| H00250 | |
| H番号 | H00250 |
| 名称 | 先天性甲状腺機能低下症 (甲状腺腫を伴わない) |
| 概要 | 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. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06322 TRH-TSH-TH signaling nt06531(H00250) lipid and insulin related signaling |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A00.01 ICD-10: E03.1 MeSH: D003409 OMIM: 275200 218700 275100 225250 614450 618573 301033 301035 |
| 文献 | PMID:18174723 著者 Gruters A, Krude H タイトル Update on the management of congenital hypothyroidism. 雑誌 Horm Res 68 Suppl 5:107-11 (2007) DOI:10.1159/000110591 PMID:15863666 著者 Park SM, Chatterjee VK タイトル Genetics of congenital hypothyroidism. 雑誌 J Med Genet 42:379-89 (2005) DOI:10.1136/jmg.2004.024158 PMID:30324792 著者 Peters C, van Trotsenburg ASP, Schoenmakers N タイトル DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives 雑誌 Eur J Endocrinol 179:R297-R317 (2018) DOI:10.1530/EJE-18-0383 PMID:7528344 (CHNG1) 著者 Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S タイトル Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. 雑誌 N Engl J Med 332:155-60 (1995) DOI:10.1056/NEJM199501193320305 PMID:9590296 (CHNG2) 著者 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 タイトル PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. 雑誌 Nat Genet 19:83-6 (1998) DOI:10.1038/ng0598-83 PMID:2792087 (CHNG4) 著者 Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K タイトル Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. 雑誌 EMBO J 8:2291-6 (1989) DOI:10.1002/j.1460-2075.1989.tb08355.x PMID:16418214 (CHNG5) 著者 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 タイトル Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 雑誌 J Clin Endocrinol Metab 91:1428-33 (2006) DOI:10.1210/jc.2005-1350 PMID:25670821 (CHNG6) 著者 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 タイトル Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor alpha gene (THRA). 雑誌 J Med Genet 52:312-6 (2015) DOI:10.1136/jmedgenet-2014-102936 PMID:9141550 (CHNG7) 著者 Collu R, Tang J, Castagne J, Lagace G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne KA, Van Vliet G タイトル A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. 雑誌 J Clin Endocrinol Metab 82:1561-5 (1997) DOI:10.1210/jcem.82.5.3918 PMID:30591955 (CHNG8) 著者 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 タイトル Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X. 雑誌 J Endocr Soc 3:119-128 (2019) DOI:10.1210/js.2018-00144 PMID:30061370 (CHNG9) 著者 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 タイトル Mutations in IRS4 are associated with central hypothyroidism. 雑誌 J Med Genet 55:693-700 (2018) DOI:10.1136/jmedgenet-2017-105113 |