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RPRGL1
MCID: PRG092
MIFTS: 40

Pregnancy Loss, Recurrent 1 (RPRGL1)

Categories: Fetal diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pregnancy Loss, Recurrent 1

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MalaCards integrated aliases for Pregnancy Loss, Recurrent 1:

Name: Pregnancy Loss, Recurrent 1 56
Rpl 56 73 17
Pregnancy Loss, Recurrent, Susceptibility to, 1 56 13
Abortion, Habitual 43 71
Rprgl1 56 73
Rprgl 56 73
Pregnancy Loss, Recurrent, Susceptibility to, Type 1 39
Fetal Loss, Recurrent, Susceptibility to 56
Abortion, Spontaneous, Recurrent 56
Spontaneous Recurrent Abortion 73
Recurrent Spontaneous Abortion 6
Pregnancy Loss, Recurrent, 1 73
Embryonic Loss, Recurrent 56
Recurrent Embryonic Loss 73
Miscarriage, Recurrent 56
Fetal Loss, Recurrent 56
Stillbirth, Recurrent 56
Recurrent Miscarriage 73
Miscarriage Recurrent 54
Recurrent Fetal Loss 73
Recurrent Stillbirth 73
Habitual Abortion 17

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
pregnancy loss, recurrent 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 614389
MeSH 43 D000026
MedGen 41 C3280670
SNOMED-CT via HPO 68 263681008
UMLS 71 C0000809
Sources

Summaries for Pregnancy Loss, Recurrent 1

About this section
OMIM : 56 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)

MalaCards based summary : Pregnancy Loss, Recurrent 1, also known as rpl, is related to factor xii deficiency and thrombophilia. An important gene associated with Pregnancy Loss, Recurrent 1 is F5 (Coagulation Factor V). The drugs Sodium citrate and Enoxaparin have been mentioned in the context of this disorder. Affiliated tissues include testes, thyroid and skin, and related phenotype is recurrent spontaneous abortion.

UniProtKB/Swiss-Prot : 73 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 : 74 Recurrent miscarriage is two or more consecutive pregnancy losses. In contrast, infertility is the... more...

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Related Diseases for Pregnancy Loss, Recurrent 1

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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 293)
# Related Disease Score Top Affiliating Genes
1 factor xii deficiency 29.9 F5 APOH
2 thrombophilia 29.8 MTHFR F5 APOH
3 thrombophilia due to activated protein c resistance 29.8 MTHFR F5 APOH
4 hellp syndrome 29.7 MTHFR F5 APOH
5 thrombosis 29.7 MTHFR F5 APOH
6 protein s deficiency 29.7 MTHFR F5 APOH
7 thrombophilia due to thrombin defect 29.6 MTHFR F5 APOH
8 sudden sensorineural hearing loss 29.6 MTHFR F5 APOH
9 antithrombin iii deficiency 29.5 MTHFR F5 APOH
10 protein c deficiency 29.5 MTHFR F5 APOH
11 homocysteinemia 29.5 MTHFR F5 APOH
12 vascular disease 29.4 MTHFR F5 APOH
13 severe pre-eclampsia 29.4 HLA-G F5 APOH
14 antiphospholipid syndrome 29.3 MTHFR F5 APOH
15 thrombophlebitis 29.3 MTHFR F5 APOH
16 budd-chiari syndrome 29.3 MTHFR F5 APOH
17 eclampsia 29.2 MTHFR HLA-G APOH
18 cerebrovascular disease 29.0 MTHFR HOTAIR F5 APOH
19 stroke, ischemic 28.9 MTHFR F5 APOH
20 placenta disease 28.9 MTHFR HLA-G F5 APOH
21 placental abruption 28.3 PIBF1 MTHFR HLA-G F5 APOH
22 pre-eclampsia 28.0 MTHFR HOTAIR HLA-G F5 APOH
23 pregnancy loss, recurrent 2 11.5
24 pregnancy loss, recurrent 3 11.5
25 factor xiii deficiency 11.5
26 lymphatic malformation 8 11.2
27 factor v leiden thrombophilia 11.2
28 diethylstilbestrol syndrome 11.2
29 antiphospholipid syndrome, familial 11.1
30 uterine anomalies 10.4
31 may-thurner syndrome 10.2 F5 APOH
32 cytokine deficiency 10.2
33 acanthamoeba keratitis 10.2 F5 APOH
34 prothrombin-related thrombophilia 10.2
35 chromosomal triplication 10.2
36 prothrombin deficiency, congenital 10.2 F5 APOH
37 systemic lupus erythematosus 10.2
38 cholera 10.2
39 choriocarcinoma 10.2
40 lupus erythematosus 10.2
41 arteritic anterior ischemic optic neuropathy 10.2 MTHFR F5
42 sneddon syndrome 10.1 F5 APOH
43 amaurosis fugax 10.1 MTHFR F5
44 ischemic colitis 10.1 F5 APOH
45 endometritis 10.1
46 carotid artery occlusion 10.1 F5 APOH
47 cryptogenic cirrhosis 10.1 MTHFR F5
48 peripheral vertigo 10.1 F5 APOH
49 thrombasthenia 10.1 MTHFR F5
50 purpura fulminans 10.1 F5 APOH

