RPRGL1
MCID: PRG092
MIFTS: 42

Pregnancy Loss, Recurrent 1 (RPRGL1)

Categories: Fetal diseases, Genetic diseases

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 29 13 6
Rpl 57 72 17
Abortion, Habitual 44 70
Rprgl1 57 72
Rprgl 57 72
Pregnancy Loss, Recurrent, Susceptibility to, Type 1 39
Fetal Loss, Recurrent, Susceptibility to 57
Abortion, Spontaneous, Recurrent 57
Spontaneous Recurrent Abortion 72
Recurrent Spontaneous Abortion 6
Pregnancy Loss, Recurrent, 1 72
Embryonic Loss, Recurrent 57
Recurrent Embryonic Loss 72
Miscarriage, Recurrent 57
Fetal Loss, Recurrent 57
Stillbirth, Recurrent 57
Recurrent Miscarriage 72
Miscarriage Recurrent 54
Recurrent Fetal Loss 72
Recurrent Stillbirth 72
Habitual Abortion 17

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
pregnancy loss, recurrent 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614389
MeSH 44 D000026
MedGen 41 C3280670
SNOMED-CT via HPO 68 263681008
UMLS 70 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 20-May-2021)

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 Dalteparin and Heparin have been mentioned in the context of this disorder. Affiliated tissues include placenta, thyroid and endothelial, and related phenotype is recurrent spontaneous abortion.

UniProtKB/Swiss-Prot : 72 Pregnancy loss, recurrent, 1: 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 : 73 Recurrent miscarriage is two 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 227)
# Related Disease Score Top Affiliating Genes
1 antiphospholipid syndrome 30.6 F5 APOH
2 thrombophilia due to activated protein c resistance 30.3 F5 APOH
3 factor xii deficiency 30.2 F5 APOH
4 pre-eclampsia 30.2 HOTAIR HLA-G F5 APOH
5 protein s deficiency 30.1 F5 APOH
6 antithrombin iii deficiency 30.1 F5 APOH
7 thrombophilia due to thrombin defect 30.0 F5 APOH
8 protein c deficiency 30.0 F5 APOH
9 severe pre-eclampsia 29.9 HLA-G F5 APOH
10 placental abruption 29.8 HLA-G F5 APOH
11 cerebrovascular disease 29.6 HOTAIR F5 APOH
12 budd-chiari syndrome 29.6 F5 APOH
13 placenta disease 29.5 HLA-G F5 APOH
14 homocysteinemia 29.5 F5 APOH
15 pregnancy loss, recurrent 2 11.0
16 pregnancy loss, recurrent 3 11.0
17 antiphospholipid syndrome, familial 11.0
18 diethylstilbestrol syndrome 11.0
19 uterine anomalies 10.4
20 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
21 eclampsia 10.4
22 cytokine deficiency 10.3
23 listeriosis 10.2
24 triiodothyronine receptor auxiliary protein 10.2
25 body mass index quantitative trait locus 1 10.1
26 anxiety 10.1
27 hyperprolactinemia 10.1
28 endometritis 10.1
29 chromosomal triplication 10.1
30 may-thurner syndrome 10.1 F5 APOH
31 acanthamoeba keratitis 10.1 F5 APOH
32 spinal cord infarction 10.1 F5 APOH
33 catastrophic antiphospholipid syndrome 10.1 F5 APOH
34 cerebral sinovenous thrombosis 10.1 F5 APOH
35 prothrombin deficiency, congenital 10.1 F5 APOH
36 sneddon syndrome 10.1 F5 APOH
37 intracranial thrombosis 10.1 F5 APOH
38 peripheral vertigo 10.1 F5 APOH
39 carotid artery occlusion 10.1 F5 APOH
40 thrombophlebitis 10.1 F5 APOH
41 purpura fulminans 10.1 F5 APOH
42 ischemic colitis 10.1 F5 APOH
43 retinal vascular occlusion 10.1 F5 APOH
44 central retinal vein occlusion 10.1 F5 APOH
45 retinal vein occlusion 10.1 F5 APOH
46 x inactivation, familial skewed, 1 10.1
47 dermatitis, atopic 10.1
48 bachmann-bupp syndrome 10.1
49 bacterial infectious disease 10.1
50 thyroid hyalinizing trabecular adenoma 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:

