RPRGL1
MCID: PRG092
MIFTS: 45

Pregnancy Loss, Recurrent 1 (RPRGL1)

Categories: Fetal diseases, Genetic diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Pregnancy Loss, Recurrent 1

MalaCards integrated aliases for Pregnancy Loss, Recurrent 1:

Name: Pregnancy Loss, Recurrent 1 57
Pregnancy Loss, Recurrent, Susceptibility to, 1 57 28 5
Rpl 57 73 16
Recurrent Spontaneous Abortion 28 5
Recurrent Miscarriage 73 75
Rprgl1 57 73
Rprgl 57 73
Pregnancy Loss, Recurrent, Susceptibility to, Type 1 38
Fetal Loss, Recurrent, Susceptibility to 57
Abortion, Spontaneous, Recurrent 57
Spontaneous Recurrent Abortion 73
Pregnancy Loss, Recurrent, 1 73
Embryonic Loss, Recurrent 57
Recurrent Embryonic Loss 73
Miscarriage, Recurrent 57
Fetal Loss, Recurrent 57
Stillbirth, Recurrent 57
Miscarriage Recurrent 53
Recurrent Fetal Loss 73
Recurrent Stillbirth 73
Abortion, Habitual 71

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 614389
MeSH 43 D000026
MedGen 40 C3280670
UMLS 71 C0000809

Summaries for Pregnancy Loss, Recurrent 1

OMIM®: 57 Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006). Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for RPRGL include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008). (614389) (Updated 08-Dec-2022)

MalaCards based summary: Pregnancy Loss, Recurrent 1, also known as pregnancy loss, recurrent, susceptibility to, 1, is related to antiphospholipid syndrome and thrombophilia due to activated protein c resistance. An important gene associated with Pregnancy Loss, Recurrent 1 is F5 (Coagulation Factor V). The drugs Prednisone and Dydrogesterone have been mentioned in the context of this disorder. Affiliated tissues include nk cells, endothelial and placenta, and related phenotype is recurrent spontaneous abortion.

UniProtKB/Swiss-Prot: 73 A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions.

Wikipedia: 75 Recurrent miscarriage is three or more consecutive pregnancy losses. In contrast, infertility is the... more...

Related Diseases for Pregnancy Loss, Recurrent 1

Diseases in the Pregnancy Loss, Recurrent 1 family:

Pregnancy Loss, Recurrent 2 Pregnancy Loss, Recurrent 3

Diseases related to Pregnancy Loss, Recurrent 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 288)
# Related Disease Score Top Affiliating Genes
1 antiphospholipid syndrome 30.3 MTHFR F5 APOH
2 thrombophilia due to activated protein c resistance 30.1 MTHFR F5 APOH
3 thrombosis 30.1 MTHFR F5 APOH
4 eclampsia 30.0 MTHFR HLA-G APOH
5 protein s deficiency 29.9 MTHFR F5 APOH
6 thrombophilia due to thrombin defect 29.9 MTHFR F5 APOH
7 factor xii deficiency 29.9 F5 APOH
8 thrombophilia 29.8 MTHFR F5 APOH
9 antithrombin iii deficiency 29.8 MTHFR F5 APOH
10 protein c deficiency 29.8 MTHFR F5 APOH
11 severe pre-eclampsia 29.7 HLA-G F5 APOH
12 ectopic pregnancy 29.6 PAEP HLA-G
13 placental abruption 29.6 PIBF1 MTHFR F5 APOH
14 budd-chiari syndrome 29.6 MTHFR F5 APOH
15 hellp syndrome 29.5 MTHFR F5 APOH
16 hyperhomocysteinemia 29.5 MTHFR F5 APOH
17 cerebrovascular disease 29.3 MTHFR HOTAIR F5 APOH
18 stroke, ischemic 29.0 MTHFR F5 APOH
19 pre-eclampsia 28.7 MTHFR HOTAIR HLA-G F5 APOH
20 pregnancy loss, recurrent 2 11.1
21 pregnancy loss, recurrent 3 11.1
22 antiphospholipid syndrome, familial 11.1
23 diethylstilbestrol syndrome 11.0
24 uterine anomalies 10.4
25 hypothyroidism, congenital, nongoitrous, 1 10.3
26 cytokine deficiency 10.2
27 anxiety 10.2
28 acanthamoeba keratitis 10.1 F5 APOH
29 factor viii deficiency 10.1
30 ceroid lipofuscinosis, neuronal, 5 10.1
31 leptin deficiency or dysfunction 10.1
32 prothrombin deficiency, congenital 10.1 F5 APOH
33 amaurosis fugax 10.1 MTHFR F5
34 sneddon syndrome 10.1 F5 APOH
35 homocysteinemia 10.1 MTHFR F5
36 twin-reversed arterial perfusion sequence 10.1
37 immune deficiency disease 10.1
38 x inactivation, familial skewed, 1 10.1
39 dermatitis, atopic 10.1
40 macs syndrome 10.1
41 bachmann-bupp syndrome 10.1
42 thyroid hyalinizing trabecular adenoma 10.1
43 type 2 diabetes mellitus 10.1
44 down syndrome 10.1
45 hydatidiform mole, recurrent, 1 10.1
46 enhanced s-cone syndrome 10.1
47 body mass index quantitative trait locus 11 10.1
48 body mass index quantitative trait locus 1 10.1
49 mitochondrial trifunctional protein deficiency 10.1
50 rickets 10.1

