| H00627 | |
| H番号 | H00627 |
| 名称 | 早期卵巣機能不全 |
| 概要 | Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins). The causes of POF can be categorized into genetic and environmental mechanisms. X chromosome defects such as Turner syndrome or trisomy X as well as many genes including BMP15 andFMR1 are associated with POF development. For the environmental causes, medical intervention including surgeries and chemotherapies may lead to POF. Autoimmune ovarian failure consists another large category of POF. |
| カテゴリ | 生殖器系疾患 |
| ネットワーク | nt06508(H00627) Interstrand crosslink repair |
| 病因遺伝子 | (POF1) FMR1 [HSA:2332] [KO:K15516] (POF2A) DIAPH2 [HSA:1730] [KO:K05741] (POF2B) POF1B [HSA:79983] [KO:K23917] (POF3) FOXL2 [HSA:668] [KO:K09405] (POF4) BMP15 [HSA:9210] [KO:K05498] (POF5) NOBOX [HSA:135935] [KO:K24199] (POF6) FIGLA [HSA:344018] [KO:K09066] (POF7) NR5A1 [HSA:2516] [KO:K08560] (POF8) STAG3 [HSA:10734] [KO:K13055] (POF9) HFM1 [HSA:164045] [KO:K15271] (POF10) MCM8 [HSA:84515] [KO:K10737] (POF11) ERCC6 [HSA:2074] [KO:K10841] (POF12) SYCE1 [HSA:93426] [KO:K19534] (POF13) MSH5 [HSA:4439] [KO:K08741] (POF14) GDF9 [HSA:2661] [KO:K22673] (POF15) FANCM [HSA:57697] [KO:K10896] (POF16) BNC1 [HSA:646] [KO:K24146] (POF17) XRCC2 [HSA:7516] [KO:K10879] (POF18) SIX6OS1 [HSA:317761] [KO:K25705] (POF19) HSF2BP [HSA:11077] [KO:K25791] (POF20) MSH4 [HSA:4438] [KO:K08740] (POF21) TP63 [HSA:8626] [KO:K10149] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | For galactosemia, see H00070. |
| リンク | ICD-11: GA30.6 ICD-10: E28.3 MeSH: D016649 OMIM: 311360 300511 300604 608996 300510 611548 612310 612964 615723 615724 612885 616946 616947 617442 618014 618096 618723 619146 619203 619245 619938 620311 |
| 文献 | PMID:16722528 著者 Beck-Peccoz P, Persani L タイトル Premature ovarian failure. 雑誌 Orphanet J Rare Dis 1:9 (2006) DOI:10.1186/1750-1172-1-9 PMID:21188402 著者 Cordts EB, Christofolini DM, Dos Santos AA, Bianco B, Barbosa CP タイトル Genetic aspects of premature ovarian failure: a literature review. 雑誌 Arch Gynecol Obstet 283:635-43 (2011) DOI:10.1007/s00404-010-1815-4 PMID:16078053 (POF1) 著者 Bretherick KL, Fluker MR, Robinson WP タイトル FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. 雑誌 Hum Genet 117:376-82 (2005) DOI:10.1007/s00439-005-1326-8 PMID:9497258 (POF2A) 著者 Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D タイトル A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. 雑誌 Am J Hum Genet 62:533-41 (1998) DOI:10.1086/301761 PMID:16773570 (POF2B) 著者 Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E タイトル Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. 雑誌 Am J Hum Genet 79:113-9 (2006) DOI:10.1086/505406 PMID:12149404 (POF3) 著者 Harris SE, Chand AL, Winship IM, Gersak K, Aittomaki K, Shelling AN タイトル Identification of novel mutations in FOXL2 associated with premature ovarian failure. 雑誌 Mol Hum Reprod 8:729-33 (2002) DOI:10.1093/molehr/8.8.729 PMID:16464940 (POF4) 著者 Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, Einaudi S, Radetti G, Russo G, Sacco M, Wasniewska M, Cole T, Beck-Peccoz P, Nelson LM, Persani L タイトル Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. 雑誌 J Clin Endocrinol Metab 91:1976-9 (2006) DOI:10.1210/jc.2005-2650 PMID:17701902 (POF5) 著者 Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A タイトル NOBOX homeobox mutation causes premature ovarian failure. 雑誌 Am J Hum Genet 81:576-81 (2007) DOI:10.1086/519496 PMID:18499083 (POF6) 著者 Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A タイトル Transcription factor FIGLA is mutated in patients with premature ovarian failure. 