KEGG   DISEASE: Premature ovarian failure
Entry
H00627                      Disease                                
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
Brite
Human diseases [BR:br08402]
 Reproductive system diseases
  Reproductive system diseases
   H00627  Premature ovarian failure
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the female genital system
   GA30  Menopausal or certain specified perimenopausal disorders
    H00627  Premature ovarian failure
Related
pathway
hsa04913  Ovarian steroidogenesis
hsa04060  Cytokine-cytokine receptor interaction
hsa04927  Cortisol synthesis and secretion
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]
Env factor
Mumps infection
Galactosemia
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
Reference
  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
Reference
  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
Reference
PMID:16078053 (FMR1)
  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
Reference
PMID:9497258 (DIAPH2)
  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
Reference
PMID:16773570 (POF1B)
  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
Reference
PMID:12149404 (FOXL2)
  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
Reference
PMID:16464940 (BMP15)
  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
Reference
PMID:17701902 (NOBOX)
  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
Reference
PMID:18499083 (FIGLA)
  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
Reference
PMID:19246354 (NR5A1)
  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
Reference
PMID:24597867 (STAG3)
  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
Reference
PMID:24597873 (HFM1)
  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
Reference
PMID:25437880 (MCM8)
  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
Reference
PMID:26218421 (ERCC6)
  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
Reference
PMID:25062452 (SYCE1)
  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
Reference
PMID:28175301 (MSH5)
  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
Reference
PMID:29044499 (GDF9)
  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
Reference
PMID:29231814 (FANCM)
  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
Reference
PMID:30010909 (BNC1)
  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
Reference
PMID:30489636 (XRCC2)
  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
Reference
PMID:33508233 (SIX6OS1)
  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
Reference
PMID:32845237 (HSF2BP)
  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
LinkDB

» Japanese version

DBGET integrated database retrieval system