31
# Description HPO Frequency HPO Source Accession
1 recurrent spontaneous abortion 31 HP:0200067

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
spontaneous abortion, recurrent
fetal loss after 20 weeks or more of gestation

Clinical features from OMIM®:

614389 (Updated 20-May-2021)

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 163)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4 9005-49-6
2
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
3
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
4
Dydrogesterone Approved, Investigational, Withdrawn Phase 4 152-62-5 9051
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6
Nitric Oxide Approved Phase 4 10102-43-9 145068
7
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
8
Sargramostim Approved, Investigational Phase 4 123774-72-1, 83869-56-1
9
Lenograstim Approved, Investigational Phase 4 135968-09-1
10
Enoxaparin Approved Phase 4 9005-49-6 772
11
Warfarin Approved Phase 4 81-81-2 6691 54678486
12 Heparin, Low-Molecular-Weight Phase 4
13 calcium heparin Phase 4
14 Immunologic Factors Phase 4
15 Immunoglobulins, Intravenous Phase 4
16 Hormones Phase 4
17 Hormone Antagonists Phase 4
18 glucocorticoids Phase 4
19 Antineoplastic Agents, Hormonal Phase 4
20 Anti-Inflammatory Agents Phase 4
21 Antirheumatic Agents Phase 4
22 Progestins Phase 4
23 Anticoagulants Phase 4
24 Fibrinolytic Agents Phase 4
25 Cyclooxygenase Inhibitors Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Platelet Aggregation Inhibitors Phase 4
28 Anti-Inflammatory Agents, Non-Steroidal Phase 4
29 Analgesics Phase 4
30 Antipyretics Phase 4
31 Soy Bean Phase 4
32 Soybean oil, phospholipid emulsion Phase 4
33 Parenteral Nutrition Solutions Phase 4
34 Fat Emulsions, Intravenous Phase 4
35 Adjuvants, Immunologic Phase 4
36 Vaccines Phase 4
37
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
38
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
39
Clopidogrel Approved Phase 2, Phase 3 120202-66-6, 113665-84-2 60606
40
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
41
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
42
Tocopherol Approved, Investigational Phase 3 1406-66-2
43
Misoprostol Approved Phase 3 59122-46-2 5282381
44
Hydroxychloroquine Approved Phase 3 118-42-3 3652
45
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
46
Progesterone Approved, Vet_approved Phase 2, Phase 3 57-83-0 5994
47
tannic acid Approved Phase 2, Phase 3 1401-55-4
48
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
49
Parathyroid hormone Approved, Investigational Phase 2, Phase 3 9002-64-6
50
Pancrelipase Approved, Investigational Phase 2, Phase 3 53608-75-6

Interventional clinical trials:

