KEGG DISEASE: Allan-Herndon-Dudley syndrome

DISEASE: Allan-Herndon-Dudley syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06322  TRH-TSH-TH signaling
   H00650  Allan-Herndon-Dudley syndrome

Network

nt06322 TRH-TSH-TH signaling

Gene

SLC16A2 [HSA:6567] [KO:K08231]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20713192

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

PMID:17574010

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

» Japanese version

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (7)   

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