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Phenotype profile

recurrent pregnancy loss

SaudiVarKB evidence summary derived from retained literature mentions.

27Phenotype mentions
27Publications
50Associated gene records
23Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
MTHFRHGNC:743633
PGDHGNC:889122
ACEHGNC:270722
PAHHGNC:858211
COL1A2HGNC:219811
APOEHGNC:61311
F12HGNC:353011
CD40HGNC:1191911
KCNQ1HGNC:629411
G6PDHGNC:405711
AGLHGNC:32111
ABCB1HGNC:4011
LDLRHGNC:654711
BRAFHGNC:109711
CCNOHGNC:1857611
ASPMHGNC:1904811
ATP8B1HGNC:370611
EGFRHGNC:323611
ENTPD1HGNC:336311
DNAH11HGNC:294211
FGBHGNC:366211
ITGB3HGNC:615611
CD44HGNC:168111
FSHRHGNC:396911
APOBHGNC:60311
FTOHGNC:2467811
ZFP36HGNC:1286211
ROBO1HGNC:1024911
KIF2AHGNC:631811
RPL27AHGNC:1032911
CD200R1HGNC:2423511
STAMBPHGNC:1695011
CD226HGNC:1696111
IDH1HGNC:538211
IDH2HGNC:538311
OGTHGNC:812711
TMEM70HGNC:2605011
KCNE1HGNC:624011
IL17AHGNC:598111
PLK1HGNC:907711
NT5EHGNC:802111
F13A1HGNC:353111
ASIC5HGNC:1753711
TLE6HGNC:3078811
NLRP7HGNC:2294711
ZP1HGNC:1318711
NLRP5HGNC:2126911
CCDC68HGNC:2435011
CBX3HGNC:155311
CENPHHGNC:1726811

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
C677TC677T11
rs1801133rs180113311
p.Gly506Aspp.Gly506Asp11
c.169_171delc.169_171del11
G20210AG20210A11
p.W577Cp.W577C11
G894TG894T11
G1691AG1691A11
A4070GA4070G11
G20210AG20210A11
G103TG103T11
T1565CT1565C11
C677TC677T11
A1298CA1298C11
G10708AG10708A11
T388CT388C11
C526TC526T11
rs12976445rs1297644511
R506QR506Q11
c.680G>Tc.680G>T11
R227IR227I11
p.R227Ip.R227I11
A20210GA20210G11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia22
Saudi Arabia11
Population recordCohort 1811
Saudi ArabiaCohort 211
Population recordCohort 211
Population recordCohort 10311
Population recordCohort 2,43111
Population recordCohort 16211
Population recordCohort 6011
Saudi Arabia · Asir11
Saudi ArabiaCohort 1911
Population recordCohort 18011
Saudi ArabiaCohort 5011
Saudi ArabiaCohort 58511
Population recordCohort 4,03011
Saudi ArabiaCohort 17111
Saudi ArabiaCohort 40011

Supporting publications

27 records
  1. 2026Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.Journal of perinatal medicine1 mentions
  2. 2025High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C>T polymorphism in the absence of folate fortification.Clinical nutrition ESPEN1 mentions
  3. 2025Chromosomal abnormalities in couples with recurrent pregnancy loss: a 16-year cross-sectional study of 4030 cases from Turkey.Annals of Saudi medicine1 mentions
  4. 2025Potential association of certain microRNA gene polymorphisms with recurrent pregnancy loss susceptibility in Saudi women.PloS one1 mentions
  5. 2025Whole-Exome Sequencing in Recurrent Pregnancy Loss: Current Evidence and Future Directions in Saudi Arabia.Medical archives (Sarajevo, Bosnia and Herzegovina)1 mentions
  6. 2024Molecular cytogenetic analysis of multi-miscarriage products of conception in clinical cases from Al-Anbar Governorate, west of Iraq.Saudi journal of biological sciences1 mentions
  7. 2024Detection of human platelets antigen polymorphism (HPA-1 and HPA-3) and human factor XIII mutation in Sudanese women with recurrent pregnancy loss.BMC research notes1 mentions
  8. 2024Impact of Vitamin D deficiency on immunological and metabolic responses in women with recurrent pregnancy loss: focus on VDBP/HLA-G1/CTLA-4/ENTPD1/adenosine-fetal-maternal conflict crosstalk.BMC pregnancy and childbirth1 mentions
  9. 2024Investigating the complications of frequent pregnancy loss in patients referred to obstetrics and gynecology clinics at King Khalid University Hospital.Journal of family medicine and primary care1 mentions
  10. 2023Maternal Thrombophilic and Hypofibrinolytic Genetic Variants in Idiopathic Recurrent Pregnancy Loss: a Continuing Mystery.Reproductive sciences (Thousand Oaks, Calif.)1 mentions
  11. 2023Controversy and Consensus on Indications for Sperm DNA Fragmentation Testing in Male Infertility: A Global Survey, Current Guidelines, and Expert Recommendations.The world journal of men's health1 mentions
  12. 2023Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.JIMD reports1 mentions
  13. 2023Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report.Journal of medical case reports1 mentions
  14. 2022Recurrent spontaneous oocyte activation causes female infertility.Journal of assisted reproduction and genetics1 mentions
  15. 2022Implications of Decreased Expression of miR-125a with Respect to Its Variant Allele in the Pathogenesis of Recurrent Pregnancy Loss: A Study in a High Incidence Zone.Journal of clinical medicine1 mentions
  16. 2022Immunogenetic Role of IL17A Polymorphism in the Pathogenesis of Recurrent Miscarriage.Journal of clinical medicine1 mentions
  17. 2021Cytokine imbalance at materno-embryonic interface as a potential immune mechanism for recurrent pregnancy loss.International immunopharmacology1 mentions
  18. 2021Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss.Frontiers in medicine1 mentions
  19. 2021Phenotypic characterization of NKT-like cells and evaluation of specifically related cytokines for the prediction of unexplained recurrent miscarriage.Heliyon1 mentions
  20. 2020A genomics approach to females with infertility and recurrent pregnancy loss.Human genetics1 mentions
  21. 2020Association between factor V Leiden mutation and recurrent pregnancy loss in the middle east countries: a Newcastle-Ottawa meta-analysis.Archives of gynecology and obstetrics1 mentions
  22. 2020Evaluation of etiology and pregnancy outcome in recurrent miscarriage patients.Saudi journal of biological sciences1 mentions
  23. 2019[Balanced translocation in a patient with abortus habitualis and normal karyotype].Ugeskrift for laeger1 mentions
  24. 2016Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.BMC genomics1 mentions
  25. 2016Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia.BMC medical genetics1 mentions
  26. 2016Lack of Association between Angiotensin Converting Enzyme I/D Polymorphism and Unexplained Recurrent Miscarriage in Saudi Arabia.Journal of medical biochemistry1 mentions
  27. 2014Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing.GigaScience1 mentions