| H00251 | |
| H number | H00251 |
| 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 and metabolic disease |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 | PMID:17468186 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 PMID:16424561 AUTHORS Kumar PG, Anand SS, Sood V, Kotwal N TITLE Thyroid dyshormonogenesis. JOURNAL Indian Pediatr 42:1233-5 (2005) PMID:15863666 AUTHORS Park SM, Chatterjee VK TITLE Genetics of congenital hypothyroidism. JOURNAL J Med Genet 42:379-89 (2005) DOI:10.1136/jmg.2004.024158 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 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 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 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 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 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 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 |