| H00627 | |
| H number | H00627 |
| Name | Premature ovarian failure |
| Description | 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. |
| Category | Reproductive system disease |
| Network | nt06508(H00627) Interstrand crosslink repair |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Estradiol [DR:D00105] |
| Comment | For galactosemia, see H00070. |
| Other DBs | 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 |
| Reference | PMID:16722528 AUTHORS Beck-Peccoz P, Persani L TITLE Premature ovarian failure. JOURNAL Orphanet J Rare Dis 1:9 (2006) DOI:10.1186/1750-1172-1-9 PMID:21188402 AUTHORS Cordts EB, Christofolini DM, Dos Santos AA, Bianco B, Barbosa CP TITLE Genetic aspects of premature ovarian failure: a literature review. JOURNAL Arch Gynecol Obstet 283:635-43 (2011) DOI:10.1007/s00404-010-1815-4 PMID:16078053 (POF1) AUTHORS Bretherick KL, Fluker MR, Robinson WP TITLE FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. JOURNAL Hum Genet 117:376-82 (2005) DOI:10.1007/s00439-005-1326-8 PMID:9497258 (POF2A) AUTHORS Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D TITLE 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. JOURNAL Am J Hum Genet 62:533-41 (1998) DOI:10.1086/301761 PMID:16773570 (POF2B) AUTHORS Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E TITLE Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. JOURNAL Am J Hum Genet 79:113-9 (2006) DOI:10.1086/505406 PMID:12149404 (POF3) AUTHORS Harris SE, Chand AL, Winship IM, Gersak K, Aittomaki K, Shelling AN TITLE Identification of novel mutations in FOXL2 associated with premature ovarian failure. JOURNAL Mol Hum Reprod 8:729-33 (2002) DOI:10.1093/molehr/8.8.729 PMID:16464940 (POF4) AUTHORS 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 TITLE Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. JOURNAL J Clin Endocrinol Metab 91:1976-9 (2006) DOI:10.1210/jc.2005-2650 PMID:17701902 (POF5) AUTHORS Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A TITLE NOBOX homeobox mutation causes premature ovarian failure. JOURNAL Am J Hum Genet 81:576-81 (2007) DOI:10.1086/519496 PMID:18499083 (POF6) AUTHORS Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A TITLE Transcription factor FIGLA is mutated in patients with premature ovarian failure. JOURNAL Am J Hum Genet 82:1342-8 (2008) DOI:10.1016/j.ajhg.2008.04.018 PMID:19246354 (POF7) AUTHORS 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 TITLE Mutations in NR5A1 associated with ovarian insufficiency. JOURNAL N Engl J Med 360:1200-10 (2009) DOI:10.1056/NEJMoa0806228 PMID:24597867 (POF8) AUTHORS 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 TITLE Mutant cohesin in premature ovarian failure. JOURNAL N Engl J Med 370:943-949 (2014) DOI:10.1056/NEJMoa1309635 PMID:24597873 (POF9) AUTHORS Wang J, Zhang W, Jiang H, Wu BL TITLE Mutations in HFM1 in recessive primary ovarian insufficiency. JOURNAL N Engl J Med 370:972-4 (2014) DOI:10.1056/NEJMc1310150 PMID:25437880 (POF10) AUTHORS 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 TITLE Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. JOURNAL J Clin Invest 125:258-62 (2015) DOI:10.1172/JCI78473 PMID:26218421 (POF11) AUTHORS Qin Y, Guo T, Li G, Tang TS, Zhao S, Jiao X, Gong J, Gao F, Guo C, Simpson JL, Chen ZJ TITLE CSB-PGBD3 Mutations Cause Premature Ovarian Failure. JOURNAL PLoS Genet 11:e1005419 (2015) DOI:10.1371/journal.pgen.1005419 PMID:25062452 (POF12) AUTHORS de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L TITLE Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. JOURNAL J Clin Endocrinol Metab 99:E2129-32 (2014) DOI:10.1210/jc.2014-1268 PMID:28175301 (POF13) AUTHORS Guo T, Zhao S, Zhao S, Chen M, Li G, Jiao X, Wang Z, Zhao Y, Qin Y, Gao F, Chen ZJ TITLE Mutations in MSH5 in primary ovarian insufficiency. JOURNAL Hum Mol Genet 26:1452-1457 (2017) DOI:10.1093/hmg/ddx044 PMID:29044499 (POF14) AUTHORS Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonca BB TITLE Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. JOURNAL Clin Genet 93:408-411 (2018) DOI:10.1111/cge.13156 PMID:29231814 (POF15) AUTHORS 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 TITLE A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. JOURNAL Elife 6:e30490 (2017) DOI:10.7554/eLife.30490 PMID:30010909 (POF16) AUTHORS 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 TITLE Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. JOURNAL Hum Mol Genet 27:3787-3800 (2018) DOI:10.1093/hmg/ddy261 PMID:30489636 (POF17) AUTHORS Zhang YX, Li HY, He WB, Tu C, Du J, Li W, Lu GX, Lin G, Yang Y, Tan YQ TITLE XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. JOURNAL Clin Genet 95:442-443 (2019) DOI:10.1111/cge.13475 PMID:33508233 (POF18) AUTHORS 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 TITLE Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. JOURNAL Am J Hum Genet 108:324-336 (2021) DOI:10.1016/j.ajhg.2021.01.010 PMID:32845237 (POF19) AUTHORS 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 TITLE A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1. JOURNAL Elife 9:e56996 (2020) DOI:10.7554/eLife.56996 PMID:28541421 (POF20) AUTHORS Carlosama C, Elzaiat M, Patino LC, Mateus HE, Veitia RA, Laissue P TITLE A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. JOURNAL Hum Mol Genet 26:3161-3166 (2017) DOI:10.1093/hmg/ddx199 PMID:30924587 (POF21) AUTHORS Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH TITLE TP63-truncating variants cause isolated premature ovarian insufficiency. JOURNAL Hum Mutat 40:886-892 (2019) DOI:10.1002/humu.23744 |