dudley syndrome [MeSH Supplementary Concept]
- Allan-Herndon-Dudley syndrome [ORDO Disease]
- Monocarboxylate transporter 8 deficiency (disorder) [SNOMED CT concept]
DO Cross reference
- Allan-Herndon-Dudley syndrome [DO Concept]
Genes related to phenotype
- Solute carrier family 16 (monocarboxylic acid transporter), member 2 [OMIM gene]
HPO term(s)
- Abnormal conjugate eye movement [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Babinski sign [HPO term]
- Bitemporal narrowing [HPO term]
- Clonus [HPO term]
- Congenital onset [HPO term]
- Delayed CNS myelination [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flexion contracture [HPO term]
- Generalized amyotrophy [HPO term]
- Hallux valgus [HPO term]
- Hyperreflexia [HPO term]
- Hypothyroidism [HPO term]
- Inability to walk [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Irritability [HPO term]
- Leukodystrophy [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Poorly formed pinnae [HPO term]
- Prominent antihelix [HPO term]
- Rotary nystagmus [HPO term]
- Scoliosis [HPO term]
- Severe global developmental delay [HPO term]
- Spastic paraplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Stahl ear [HPO term]
- Underfolded superior helices [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Allan-Herndon-Dudley syndrome [ORDO Disease]
- Pelizaeus-Merzbacher-like disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Allan Herndon Dudley syndrome [Disease (Nov.)]
- Allan-Herndon-Dudley Syndrome [NCIt concept]
- Allan-Herndon-Dudley syndrome [MeSH Supplementary Concept]
- Allan-Herndon-Dudley syndrome [MeSH concept]
- Allan-Herndon-Dudley syndrome [ORDO Disease]
- Allan-Herndon-Dudley syndrome [DO Concept]
- Allan-Herndon-Dudley syndrome [ICD-11 More detail]
- Allan-Herndon-Dudley syndrome [MedDRA Preferred Term]
- Monocarboxylate transporter 8 deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients