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
Related
pathway
hsa00350  Tyrosine metabolism
hsa04918  Thyroid hormone synthesis
Network
nt06322  TRH-TSH-TH signaling
Gene
(TDH1) SLC5A5 [HSA:6528] [KO:K14385]
(TDH2A) TPO [HSA:7173] [KO:K00431]
(TDH2B) SLC26A4 [HSA:5172] [KO:K14702]
(TDH2B) FOXI1 [HSA:2299] [KO:K09401]
(TDH3) TG [HSA:7038] [KO:K10809]
(TDH4) IYD [HSA:389434] [KO:K17231]
(TDH5) DUOXA2 [HSA:405753] [KO:K17232]
(TDH6) 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 274700 274800 274900 607200
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
PMID:9171822 (TDH1)
  Authors
Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S, Amino N
  Title
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.
  Journal
Nat Genet 16:124-5 (1997)
DOI:10.1038/ng0697-124
Reference
PMID:1401057 (TDH2A)
  Authors
Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G
  Title
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
  Journal
J Clin Invest 90:1200-4 (1992)
DOI:10.1172/JCI115981
Reference
PMID:17503324 (TDH2B)
  Authors
Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ
  Title
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
  Journal
Am J Hum Genet 80:1055-63 (2007)
DOI:10.1086/518314
Reference
PMID:1752952 (TDH3)
  Authors
Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G
  Title
A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
  Journal
J Clin Invest 88:1901-5 (1991)
DOI:10.1172/JCI115513
Reference
PMID:18434651 (TDH4)
  Authors
Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Leger A, Goudie D, Polak M, Gruters A, Visser TJ
  Title
Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
  Journal
N Engl J Med 358:1811-8 (2008)
DOI:10.1056/NEJMoa0706819
Reference
PMID:18042646 (TDH5)
  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
Reference
PMID:12110737 (TDH6)
  Authors
Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C
  Title
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
  Journal
N Engl J Med 347:95-102 (2002)
DOI:10.1056/NEJMoa012752
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