(show top 50) (show all 105)
# Name Status NCT ID Phase Drugs
1 Role of Sildenafil Citrate in Patients With Unexplained Recurrent Miscarriages: a Randomized Clinical Trial Unknown status NCT01419392 Phase 4 Sildenafil citrate;matching placebo
2 The Novel Immunomodulatory and Anticoagulant Therapies for Recurrent Pregnancy Loss Unknown status NCT02990403 Phase 4 Aspirin;Heparin;Prednisone;Immunoglobulin;Dydrogesterone
3 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
4 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
5 Controlled Trial in Women With Recurrent Miscarriage of G-CSF Versus Placebo Completed NCT00772122 Phase 4 G-CSF;saline solution
6 Pr-conceptional Progesterone for Unexplained Recurrent Miscarriage Completed NCT01670929 Phase 4 Progesterone
7 EmbryoGen/ Blastgen for Couples With Implantation Problems or Previous Miscarriage Completed NCT02305420 Phase 4
8 Timing of Initiation of Low Molecular Weight Heparin Administration in Pregnant Women With Antiphospholipid Syndrome Completed NCT02326051 Phase 4 Enoxaparin;Enoxaparin
9 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
10 Use of Warfarin After the First Trimester in Pregnant Women With Antiphospholipid Syndrome Recruiting NCT02303171 Phase 4 Enoxaparin;Warfarin
11 A Randomized Controlled Trial of the Effect of Influenza Vaccination on Implantation and Pregnancy Rates After Donor Egg Recipient In-Vitro Fertilization Enrolling by invitation NCT02946177 Phase 4
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 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
16 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
17 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
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 Phase III Study Analyzing the Effectiveness of Dalteparin Therapy as Intervention in Recurrent Pregnancy Loss Completed NCT00400387 Phase 3 Fragmin P Forte (dalteparin sodium)
20 The Optimum Dose of Vaginal Misoprostol Prior to Office Hysteroscopy: Double Blind Randomized Controlled Trial Completed NCT01612065 Phase 3 Misoprostol;Misoprostol
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 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
23 A Randomized, Placebo-controlled, Double-blinded Study With GB-0998 for Unexplained Primary Recurrent Miscarriage Recruiting NCT02184741 Phase 3 GB-0998;Placebo
24 Prévention Des Fausses Couches Spontanées Répétées Par Hydroxychloroquine. Essai thérapeutique Multicentrique, randomisé, en Double Insu, Contre Placebo Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
25 Pregnancy Outcomes in Women With Unexplained Recurrent Pregnancy Loss Treated With Low Dose Aspirin and Unfractionated Heparin Recruiting NCT02144064 Phase 3 Heparin
26 Hydroxycloroquin (Plaquenil) Behandling af Gentagne Graviditetstab (Abortus Habitualis) - et Randomiseret, Dobbeltblindet, Placebo Kontrolleret Studium Recruiting NCT03305263 Phase 3 Hydroxychloroquine;Hydroxychloroquine placebo
27 Low Dose Prednisone Therapy in Women With Recurrent Pregnancy Loss Not yet recruiting NCT04558268 Phase 2, Phase 3 Prednisone;Progesterone
28 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;Skin test panel
29 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
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 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
32 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
33 Effect of IVIg on Pregnancy Rate of Patient With Recurrent Pregnancy Loss With Immunological Causes Completed NCT03174951 Phase 2 IVIg
34 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
35 Assessing the Endometrial Environment in Recurrent Pregnancy Loss and Unexplained Infertility Recruiting NCT03401918 Phase 2 Oral antibiotics and vaginal probiotics
36 Does Intravenous Immunoglobulin and Prednisolone Treatment Improve Success Rate in Women With Recurrent Pregnancy Loss After Assisted Reproductive Technology Treatment? Not yet recruiting NCT04701034 Phase 2 Human Intravenous Immunoglobulins, (Privigen (R), CLS Behring);Prednisolone Tablets;Human Albumin Solution;Placebo
37 RCT Assessing Hydroxychloroquine for Unexplained Recurrent Pregnancy Loss Withdrawn NCT02379650 Phase 2 Hydroxychloroquine (HCQ);Placebo
38 Intralipid Related Effect on NKcells in Patients With Unexplained Recurrent Spontaneous Abortions Unknown status NCT03132779 Phase 1 Intralipid
39 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
40 PAR Family Polymorphisms and Placental Invasion Disorders Unknown status NCT00425867
41 CXCL9 and CXCL11 Levels in Patients With Autoimmune Thyroiditis and Habitual Abortions Unknown status NCT01644318
42 Description of the Uterine Cavity in Patients With Recurrent Miscarriages Unknown status NCT02746588
43 The Role of Hydrosalpinx in Recurrent Miscarriage Unknown status NCT03703401
44 Dental Health in Recurrent Miscarriage Unknown status NCT03577314
45 Association Between Interleukin-10 Promoter-1082A/G Polymorphism With Idiopathic Recurrent Miscarriage Risk of Chinese Han Unknown status NCT02633475
46 Study on the Association Between Skewed X Chromosome Inactivation(SXCI) and Recurrent Miscarriage(RM) and the Possible Genetic Mechanism Unknown status NCT02504281
47 A Randomized Clinical Trial of Using Preconceptional Enoxaparin AND Low Dose Aspirin 81mg in Patient With Antiphospholipid Syndrome(APS) Unknown status NCT01661439 low molecular weight heparin (enoxeparine)
48 Use of Metabolomics for the Identification of Endometrial Biomarkers for Recurrent Pregnancy Loss and Reccurent Implantation Failure Following in Vitro Fertilization. Unknown status NCT03690830
49 The Effect of the Ovarian Reserve on the Recurrent Pregnancy Loss Unknown status NCT03009370
50 Insulin Resistance and Recurrent Abortion Unknown status NCT02088424

