H00250 | |
H number | H00250 |
Name | Congenital nongoitrous hypothyroidism (CHNG) |
Description | Congenital nongoitrous hypothyroidism (CHNG) is characterized as resistance to thyroid-stimulating hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential for early brain development. The neonatal screening can avoid the poor prognosis of hypothyroidism. |
Category | Endocrine and metabolic disease |
Network | nt06322 TRH-TSH-TH signaling nt06531(H00250) lipid and insulin related signaling |
Gene | (CHNG1) TSHR [HSA:7253] [KO:K04249] (CHNG2) PAX8 [HSA:7849] [KO:K09293] (CHNG4) TSHB [HSA:7252] [KO:K05251] (CHNG5) NKX2-5 [HSA:1482] [KO:K09345] (CHNG6) THRA [HSA:7067] [KO:K05547] (CHNG7) TRHR [HSA:7201] [KO:K04282] (CHNG8) TBL1X [HSA:6907] [KO:K04508] (CHNG9) IRS4 [HSA:8471] [KO:K17446] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Levothyroxine sodium [DR:D01010] |
Comment | - |
Other DBs | ICD-11: 5A00.01 ICD-10: E03.1 MeSH: D003409 OMIM: 275200 218700 275100 225250 614450 618573 301033 301035 |
Reference | PMID:18174723 AUTHORS Gruters A, Krude H TITLE Update on the management of congenital hypothyroidism. JOURNAL Horm Res 68 Suppl 5:107-11 (2007) DOI:10.1159/000110591 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:30324792 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 PMID:7528344 (CHNG1) AUTHORS Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S TITLE Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. JOURNAL N Engl J Med 332:155-60 (1995) DOI:10.1056/NEJM199501193320305 PMID:9590296 (CHNG2) AUTHORS Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R TITLE PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. JOURNAL Nat Genet 19:83-6 (1998) DOI:10.1038/ng0598-83 PMID:2792087 (CHNG4) AUTHORS Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K TITLE Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. JOURNAL EMBO J 8:2291-6 (1989) DOI:10.1002/j.1460-2075.1989.tb08355.x PMID:16418214 (CHNG5) AUTHORS Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M, Macchia PE TITLE Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. JOURNAL J Clin Endocrinol Metab 91:1428-33 (2006) DOI:10.1210/jc.2005-1350 PMID:25670821 (CHNG6) AUTHORS Tylki-Szymanska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Rozdzynska-Swiatkowska A, Hoischen A, Chrzanowska KH TITLE Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor alpha gene (THRA). JOURNAL J Med Genet 52:312-6 (2015) DOI:10.1136/jmedgenet-2014-102936 PMID:9141550 (CHNG7) AUTHORS Collu R, Tang J, Castagne J, Lagace G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne KA, Van Vliet G TITLE A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. JOURNAL J Clin Endocrinol Metab 82:1561-5 (1997) DOI:10.1210/jcem.82.5.3918 PMID:30591955 (CHNG8) AUTHORS Garcia M, Barreda-Bonis AC, Jimenez P, Rabanal I, Ortiz A, Vallespin E, Del Pozo A, Martinez-San Millan J, Gonzalez-Casado I, Moreno JC TITLE Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X. JOURNAL J Endocr Soc 3:119-128 (2019) DOI:10.1210/js.2018-00144 PMID:30061370 (CHNG9) AUTHORS Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E TITLE Mutations in IRS4 are associated with central hypothyroidism. JOURNAL J Med Genet 55:693-700 (2018) DOI:10.1136/jmedgenet-2017-105113 |