Graphical network of the top 20 diseases related to Pregnancy Loss, Recurrent 1:



Diseases related to Pregnancy Loss, Recurrent 1

Symptoms & Phenotypes for Pregnancy Loss, Recurrent 1

Human phenotypes related to Pregnancy Loss, Recurrent 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent spontaneous abortion 30 HP:0200067

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary Internal Genitalia Female:
spontaneous abortion, recurrent
fetal loss after 20 weeks or more of gestation

Clinical features from OMIM®:

614389 (Updated 08-Dec-2022)

Drugs & Therapeutics for Pregnancy Loss, Recurrent 1

Drugs for Pregnancy Loss, Recurrent 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 169)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Dydrogesterone Approved, Investigational, Withdrawn Phase 4 152-62-5 9051
3
Warfarin Approved Phase 4 81-81-2, 129-06-6 54678486
4
Lenograstim Approved, Investigational Phase 4 135968-09-1
5
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
6
Sargramostim Approved, Investigational Phase 4 123774-72-1
7 Vaccines Phase 4
8 Hematinics Phase 4
9 Parenteral Nutrition Solutions Phase 4
10 Fat Emulsions, Intravenous Phase 4
11 Soybean oil, phospholipid emulsion Phase 4
12 Soy Bean Phase 4
13
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
14
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
15
Parathyroid hormone Approved, Investigational Phase 2, Phase 3 9002-64-6
16
Pancrelipase Approved, Investigational Phase 2, Phase 3 53608-75-6 8519
17
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
18
Tannic acid Approved Phase 2, Phase 3 1401-55-4 16129878 16129778
19 Orange Approved Phase 2, Phase 3
20
Clopidogrel Approved Phase 2, Phase 3 120202-66-6, 113665-84-2 60606
21
Mecobalamin Approved, Investigational Phase 3 13422-55-4
22
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 44475014
23
Tocopherol Approved, Investigational Phase 3 1406-66-2
24
Misoprostol Approved Phase 3 59122-46-2 5282381
25
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
26
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
27
Prednisolone Approved, Vet_approved Phase 3 50-24-8 4894 5755
28
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5 1875
29
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 4159 6741
30
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 67-97-0, 1406-16-2 5280795 10883523
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
32
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 3 59-02-9, 10191-41-0 2116 14985
33
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
34
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 24892734 16212801 44176380
35
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 253 171548
36
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 70-16-6 1130
37
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
38
Cobalamin Experimental Phase 3 13408-78-1 6857388
39
Tocotrienol Investigational Phase 3 6829-55-6 9929901
40
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7 4897
41 Immunosuppressive Agents Phase 2, Phase 3
42 Calcineurin Inhibitors Phase 2, Phase 3
43 Cyclosporins Phase 2, Phase 3
44 Antifungal Agents Phase 2, Phase 3
45 Chorionic Gonadotropin Phase 2, Phase 3
46 Liver Extracts Phase 2, Phase 3
47 Iron Supplement Phase 2, Phase 3
48 Calciferol Phase 2, Phase 3
49 Pancreatin Phase 2, Phase 3
50 Autoantibodies Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 123)
# Name Status NCT ID Phase Drugs
1 Low Dose Aspirin and Low-molecular-weight Heparin in the Treatment of Pregnant Libyan Women With Recurrent Miscarriage Unknown status NCT01917799 Phase 4 Aspirin;Heparin
2 Use of Warfarin After the First Trimester in Pregnant Women With Antiphospholipid Syndrome Unknown status NCT02303171 Phase 4 Enoxaparin;Warfarin
3 Role of Sildenafil Citrate in Patients With Unexplained Recurrent Miscarriages: a Randomized Clinical Trial Unknown status NCT01419392 Phase 4 Sildenafil citrate;matching placebo
4 A Randomized Controlled Trial of the Effect of Influenza Vaccination on Implantation and Pregnancy Rates After Donor Egg Recipient In-Vitro Fertilization Unknown status NCT02946177 Phase 4
