Primary ovarian insufficiency (WP5461)

Homo sapiens

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Primary Ovarian Insufficiency pathway

Authors

Vanessa Sousa

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

regulatory pathway

Disease Ontology

primary ovarian insufficiency

Participants
Query Drugst.One

Label Type Compact URI Comment
ZP3 GeneProduct ensembl:ENSG00000188372
NUP43 GeneProduct ensembl:ENSG00000120253
PRDM1 GeneProduct ensembl:ENSG00000057657
SOHLH2 GeneProduct ensembl:ENSG00000120669
XPNPEP2  GeneProduct ensembl:ENSG00000122121
LHX8 GeneProduct ensembl:ENSG00000162624
MLH1 GeneProduct ensembl:ENSG00000076242
FANCA GeneProduct ensembl:ENSG00000187741
MCMDC2 GeneProduct ensembl:ENSG00000178460
H1-8 GeneProduct ensembl:ENSG00000178804
BMP6 GeneProduct ensembl:ENSG00000153162
POF1B GeneProduct ensembl:ENSG00000124429
FANCC GeneProduct ensembl:ENSG00000158169
PPM1B GeneProduct ensembl:ENSG00000138032
FANCI GeneProduct ensembl:ENSG00000140525
HSD17B1 GeneProduct ensembl:ENSG00000108786
FMR1 GeneProduct ensembl:ENSG00000102081
STAR GeneProduct ensembl:ENSG00000147465
HMMR GeneProduct ensembl:ENSG00000072571
HROB GeneProduct ensembl:ENSG00000125319
HELQ GeneProduct ensembl:ENSG00000163312
SLX4 GeneProduct ensembl:ENSG00000188827
FANCL GeneProduct ensembl:ENSG00000115392
ELAVL2 GeneProduct ensembl:ENSG00000107105
KASH5 GeneProduct ensembl:ENSG00000161609
XRCC4 GeneProduct ensembl:ENSG00000152422
LGR4 GeneProduct ensembl:ENSG00000205213
ANTXR1 GeneProduct ensembl:ENSG00000169604
CCDC185 GeneProduct ensembl:ENSG00000178395
SHOC1 GeneProduct ensembl:ENSG00000165181
AR GeneProduct ensembl:ENSG00000169083
CENPE GeneProduct ensembl:ENSG00000138778
MST1R GeneProduct ensembl:ENSG00000164078
SGO2 GeneProduct ensembl:ENSG00000163535
EIF2B1 GeneProduct ensembl:ENSG00000111361
MGME1 GeneProduct ensembl:ENSG00000125871
CCDC150 GeneProduct ensembl:ENSG0000014439
ALOX12 GeneProduct ensembl:ENSG00000108839
C1orf146 GeneProduct ensembl:ENSG00000203910
NLRP11 GeneProduct ensembl:ENSG00000179873
STRA8 GeneProduct ensembl:ENSG00000146857
SPATA33 GeneProduct ensembl:ENSG00000167523
COX10 GeneProduct ensembl:ENSG00000006695
ZAR1 GeneProduct ensembl:ENSG00000182223
SWI5 GeneProduct ensembl:ENSG00000175854
RFWD3 GeneProduct ensembl:ENSG00000168411
DAZL GeneProduct ensembl:ENSG00000092345
MEIOSIN GeneProduct ensembl:ENSG00000237452
PRORP GeneProduct ensembl:ENSG00000100890
PREPL GeneProduct ensembl:ENSG00000138078
LIG4 GeneProduct ensembl:ENSG00000174405
CYP17A1 GeneProduct ensembl:ENSG00000148795
CYP19A1 GeneProduct ensembl:ENSG00000137869
BMP15 GeneProduct ensembl:ENSG00000130385
MCM9 GeneProduct ensembl:ENSG00000111877
ESR2 GeneProduct ensembl:ENSG00000140009
RCBTB1 GeneProduct ensembl:ENSG00000136144
CAV1 GeneProduct ensembl:ENSG00000105974
AIRE GeneProduct ensembl:ENSG00000160224
PSMC3IP GeneProduct ensembl:ENSG00000131470
SPIDR GeneProduct ensembl:ENSG00000164808
SOHLH1 GeneProduct ensembl:ENSG00000165643
EIF4ENIF1 GeneProduct ensembl:ENSG00000184708
PCCB GeneProduct ensembl:ENSG00000114054
