KEGG   DISEASE: Thyroid dyshormonogenesis
Entry
H00251                      Disease                                

Name
Thyroid dyshormonogenesis;
Dyshormogenetic goiter
Description
Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects in the synthesis of thyroid hormones.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Thyroid gland diseases
   H00251  Thyroid dyshormonogenesis
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
     H00251  Thyroid dyshormonogenesis
Pathway
hsa00350  Tyrosine metabolism
hsa04918  Thyroid hormone synthesis
Network
  Element
N00787  Mutation-inactivated NIS to transport of iodide
N00788  Mutation-inactivated PDS to transport of iodide
N00789  Mutation-inactivated TPO to iodide organification/coupling reactions
N00790  Mutation-inactivated TG to iodide organification/coupling reactions
N00792  Mutation-inactivated IYD to deiodination of MIT and DIT
N00794  Mutation-inactivated DUOX2 to TSH-DUOX2-TG signaling pathway
N00796  Mutation-inactivated DUOXA2 to DUOX2-generated H2O2 production
Gene
(Type 1) SLC5A5 [HSA:6528] [KO:K14385]
(Type 2A) TPO [HSA:7173] [KO:K00431]
(Type 2B) SLC26A4 [HSA:5172] [KO:K14702]
(Type 2B) FOXI1 [HSA:2299] [KO:K09401]
(Type 4) IYD [HSA:389434] [KO:K17231]
(Type 5) DUOXA2 [HSA:405753] [KO:K17232]
TG [HSA:7038] [KO:K10809]
(Type 6) DUOX2 [HSA:50506] [KO:K13411]
Other DBs
ICD-11: 5A00.00
ICD-10: E07.1
MeSH: C564766 C563206 C536648 C562769 C562770 C562771 C564608
OMIM: 274400 274500 274600 274800 274900 607200 188450
Reference
  Authors
Topaloglu AK
  Title
Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism.
  Journal
Pediatr Endocrinol Rev 3  Suppl 3:498-502 (2006)
Reference
  Authors
Moreno JC, Visser TJ
  Title
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.
  Journal
Endocr Dev 10:99-117 (2007)
DOI:10.1159/0000106822
Reference
  Authors
Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T
  Title
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
  Journal
Eur J Endocrinol 156:511-9 (2007)
DOI:10.1530/EJE-07-0037
Reference
  Authors
Kumar PG, Anand SS, Sood V, Kotwal N
  Title
Thyroid dyshormonogenesis.
  Journal
Indian Pediatr 42:1233-5 (2005)
Reference
  Authors
Park SM, Chatterjee VK
  Title
Genetics of congenital hypothyroidism.
  Journal
J Med Genet 42:379-89 (2005)
DOI:10.1136/jmg.2004.024158
Reference
  Authors
Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G
  Title
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
  Journal
J Clin Endocrinol Metab 93:605-10 (2008)
DOI:10.1210/jc.2007-2020
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