5 The Novel Immunomodulatory and Anticoagulant Therapies for Recurrent Pregnancy Loss Unknown status NCT02990403 Phase 4 Aspirin;Heparin;Prednisone;Immunoglobulin;Dydrogesterone
6 Controlled Trial in Women With Recurrent Miscarriage of G-CSF Versus Placebo Completed NCT00772122 Phase 4 G-CSF;saline solution
7 Pr-conceptional Progesterone for Unexplained Recurrent Miscarriage Completed NCT01670929 Phase 4 Progesterone
8 Low Molecular Weight Heparin for Treatment of Recurrent Miscarriage With Negative Antiphospholipid Antibodies: a Randomized Controlled Trial Completed NCT01608347 Phase 4 LMWH+Folic acid;Folic Acid
9 EmbryoGen/ Blastgen for Couples With Implantation Problems or Previous Miscarriage Completed NCT02305420 Phase 4
10 Timing of Initiation of Low Molecular Weight Heparin Administration in Pregnant Women With Antiphospholipid Syndrome Completed NCT02326051 Phase 4 Enoxaparin
11 The Role of Intralipid in Natural Killer Cell Positive Cases With Recurrent Miscarriages Undergoing IVF/ICSI Cycles: a Double Blind Randomized Controlled Trial Completed NCT01788540 Phase 4 Intralipid
12 A Multicenter, Double-blind, Randomized and Parallel Controlled Study of Hydroxychloroquine Sulfate in the Treatment of Recurrent Miscarriage With Antiphospholipid Syndrome Not yet recruiting NCT04624269 Phase 4 Hydroxychloroquine Sulfate Tablets
13 Phase 4 Study of Effectiveness of Metformin in Patients With Unexplained Recurrent Miscarriages Withdrawn NCT01718340 Phase 4 Metformin
14 A Randomized, Controlled Trial of Cyclosporin A for Women With Unexplained Recurrent Miscarriage Unknown status NCT02706470 Phase 2, Phase 3 Cyclosporin A;Dydrogesterone
15 Low Dose Prednisone Therapy in Women With Recurrent Pregnancy Loss Unknown status NCT04558268 Phase 2, Phase 3 Prednisone;Progesterone
16 Aspirin Versus Clopidogrel Effect on Uterine Perfusion in Women With Unexplained Recurrent Pregnancy Loss With Decreased Uterine Artery Pulsatility Index: A Randomized Controlled Trial Unknown status NCT01635426 Phase 2, Phase 3 Aspirin;Clopidogrel
17 A Randomized, Placebo-controlled, Double-blind Trial of Intravenous Immunoglobulin for Women With Unexplained Secondary Recurrent Miscarriage Completed NCT00722475 Phase 3 Intravenous immunoglobulin;Human albumin
18 Oral Dydrogesterone Treatment During the First Trimester of Pregnancy in Women With Recurrent Miscarriage: A Double-Blind, Prospectively Randomized, Placebo-Controlled, Parallel Group Trial Completed NCT00193674 Phase 3 Dydrogesterone;Placebo
19 A Double-Blind, Randomized, Placebo-Controlled Study of GB-0998 in Patients With Unexplained Recurrent Miscarriage. Completed NCT02184741 Phase 3 GB-0998;Placebo
20 Phase III Study Analyzing the Effectiveness of Dalteparin Therapy as Intervention in Recurrent Pregnancy Loss Completed NCT00400387 Phase 3 Fragmin P Forte (dalteparin sodium)
21 Comparison of the Effect of Folic Acid and 5-methyltetrahydrofolate (5MTHF) on Serum Folate and Homocysteine Levels, and Abortion Rates in Women Suffering From Recurrent Abortion Completed NCT01976676 Phase 2, Phase 3
22 Role of LMWH (Enoxaparine) With or Without Aspirin in the Prevention of Habitual Abortion; Special Attention to the Thrombophilic Status of the Mother Completed NCT00959621 Phase 3 Aspirin;Klexane;Klexane and ASA
23 The Optimum Dose of Vaginal Misoprostol Prior to Office Hysteroscopy: Double Blind Randomized Controlled Trial Completed NCT01612065 Phase 3 Misoprostol
24 Effect of Prednisolone Treatment on Uterine Natural Killer Cells and Endometrial Angiogenesis in Recurrent Miscarriage Around the Time of Embryo Implantation Recruiting NCT03902912 Phase 3 Prednisolone
25 Prévention Des Fausses Couches Spontanées Répétées Par Hydroxychloroquine. Essai thérapeutique Multicentrique, randomisé, en Double Insu, Contre Placebo Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
26 Hydroxycloroquin (Plaquenil) Behandling af Gentagne Graviditetstab (Abortus Habitualis) - et Randomiseret, Dobbeltblindet, Placebo Kontrolleret Studium Recruiting NCT03305263 Phase 3 Hydroxychloroquine;Hydroxychloroquine placebo