BMPR1A GeneProduct ensembl:ENSG00000107779
SOX8 GeneProduct ensembl:ENSG00000005513
PGRMC1 GeneProduct ensembl:ENSG00000101856
FIGLA GeneProduct ensembl:ENSG00000183733
DIAPH2 GeneProduct ensembl:ENSG00000147202
DMC1 GeneProduct ensembl:ENSG00000100206
SIL1 GeneProduct ensembl:ENSG00000120725
FSHR GeneProduct ensembl:ENSG00000170820
MSH5 GeneProduct ensembl:ENSG00000204410
BLM GeneProduct ensembl:ENSG00000197299
MSH4 GeneProduct ensembl:ENSG00000057468
LAMC1 GeneProduct ensembl:ENSG00000135862
NBN GeneProduct ensembl:ENSG00000104320
BMPR1B GeneProduct ensembl:ENSG00000138696
NOBOX GeneProduct ensembl:ENSG00000106410
LMNA GeneProduct ensembl:ENSG00000160789
ATG9A GeneProduct ensembl:ENSG00000198925
GNAS GeneProduct ensembl:ENSG00000087460
AMH GeneProduct ensembl:ENSG00000104899
KHDRBS1 GeneProduct ensembl:ENSG00000121774
WRN GeneProduct ensembl:ENSG00000165392
ESR1 GeneProduct ensembl:ENSG00000091831
GALT GeneProduct ensembl:ENSG00000213930
HARS2 GeneProduct ensembl:ENSG00000112855
MND1 GeneProduct ensembl:ENSG00000121211
EIF2B2 GeneProduct ensembl:ENSG00000119718
AMHR2 GeneProduct ensembl:ENSG00000135409
TGFBR3 GeneProduct ensembl:ENSG00000069702
GDF9 GeneProduct ensembl:ENSG00000164404
NANOS3 GeneProduct ensembl:ENSG00000187556
AARS2 GeneProduct ensembl:ENSG00000124608
ERAL1 GeneProduct ensembl:ENSG00000132591
BMPR2 GeneProduct ensembl:ENSG00000204217
ATG7 GeneProduct ensembl:ENSG00000197548
MCM8 GeneProduct ensembl:ENSG00000125885
NR5A1 GeneProduct ensembl:ENSG00000136931
HSD17B4 GeneProduct ensembl:ENSG00000133835
RAD51 GeneProduct ensembl:ENSG00000051180
EXO1 GeneProduct ensembl:ENSG00000174371
FANCM GeneProduct ensembl:ENSG00000187790
ERCC6 GeneProduct ensembl:ENSG00000225830
POLR3H GeneProduct ensembl:ENSG00000100413
HAX1 GeneProduct ensembl:ENSG00000143575
RECQL4 GeneProduct ensembl:ENSG00000160957
CLPP GeneProduct ensembl:ENSG00000125656
WT1 GeneProduct ensembl:ENSG00000184937
TP63 GeneProduct ensembl:ENSG00000073282
PMM2 GeneProduct ensembl:ENSG00000140650
LARS2 GeneProduct ensembl:ENSG00000011376
MEIOB GeneProduct ensembl:ENSG00000162039
WDR62 GeneProduct ensembl:ENSG00000075702
TWNK GeneProduct ensembl:ENSG00000107815
BRCA2 GeneProduct ensembl:ENSG00000139618
FOXL2 GeneProduct ensembl:ENSG00000183770
BNC1 GeneProduct ensembl:ENSG00000169594
C14ORF39 GeneProduct ensembl:ENSG00000179008
EIF2B5 GeneProduct ensembl:ENSG00000145191
SYCE1 GeneProduct ensembl:ENSG00000171772
SALL4 GeneProduct ensembl:ENSG00000101115
XRCC2 GeneProduct ensembl:ENSG00000196584
ATM GeneProduct ensembl:ENSG00000149311
PCCA GeneProduct ensembl:ENSG00000175198
NUP107 GeneProduct ensembl:ENSG00000111581
CPEB1 GeneProduct ensembl:ENSG00000214575
MRPS22 GeneProduct ensembl:ENSG00000175110
NOTCH2 GeneProduct ensembl:ENSG00000134250
DCAF17 GeneProduct ensembl:ENSG00000115827
HFM1 GeneProduct ensembl:ENSG00000162669
POLG GeneProduct ensembl:ENSG00000140521
SYCP2L GeneProduct ensembl:ENSG00000153157
STAG3 GeneProduct ensembl:ENSG00000066923
POLR2C GeneProduct ensembl:ENSG00000102978
EIF2B4 GeneProduct ensembl:ENSG00000115211

