KEGG   NETWORK: N00792
Entry
N00792                      Network                                

Name
Mutation-inactivated IYD to deiodination of MIT and DIT
Definition
(MIT,DIT) -- IYD* // Iodide
  Expanded
(C02515,C01060) -- 389434v1 // C00708
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Disease
H00251  Thyroid dyshormonogenesis
Gene
389434  IYD; iodotyrosine deiodinase
Variant
389434v1 (IYD*)  IYD mutation
Metabolite
C02515  3-Iodo-L-tyrosine
C01060  3,5-Diiodo-L-tyrosine
C00708  Iodide
Reference
  Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
  Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
  Journal
Eur J Endocrinol 179:R297-R317 (2018)
DOI:10.1530/EJE-18-0383
Reference
  Authors
Grasberger H, Refetoff S
  Title
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
  Journal
Curr Opin Pediatr 23:421-8 (2011)
DOI:10.1097/MOP.0b013e32834726a4
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