27 Pregnancy Outcomes in Women With Unexplained Recurrent Pregnancy Loss Treated With Low Dose Aspirin and Unfractionated Heparin Recruiting NCT02144064 Phase 3 Heparin
28 A Randomised, Double Blind, Multi-center, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of NT100 in Pregnant Women With a History of Unexplained Recurrent Pregnancy Loss (RPL) Unknown status NCT02156063 Phase 2 NT100;Placebo
29 Evaluation of the Efficacy and Safety of the EVE- Skin-Test Panel in Detecting Sensitivity to Sex Hormones in Women With Unexplained Recurrent Pregnancy Loss Unknown status NCT01175759 Phase 2 Skin test panel
30 A Preliminary Study About Unexplained Recurrent Miscarriage and Repeated Implantation Failure Patients Treated With Low-dose Lymphocyte Immunotherapy Completed NCT03081325 Phase 1, Phase 2
31 Effect of Sildenafil Citrate on Mid Luteal Phase Uterine Artery Blood Flow in Patients With Recurrent Pregnancy Loss Due to Impaired Uterine Artery Blood Flow Completed NCT04718233 Phase 2 Sildenafil 25Mg Tablet;Placebo Oral Tablet
32 Low-molecular-weight Heparin Versus Unfractionated Heparin in Pregnant Women With History of Recurrent Abortion Secondary to Antiphospholipid Syndrome. A Randomized Controlled Trial Completed NCT01051778 Phase 2 enoxaparin 40mg plus low dose aspirin;Heparin calcium5,000 U twice daily plus low dose aspirin
33 Effect of IVIg on Pregnancy Rate of Patient With Recurrent Pregnancy Loss With Immunological Causes Completed NCT03174951 Phase 2 IVIg
34 Assessing the Endometrial Environment in Recurrent Pregnancy Loss and Unexplained Infertility Completed NCT03401918 Phase 2 Oral antibiotics and vaginal probiotics
35 Regulatory T-cell Induction by Low-dose Interleukin-2 in Women With Unexplained Repeated Spontaneous Early Miscarriages Recruiting NCT03970954 Phase 1, Phase 2 low-dose IL-2
36 Intravenous Immunoglobulin and Prednisolone to Women With Unexplained Recurrent Pregnancy Loss After Assisted Reproductive Technology Treatment: a Randomised, Double-blind, Placebo-controlled Trial Recruiting NCT04701034 Phase 2 Human Intravenous Immunoglobulins, (Privigen (R), CLS Behring);Prednisolone Tablets;Human Albumin Solution;Placebo tablet
37 Treatment of Recurrent Pregnancy Loss Using Mesenchymal Stem Cells Capable of Differentiation in the Endometrial-decidual Direction Not yet recruiting NCT05520112 Phase 1, Phase 2
38 RCT Assessing Hydroxychloroquine for Unexplained Recurrent Pregnancy Loss Withdrawn NCT02379650 Phase 2 Hydroxychloroquine (HCQ);Placebo
39 hCG or Progesterone Effect on Unexplained Recurrent Pregnancy Loss Withdrawn NCT05365464 Phase 2 Progesterone Pill;hCG
40 Intralipid Related Effect on NKcells in Patients With Unexplained Recurrent Spontaneous Abortions Unknown status NCT03132779 Phase 1 Intralipid
41 Effect of Preconceptional Sildenafil Citrate Treatment in Women With Early Unexplained Recurrent Pregnancy Loss: a Randomized Controlled Trial Completed NCT03766594 Phase 1 Sildenafil Citrate;Folic Acid;Placebo Oral Tablet
42 Hydroxychloroquine in Unexplained Recurrent Pregnancy Loss ,Double Blinded Randomized Controlled Trial . Not yet recruiting NCT05237843 Phase 1 Hydroxychloroquine
43 Association Between Interleukin-10 Promoter-1082A/G Polymorphism With Idiopathic Recurrent Miscarriage Risk of Chinese Han Unknown status NCT02633475
44 A Randomised Controlled Trial of Hysteroscopic Resection of Mild Septum/Arcuate Uteri in Women With Recurrent Miscarriage. Unknown status NCT03384082
45 Dental Health in Recurrent Miscarriage Unknown status NCT03577314
46 Assessment of Natural Killer Cells Activating and Inhibitors Unknown status NCT03941470
47 PAR Family Polymorphisms and Placental Invasion Disorders Unknown status NCT00425867
48 The Effect of the Ovarian Reserve on the Recurrent Pregnancy Loss Unknown status NCT03009370
49 Does a History of Recurrent Pregnancy Loss Predict a Prolonged Interval to the Second Live Birth or Increased Adverse Perinatal Outcomes for Women in British Columbia Unknown status NCT04360564
50 Meditation and Mindfulness for Recurrent Pregnancy Loss Unknown status NCT03905395