References

  1. Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure. Qin C rong, Chen S ling, Yao J long, Li T, Wu W qing. Gynecol Endocrinol. 2012 Jan;28(1):63–7. PubMed Europe PMC Scholia
  2. LAMC1 gene is associated with premature ovarian failure. Pyun JA, Cha DH, Kwack K. Maturitas. 2012 Apr;71(4):402–6. PubMed Europe PMC Scholia
  3. Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure. Qin Y, Jiao X, Dalgleish R, Vujovic S, Li J, Simpson JL, et al. Fertil Steril. 2014 Apr;101(4):1104-1109.e6. PubMed Europe PMC Scholia
  4. Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. Faridi R, Rehman AU, Morell RJ, Friedman PL, Demain L, Zahra S, et al. Clin Genet. 2017 Feb;91(2):328–32. PubMed Europe PMC Scholia
  5. Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency. Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, et al. Trends Endocrinol Metab. 2018 Jun;29(6):400–19. PubMed Europe PMC Scholia
  6. Mitochondrial Dysfunction in Primary Ovarian Insufficiency. Tiosano D, Mears JA, Buchner DA. Endocrinology. 2019 Oct 1;160(10):2353–66. PubMed Europe PMC Scholia
  7. Variants in Homologous Recombination Genes EXO1 and RAD51 Related with Premature Ovarian Insufficiency. Luo W, Guo T, Li G, Liu R, Zhao S, Song M, et al. J Clin Endocrinol Metab. 2020 Oct 1;105(10):dgaa505. PubMed Europe PMC Scholia
  8. Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency. França MM, Funari MFA, Lerario AM, Santos MG, Nishi MY, Domenice S, et al. PLoS One. 2020 Oct 23;15(10):e0240795. PubMed Europe PMC Scholia
  9. Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency. Eskenazi S, Bachelot A, Hugon-Rodin J, Plu-Bureau G, Gompel A, Catteau-Jonard S, et al. J Endocr Soc. 2021 Mar 1;5(7):bvab032. PubMed Europe PMC Scholia
  10. Genetics of ovarian insufficiency and defects of folliculogenesis. França MM, Mendonca BB. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101594. PubMed Europe PMC Scholia
  11. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine. Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, et al. EBioMedicine. 2022 Oct;84:104246. PubMed Europe PMC Scholia
  12. Landscape of pathogenic mutations in premature ovarian insufficiency. Ke H, Tang S, Guo T, Hou D, Jiao X, Li S, et al. Nat Med. 2023 Feb;29(2):483–92. PubMed Europe PMC Scholia
  13. Pathogenic bi-allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency. Qi Y, Wang Y, Li W, Zhuang S, Li S, Xu K, et al. Clin Genet. 2023 Oct;104(4):486–90. PubMed Europe PMC Scholia
  14. Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency. Cao L, He X, Ren J, Wen C, Guo T, Yang F, et al. Hum Genet. 2024 Mar;143(3):357–69. PubMed Europe PMC Scholia