雑誌 Am J Hum Genet 82:1342-8 (2008) DOI:10.1016/j.ajhg.2008.04.018 PMID:19246354 (POF7) 著者 Lourenco D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A タイトル Mutations in NR5A1 associated with ovarian insufficiency. 雑誌 N Engl J Med 360:1200-10 (2009) DOI:10.1056/NEJMoa0806228 PMID:24597867 (POF8) 著者 Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, Garcia-Tunon I, Fellous M, Pendas AM, Veitia RA, Vilain E タイトル Mutant cohesin in premature ovarian failure. 雑誌 N Engl J Med 370:943-949 (2014) DOI:10.1056/NEJMoa1309635 PMID:24597873 (POF9) 著者 Wang J, Zhang W, Jiang H, Wu BL タイトル Mutations in HFM1 in recessive primary ovarian insufficiency. 雑誌 N Engl J Med 370:972-4 (2014) DOI:10.1056/NEJMc1310150 PMID:25437880 (POF10) 著者 AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A タイトル Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. 雑誌 J Clin Invest 125:258-62 (2015) DOI:10.1172/JCI78473 PMID:26218421 (POF11) 著者 Qin Y, Guo T, Li G, Tang TS, Zhao S, Jiao X, Gong J, Gao F, Guo C, Simpson JL, Chen ZJ タイトル CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 雑誌 PLoS Genet 11:e1005419 (2015) DOI:10.1371/journal.pgen.1005419 PMID:25062452 (POF12) 著者 de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L タイトル Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. 雑誌 J Clin Endocrinol Metab 99:E2129-32 (2014) DOI:10.1210/jc.2014-1268 PMID:28175301 (POF13) 著者 Guo T, Zhao S, Zhao S, Chen M, Li G, Jiao X, Wang Z, Zhao Y, Qin Y, Gao F, Chen ZJ タイトル Mutations in MSH5 in primary ovarian insufficiency. 雑誌 Hum Mol Genet 26:1452-1457 (2017) DOI:10.1093/hmg/ddx044 PMID:29044499 (POF14) 著者 Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonca BB タイトル Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. 雑誌 Clin Genet 93:408-411 (2018) DOI:10.1111/cge.13156 PMID:29231814 (POF15) 著者 Fouquet B, Pawlikowska P, Caburet S, Guigon C, Makinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M タイトル A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. 雑誌 Elife 6:e30490 (2017) DOI:10.7554/eLife.30490 PMID:30010909 (POF16) 著者 Zhang D, Liu Y, Zhang Z, Lv P, Liu Y, Li J, Wu Y, Zhang R, Huang Y, Xu G, Qian Y, Qian Y, Chen S, Xu C, Shen J, Zhu L, Chen K, Zhu B, Ye X, Mao Y, Bo X, Zhou C, Wang T, Chen D, Yang W, Tan Y, Song Y, Zhou D, Sheng J, Gao H, Zhu Y, Li M, Wu L, He L, Huang H タイトル Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. 雑誌 Hum Mol Genet 27:3787-3800 (2018) DOI:10.1093/hmg/ddy261 PMID:30489636 (POF17) 著者 Zhang YX, Li HY, He WB, Tu C, Du J, Li W, Lu GX, Lin G, Yang Y, Tan YQ タイトル XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. 雑誌 Clin Genet 95:442-443 (2019) DOI:10.1111/cge.13475 PMID:33508233 (POF18) 著者 Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q タイトル Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. 雑誌 Am J Hum Genet 108:324-336 (2021) DOI:10.1016/j.ajhg.2021.01.010 PMID:32845237 (POF19) 著者 Felipe-Medina N, Caburet S, Sanchez-Saez F, Condezo YB, de Rooij DG, Gomez-H L, Garcia-Valiente R, Todeschini AL, Duque P, Sanchez-Martin MA, Shalev SA, Llano E, Veitia RA, Pendas AM タイトル A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1. 雑誌 Elife 9:e56996 (2020) DOI:10.7554/eLife.56996 PMID:28541421 (POF20) 著者 Carlosama C, Elzaiat M, Patino LC, Mateus HE, Veitia RA, Laissue P タイトル A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. 雑誌 Hum Mol Genet 26:3161-3166 (2017) DOI:10.1093/hmg/ddx199 PMID:30924587 (POF21) 著者 Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH タイトル TP63-truncating variants cause isolated premature ovarian insufficiency. 雑誌 Hum Mutat 40:886-892 (2019) DOI:10.1002/humu.23744 |