Search NIH Clinical Center for Pregnancy Loss, Recurrent 1

Genetic Tests for Pregnancy Loss, Recurrent 1

Genetic tests related to Pregnancy Loss, Recurrent 1:

# Genetic test Affiliating Genes
1 Pregnancy Loss, Recurrent, Susceptibility to, 1 28 F5
2 Recurrent Spontaneous Abortion 28

Anatomical Context for Pregnancy Loss, Recurrent 1

Organs/tissues related to Pregnancy Loss, Recurrent 1:

MalaCards : Nk Cells, Endothelial, Placenta, Skin, Thyroid, T Cells, Uterus

Publications for Pregnancy Loss, Recurrent 1

Articles related to Pregnancy Loss, Recurrent 1:

(show top 50) (show all 3663)
# Title Authors PMID Year
1
Mutations in coagulation factors in women with unexplained late fetal loss. 57 5
11018168 2000
2
Human genetics. Bad blood by mutation. 57 5
8164730 1994
3
Recurrent Pregnancy Loss and Concealed Long-QT Syndrome. 62 5
34398675 2021
4
Recurrent miscarriage. 62 57
16905025 2006
5
Deregulation of the serum- and glucocorticoid-inducible kinase SGK1 in the endometrium causes reproductive failure. 57
22001908 2011
6
Recurrent first trimester pregnancy loss: revised definitions and novel causes. 57
19779333 2009
7
Recurrent pregnancy loss: a disease of inflammation and coagulation. 57
19751318 2009
8
Genetics of pregnancy loss. 57
18303502 2008
9
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 5
16493002 2006
10
R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation. 5
15638861 2005
11
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 5
15534175 2004
12
Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection. 57
15142124 2004
13
Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. 5
14996674 2004
14
Improved hemoglobin status and reduced menstrual blood loss among female carriers of factor V Leiden--an evolutionary advantage? 5
11686338 2001
15
Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. 5
10666427 2000
16
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 5
10477778 1999
17
Double-homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis. 5
10507841 1999
18
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 5
10494770 1999
19
Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome. 5
10328130 1999
20
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 5
10348711 1999
21
Budd-Chiari syndrome, portal vein and mesenteric vein thrombosis in a patient homozygous for factor V Leiden mutation treated by TIPS and thrombolysis. 5
9734642 1998
22
A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. 5
9454741 1998
23
Case-control study of risk of cerebral sinus thrombosis in oral contraceptive users and in [correction of who are] carriers of hereditary prothrombotic conditions. The Cerebral Venous Sinus Thrombosis Study Group. 5
9518910 1998
24
Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism. 5
9459326 1998
25
Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. 5
9415695 1997
26
Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations. 5
9372726 1997
27
The prevalence of factor V Leiden (1691 G-->A) mutation in Turkey. 5
9339109 1997
28
Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. 5
9245936 1997
29
Inherited prethrombotic disorders and infectious purpura. 5
8822583 1996
30
HELLP syndrome associated with factor V R506Q mutation. 5
8616100 1996
31
Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C. 5
8566967 1996
32
Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. 5
7586244 1995
33
Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. 5
7877648 1995
34
High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis. 5
7803250 1994
35
Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. 5
8049422 1994
36
Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. 5
7911872 1994
37
Mutation in blood coagulation factor V associated with resistance to activated protein C. 5
8164741 1994
38
Activated protein C resistance caused by Arg506Gln mutation in factor Va. 5
7910348 1994
39
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. 57
7918041 1993
40
Factor XII (Hageman) deficiency in women with habitual abortion: new subpopulation of recurrent aborters? 57
8419231 1993
41
Maternal levels of pregnancy-specific beta 1-glycoprotein (SP-1) are elevated in pregnancies affected by Down's syndrome. 57
2971018 1988
42
Human trophoblast-lymphocyte cross-reactive (TLX) antigens define a new alloantigen system. 57
6648525 1983
43
Radioimmunoassay of SP1 (pregnancy-specific beta1-glycoprotein) in maternal blood and in amniotic fluid normal and pathologic pregnancies. 57
6787188 1981
44
Concentrations of pregnancy-specific beta 1-glycoprotein in maternal blood in normal pregnancy and in intrauterine growth retardation. 57
64859 1977
45
Case-control study of a HLA-G 14-bp insertion-deletion polymorphism in women with recurrent miscarriages. 53 62
20017810 2010
46
Progesterone-induced blocking factor (PIBF) modulates cytokine production by lymphocytes from women with recurrent miscarriage or preterm delivery. 53 62
19371956 2009
47
Pregnancy outcome in women with factor V Leiden and recurrent miscarriage. 53 62
19522801 2009
48
Tumor necrosis factor alpha and lymphotoxin alpha haplotypes in idiopathic recurrent pregnancy loss. 53 62
18394614 2009
49
Pravastatin prevents miscarriages in mice: role of tissue factor in placental and fetal injury. 53 62
19234141 2009
50
Aspirin or anticoagulants for treating recurrent miscarriage in women without antiphospholipid syndrome. 53 62
19160241 2009