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



Diseases related to Pregnancy Loss, Recurrent 1
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Symptoms & Phenotypes for Pregnancy Loss, Recurrent 1

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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:

56
Genitourinary Internal Genitalia Female:
spontaneous abortion, recurrent
fetal loss after 20 weeks or more of gestation

Clinical features from OMIM:

614389
Sources

Drugs & Therapeutics for Pregnancy Loss, Recurrent 1

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

(show top 50) (show all 170)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Enoxaparin Approved Phase 4 9005-49-6 772
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Nitric Oxide Approved Phase 4 10102-43-9 145068
5
Lenograstim Approved, Investigational Phase 4 135968-09-1
6
Warfarin Approved Phase 4 81-81-2 6691 54678486
7
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
8
Polyestradiol phosphate Approved Phase 4 28014-46-2
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
10 Immunoglobulins, Intravenous Phase 4
11 Citrate Phase 4
12 Phosphodiesterase 5 Inhibitors Phase 4
13 Phosphodiesterase Inhibitors Phase 4
14 Sildenafil Citrate Phase 4 171599-83-0
15 Hypoglycemic Agents Phase 4
16 Immunologic Factors Phase 4
17 Pharmaceutical Solutions Phase 4
18 Adjuvants, Immunologic Phase 4
19 Parenteral Nutrition Solutions Phase 4
20 Fat Emulsions, Intravenous Phase 4
21 Soybean oil, phospholipid emulsion Phase 4
22 Soy Bean Phase 4
23 Hormone Antagonists Phase 4
24 Hormones Phase 4
25 Progestins Phase 4
26 Vaccines Phase 4
27 Estradiol 17 beta-cypionate Phase 4
28 Estradiol 3-benzoate Phase 4
29 Estrogens Phase 4
30 Contraceptive Agents Phase 4
31
Clopidogrel Approved Phase 2, Phase 3 113665-84-2, 120202-66-6 60606
32
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
33
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
34
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
35
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
36
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
37
Dalteparin Approved Phase 3 9005-49-6
38
Aspirin Approved, Vet_approved Phase 2, Phase 3 50-78-2 2244
39
Misoprostol Approved Phase 3 59122-46-2 5282381
40
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
41
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
42
Salicylic acid Approved, Investigational, Vet_approved Phase 2, Phase 3 69-72-7 338
43
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
44
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
45
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
46
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
47 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
48
Hydroxychloroquine Approved Phase 3 118-42-3 3652
49
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
50
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 59-43-8, 70-16-6 1130

Interventional clinical trials:

(show top 50) (show all 122)
# Name Status NCT ID Phase Drugs
1 Phase 4 Study of Effectiveness of Metformin in Patients With Unexplained Recurrent Miscarriages Unknown status NCT01718340 Phase 4 Metformin
2 Role of Sildenafil Citrate in Patients With Unexplained Recurrent Miscarriages: a Randomized Clinical Trial Unknown status NCT01419392 Phase 4 Sildenafil citrate;matching placebo
3 The Novel Immunomodulatory and Anticoagulant Therapies for Recurrent Pregnancy Loss Unknown status NCT02990403 Phase 4 Aspirin;Heparin;Prednisone;Immunoglobulin;Dydrogesterone
4 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
5 Phase 4 Study of the Efficacy of Intralipid Treatment in Patients With Recurrent Implantation Failure and Miscarriages With High Peripheral and Uterine Natural Killer Cells Unknown status NCT01679561 Phase 4 intralipid
6 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
7 Controlled Trial in Women With Recurrent Miscarriage of G-CSF Versus Placebo Completed NCT00772122 Phase 4 G-CSF;saline solution
8 Pr-conceptional Progesterone for Unexplained Recurrent Miscarriage Completed NCT01670929 Phase 4 Progesterone
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 Timing of Initiation of Low Molecular Weight Heparin Administration in Pregnant Women With Antiphospholipid Syndrome Completed NCT02326051 Phase 4 Enoxaparin;Enoxaparin
11 EmbryoGen/ Blastgen for Couples With Implantation Problems or Previous Miscarriage Completed NCT02305420 Phase 4
12 Use of Warfarin After the First Trimester in Pregnant Women With Antiphospholipid Syndrome Recruiting NCT02303171 Phase 4 Enoxaparin;Warfarin
13 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
14 A Randomized Controlled Trial of the Effect of Influenza Vaccination on Implantation and Pregnancy Rates After In-Vitro Fertilization Enrolling by invitation NCT02947217 Phase 4
15 The Effect of Estrogen in the Prevention of Adhesion Reformation After Hysteroscopic Adhesiolysis Enrolling by invitation NCT03620929 Phase 4 Estradiol Valerate
16 A Randomized, Controlled Trial of Cyclosporin A for Women With Unexplained Recurrent Miscarriage Unknown status NCT02706470 Phase 2, Phase 3 Cyclosporin A;Dydrogesterone
17 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
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 Randomized, Placebo-controlled, Double-blind Trial of Intravenous Immunoglobulin for Women With Unexplained Secondary Recurrent Miscarriage Completed NCT00722475 Phase 3 Intravenous immunoglobulin;Human albumin
20 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
21 The Optimum Dose of Vaginal Misoprostol Prior to Office Hysteroscopy: Double Blind Randomized Controlled Trial Completed NCT01612065 Phase 3 Misoprostol;Misoprostol
22 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
23 Phase III Study Analyzing the Effectiveness of Dalteparin Therapy as Intervention in Recurrent Pregnancy Loss Completed NCT00400387 Phase 3 Fragmin P Forte (dalteparin sodium)
24 The Value of Addition of Prednisolone to Acetylsalicylic Acid Prior to Embryo Transfer in Patients With First ICSI Cycles: A Randomized Controlled Trial Completed NCT03503227 Phase 2, Phase 3 prednisolone;Acetyl Salicylic acid
25 Preventing Health Disparities During Pregnancy Through Vitamin D Supplementation Completed NCT01932788 Phase 3 Vitamin D3 4000 IU in gummy form;Placebo gummy vitamin
26 A Randomized, Placebo-controlled, Double-blinded Study With GB-0998 for Unexplained Primary Recurrent Miscarriage Recruiting NCT02184741 Phase 3 GB-0998;Placebo
27 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
28 Prévention Des Fausses Couches Spontanées Répétées Par Hydroxychloroquine. Essai thérapeutique Multicentrique, randomisé, en Double Insu, Contre Placebo Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
29 Pregnancy Outcomes in Women With Unexplained Recurrent Pregnancy Loss Treated With Low Dose Aspirin and Unfractionated Heparin Recruiting NCT02144064 Phase 3 Heparin
30 Hydroxycloroquin (Plaquenil) Behandling af Gentagne Graviditetstab (Abortus Habitualis) - et Randomiseret, Dobbeltblindet, Placebo Kontrolleret Studium Recruiting NCT03305263 Phase 3 Hydroxychloroquine;Hydroxychloroquine placebo
31 Essai thérapeutique randomisé Multicentrique en Double Insu, Comparant l'énoxaparine 40mg Versus Placebo, en Une Injection Sous-cutanée Quotidienne, Dans Les Fausses Couches spontanées récurrentes inexpliquées Terminated NCT00740545 Phase 3 enoxaparine 40 mg daily;placebo
32 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
33 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
34 A Preliminary Study About Unexplained Recurrent Miscarriage and Repeated Implantation Failure Patients Treated With Low-dose Lymphocyte Immunotherapy Completed NCT03081325 Phase 1, Phase 2
35 Effect of IVIg on Pregnancy Rate of Patient With Recurrent Pregnancy Loss With Immunological Causes Completed NCT03174951 Phase 2 IVIg
36 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
37 Three Dimensional Trans-vaginal Ultrasound to Reevaluate Arcuate Uteri Diagnosed by Hystro-salpingography Completed NCT02597816 Phase 2
38 Regulatory T-cell Induction by Low-dose Interleukin-2 in Women With Unexplained Repeated Spontaneous Early Miscarriages Not yet recruiting NCT03970954 Phase 1, Phase 2 low-dose IL-2
39 Assessing the Endometrial Environment in Recurrent Pregnancy Loss and Unexplained Infertility Suspended NCT03401918 Phase 2 Oral antibiotics and vaginal probiotics
40 RCT Assessing Hydroxychloroquine for Unexplained Recurrent Pregnancy Loss Withdrawn NCT02379650 Phase 2 Hydroxychloroquine (HCQ);Placebo
41 Intralipid Related Effect on NKcells in Patients With Unexplained Recurrent Spontaneous Abortions Unknown status NCT03132779 Phase 1 Intralipid
42 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
43 Study on the Association Between Skewed X Chromosome Inactivation(SXCI) and Recurrent Miscarriage(RM) and the Possible Genetic Mechanism Unknown status NCT02504281
44 CXCL9 and CXCL11 Levels in Patients With Autoimmune Thyroiditis and Habitual Abortions Unknown status NCT01644318
45 PAR Family Polymorphisms and Placental Invasion Disorders Unknown status NCT00425867
46 Association Between Interleukin-10 Promoter-1082A/G Polymorphism With Idiopathic Recurrent Miscarriage Risk of Chinese Han Unknown status NCT02633475
47 Shanghai First Maternity and Infant Hospital Unknown status NCT02990390
48 Insulin Resistance and Recurrent Abortion Unknown status NCT02088424
49 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)
50 Different Regulation of Immune Cells in Patients With Preeclampsia Unknown status NCT02691364