Search NIH Clinical Center for Pregnancy Loss, Recurrent 1

Cochrane evidence based reviews: abortion, habitual

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 29 F5

Anatomical Context for Pregnancy Loss, Recurrent 1

MalaCards organs/tissues related to Pregnancy Loss, Recurrent 1:

40
Placenta, Thyroid, Endothelial, Kidney, Skin, Heart, Liver

Publications for Pregnancy Loss, Recurrent 1

Articles related to Pregnancy Loss, Recurrent 1:

(show top 50) (show all 200)
# Title Authors PMID Year
1
Mutations in coagulation factors in women with unexplained late fetal loss. 6 57
11018168 2000
2
Human genetics. Bad blood by mutation. 57 6
8164730 1994
3
Deregulation of the serum- and glucocorticoid-inducible kinase SGK1 in the endometrium causes reproductive failure. 57
22001908 2011
4
Recurrent first trimester pregnancy loss: revised definitions and novel causes. 57
19779333 2009
5
Recurrent pregnancy loss: a disease of inflammation and coagulation. 57
19751318 2009
6
Genetics of pregnancy loss. 57
18303502 2008
7
Recurrent miscarriage. 57
16905025 2006
8
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 6
16493002 2006
9
R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation. 6
15638861 2005
10
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 6
15534175 2004
11
Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection. 57
15142124 2004
12
Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. 6
14996674 2004
13
Improved hemoglobin status and reduced menstrual blood loss among female carriers of factor V Leiden--an evolutionary advantage? 6
11686338 2001
14
Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. 6
10666427 2000
15
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 6
10494770 1999
16
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 6
10477778 1999
17
Double-homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis. 6
10507841 1999
18
Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome. 6
10328130 1999
19
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 6
10348711 1999
20
Budd-Chiari syndrome, portal vein and mesenteric vein thrombosis in a patient homozygous for factor V Leiden mutation treated by TIPS and thrombolysis. 6
9734642 1998
21
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. 6
9518910 1998
22
A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. 6
9454741 1998
23
Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism. 6
9459326 1998
24
Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. 6
9415695 1997
25
Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations. 6
9372726 1997
26
The prevalence of factor V Leiden (1691 G-->A) mutation in Turkey. 6
9339109 1997
27
Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. 6
9245936 1997
28
Inherited prethrombotic disorders and infectious purpura. 6
8822583 1996
29
HELLP syndrome associated with factor V R506Q mutation. 6
8616100 1996
30
Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C. 6
8566967 1996
31
Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. 6
7586244 1995
32
Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. 6
7877648 1995
33
High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis. 6
7803250 1994
34
Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. 6
8049422 1994
35
Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. 6
7911872 1994
36
Activated protein C resistance caused by Arg506Gln mutation in factor Va. 6
7910348 1994
37
Mutation in blood coagulation factor V associated with resistance to activated protein C. 6
8164741 1994
38
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. 57
7918041 1993
39
Factor XII (Hageman) deficiency in women with habitual abortion: new subpopulation of recurrent aborters? 57
8419231 1993
40
Maternal levels of pregnancy-specific beta 1-glycoprotein (SP-1) are elevated in pregnancies affected by Down's syndrome. 57
2971018 1988
41
Human trophoblast-lymphocyte cross-reactive (TLX) antigens define a new alloantigen system. 57
6648525 1983
42
Radioimmunoassay of SP1 (pregnancy-specific beta1-glycoprotein) in maternal blood and in amniotic fluid normal and pathologic pregnancies. 57
6787188 1981
43
Concentrations of pregnancy-specific beta 1-glycoprotein in maternal blood in normal pregnancy and in intrauterine growth retardation. 57
64859 1977
44
Supreme Court 2019-2020: Insanity, Discrimination, and DACA-And a Pandemic. 61
33145496 2020
45
Recent trends in the management of antiphospholipid syndrome (Hughes syndrome). 54
20200695 2010
46
Case-control study of a HLA-G 14-bp insertion-deletion polymorphism in women with recurrent miscarriages. 54
20017810 2010
47
[Genetic conditioned changes in activity of 5,10-methylenetetrahydrofolate reductase (MTHFR) and recurrent miscarriages]. 54
19943541 2009
48
Progesterone-induced blocking factor (PIBF) modulates cytokine production by lymphocytes from women with recurrent miscarriage or preterm delivery. 54
19371956 2009
49
Pregnancy outcome in women with factor V Leiden and recurrent miscarriage. 54
19522801 2009
50
Tumor necrosis factor alpha and lymphotoxin alpha haplotypes in idiopathic recurrent pregnancy loss. 54
18394614 2009