Variations for Pregnancy Loss, Recurrent 1

ClinVar genetic disease variations for Pregnancy Loss, Recurrent 1:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCNB3 NM_033031.3(CCNB3):c.3752T>A (p.Val1251Asp) SNV Pathogenic
619178 rs1602253764 GRCh37: X:50089748-50089748
GRCh38: X:50346749-50346749
2 KCNQ1 NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp) SNV Pathogenic
53057 rs199472695 GRCh37: 11:2591898-2591898
GRCh38: 11:2570668-2570668
3 F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln) SNV Risk Factor
642 rs6025 GRCh37: 1:169519049-169519049
GRCh38: 1:169549811-169549811
4 CCDC68 NM_025214.3(CCDC68):c.775dup (p.Ser259fs) DUP Likely Pathogenic
812695 rs2044011378 GRCh37: 18:52586515-52586516
GRCh38: 18:54919284-54919285
5 overlap with 329 genes NC_000009.11:g.12246100_101559378inv INVERS Likely Pathogenic
694460 GRCh37: 9:12246100-101559378
GRCh38:
6 CENPH NM_022909.4(CENPH):c.635T>C (p.Ile212Thr) SNV Uncertain Significance
812698 rs1748193764 GRCh37: 5:68504170-68504170
GRCh38: 5:69208343-69208343
7 REXO4 NM_020385.4(REXO4):c.664C>T (p.Gln222Ter) SNV Uncertain Significance
812699 rs1839299409 GRCh37: 9:136277950-136277950
GRCh38: 9:133412830-133412830
8 PLK1 NM_005030.6(PLK1):c.128T>C (p.Val43Ala) SNV Uncertain Significance
812701 rs1597133306 GRCh37: 16:23690381-23690381
GRCh38: 16:23679060-23679060
9 PIF1 NM_001286496.2(PIF1):c.506C>T (p.Thr169Ile) SNV Uncertain Significance
812694 rs2084323887 GRCh37: 15:65116029-65116029
GRCh38: 15:64823830-64823830
10 F5 NM_000130.5(F5):c.5265A>G (p.Ile1755Met) SNV Uncertain Significance
579171 rs41272455 GRCh37: 1:169499000-169499000
GRCh38: 1:169529762-169529762
11 CBX3 NM_016587.4(CBX3):c.330+3A>G SNV Uncertain Significance
812697 rs746804235 GRCh37: 7:26248178-26248178
GRCh38: 7:26208558-26208558

Expression for Pregnancy Loss, Recurrent 1

Search GEO for disease gene expression data for Pregnancy Loss, Recurrent 1.

Pathways for Pregnancy Loss, Recurrent 1

GO Terms for Pregnancy Loss, Recurrent 1

Sources for Pregnancy Loss, Recurrent 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....