KEGG   DISEASE: Allan-Herndon-Dudley syndromeHelp
Entry
H00650                      Disease                                

Name
Allan-Herndon-Dudley syndrome;
Monocarboxylate transporter 8 deficiency
Description
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 [BR:br08402]
 Endocrine and metabolic diseases
  Thyroid gland diseases
   H00650  Allan-Herndon-Dudley syndrome
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
BRITE hierarchy
Network
  Element
N00801  Mutation-inactivated SLC16A2 to thyroid hormone signaling pathway
Gene
SLC16A2 [HSA:6567] [KO:K08231]
Other DBs
ICD-11: 5A00.0Y
ICD-10: E03.8
MeSH: C537047
OMIM: 300523
Reference
  Authors
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.
  Journal
Eur J Med Genet 53:392-5 (2010)
DOI:10.1016/j.ejmg.2010.08.001
Reference
  Authors
Schwartz CE, Stevenson RE
  Title
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.
  Journal
Best Pract Res Clin Endocrinol Metab 21:307-21 (2007)
DOI:10.1016/j.beem.2007.03.009
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