Search NIH Clinical Center for Pregnancy Loss, Recurrent 1

Cochrane evidence based reviews: abortion, habitual

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Genetic Tests for Pregnancy Loss, Recurrent 1

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Anatomical Context for Pregnancy Loss, Recurrent 1

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

40
Testes, Thyroid, Skin, Endothelial, T Cells, Placenta, Nk Cells
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Publications for Pregnancy Loss, Recurrent 1

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Articles related to Pregnancy Loss, Recurrent 1:

(show top 50) (show all 199)
# Title Authors PMID Year
1
Mutations in coagulation factors in women with unexplained late fetal loss. 6 56
11018168 2000
2
Human genetics. Bad blood by mutation. 56 6
8164730 1994
3
Deregulation of the serum- and glucocorticoid-inducible kinase SGK1 in the endometrium causes reproductive failure. 56
22001908 2011
4
Recurrent first trimester pregnancy loss: revised definitions and novel causes. 56
19779333 2009
5
Recurrent pregnancy loss: a disease of inflammation and coagulation. 56
19751318 2009
6
Genetics of pregnancy loss. 56
18303502 2008
7
Recurrent miscarriage. 56
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. 56
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
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 6
10477778 1999
16
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 6
10494770 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
Mutation in blood coagulation factor V associated with resistance to activated protein C. 6
8164741 1994
37
Activated protein C resistance caused by Arg506Gln mutation in factor Va. 6
7910348 1994
38
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. 56
7918041 1993
39
Factor XII (Hageman) deficiency in women with habitual abortion: new subpopulation of recurrent aborters? 56
8419231 1993
40
Maternal levels of pregnancy-specific beta 1-glycoprotein (SP-1) are elevated in pregnancies affected by Down's syndrome. 56
2971018 1988
41
Human trophoblast-lymphocyte cross-reactive (TLX) antigens define a new alloantigen system. 56
6648525 1983
42
Radioimmunoassay of SP1 (pregnancy-specific beta1-glycoprotein) in maternal blood and in amniotic fluid normal and pathologic pregnancies. 56
6787188 1981
43
Concentrations of pregnancy-specific beta 1-glycoprotein in maternal blood in normal pregnancy and in intrauterine growth retardation. 56
64859 1977
44
Recent trends in the management of antiphospholipid syndrome (Hughes syndrome). 54
20200695 2010
45
Case-control study of a HLA-G 14-bp insertion-deletion polymorphism in women with recurrent miscarriages. 54
20017810 2010
46
[Genetic conditioned changes in activity of 5,10-methylenetetrahydrofolate reductase (MTHFR) and recurrent miscarriages]. 54
19943541 2009
47
Pregnancy outcome in women with factor V Leiden and recurrent miscarriage. 54
19522801 2009
48
Progesterone-induced blocking factor (PIBF) modulates cytokine production by lymphocytes from women with recurrent miscarriage or preterm delivery. 54
19371956 2009
49
Tumor necrosis factor alpha and lymphotoxin alpha haplotypes in idiopathic recurrent pregnancy loss. 54
18394614 2009
50
Pravastatin prevents miscarriages in mice: role of tissue factor in placental and fetal injury. 54
19234141 2009
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Variations for Pregnancy Loss, Recurrent 1

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ClinVar genetic disease variations for Pregnancy Loss, Recurrent 1:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCNB3 NM_033031.3(CCNB3):c.3752T>A (p.Val1251Asp)SNV Pathogenic 619178 X:50089748-50089748 X:50346749-50346749
2 NC_000009.11:g.12246100_101559378invinversion Likely pathogenic 694460
3 F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln)SNV risk factor 642 rs6025 1:169519049-169519049 1:169549811-169549811
4 F5 NM_000130.4(F5):c.5265A>G (p.Ile1755Met)SNV Uncertain significance 579171 rs41272455 1:169499000-169499000 1:169529762-169529762
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Expression for Pregnancy Loss, Recurrent 1

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

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GO Terms for Pregnancy Loss, Recurrent 1

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Sources for Pregnancy Loss, Recurrent 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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