Variations for Pregnancy Loss, Recurrent 1

ClinVar genetic disease variations for Pregnancy Loss, Recurrent 1:

6
# 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 F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln) SNV risk factor 642 rs6025 GRCh37: 1:169519049-169519049
GRCh38: 1:169549811-169549811
3 CCDC68 NM_025214.3(CCDC68):c.775dup (p.Ser259fs) Duplication Likely pathogenic 812695 GRCh37: 18:52586515-52586516
GRCh38: 18:54919284-54919285
4 CBX3 NM_016587.4(CBX3):c.330+3A>G SNV Uncertain significance 812697 GRCh37: 7:26248178-26248178
GRCh38: 7:26208558-26208558
5 CENPH NM_022909.4(CENPH):c.635T>C (p.Ile212Thr) SNV Uncertain significance 812698 GRCh37: 5:68504170-68504170
GRCh38: 5:69208343-69208343
6 REXO4 NM_020385.4(REXO4):c.664C>T (p.Gln222Ter) SNV Uncertain significance 812699 GRCh37: 9:136277950-136277950
GRCh38: 9:133412830-133412830
7 PLK1 NM_005030.6(PLK1):c.128T>C (p.Val43Ala) SNV Uncertain significance 812701 GRCh37: 16:23690381-23690381
GRCh38: 16:23679060-23679060
8 F5 NM_000130.4(F5):c.5265A>G (p.Ile1755Met) SNV Uncertain significance 579171 rs41272455 GRCh37: 1:169499000-169499000
GRCh38: 1:169529762-169529762
9 PIF1 NM_001286496.2(PIF1):c.506C>T (p.Thr169Ile) SNV Uncertain significance 812694 GRCh37: 15:65116029-65116029
GRCh38: 15:64823830-64823830

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

Cellular components related to Pregnancy Loss, Recurrent 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.02 PIBF1 PAEP HLA-G F5 APOH

Sources for Pregnancy Loss, Recurrent 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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