Pregnancy Loss, Recurrent 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RPRGL1 MCID: PRG092 MIFTS: 45	Pregnancy Loss, Recurrent 1 (RPRGL1) Categories: Fetal diseases, Genetic diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614389

MeSH ⁴³ D000026

MedGen ⁴⁰ C3280670

EFO ¹⁶ EFO_0008899

UMLS ⁷¹ C0000809

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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...

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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:

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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)

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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

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Dydrogesterone

Approved, Investigational, Withdrawn

Phase 4

152-62-5

9051

Warfarin

Approved

Phase 4

81-81-2, 129-06-6

54678486

Lenograstim

Approved, Investigational

Phase 4

135968-09-1

Levoleucovorin

Approved, Experimental, Investigational

Phase 4

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Sargramostim

Approved, Investigational

Phase 4

123774-72-1

Vaccines

Phase 4

Hematinics

Phase 4

Parenteral Nutrition Solutions

Phase 4

Fat Emulsions, Intravenous

Phase 4

Soybean oil, phospholipid emulsion

Phase 4

Soy Bean

Phase 4

Miconazole

Approved, Investigational, Vet_approved

Phase 2, Phase 3

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 2, Phase 3

23593-75-1

2812

Parathyroid hormone

Approved, Investigational

Phase 2, Phase 3

9002-64-6

Pancrelipase

Approved, Investigational

Phase 2, Phase 3

53608-75-6

8519

Benzocaine

Approved, Investigational

Phase 2, Phase 3

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 2, Phase 3

1401-55-4

16129878 16129778

Orange

Approved

Phase 2, Phase 3

Clopidogrel

Approved

Phase 2, Phase 3

120202-66-6, 113665-84-2

60606

Mecobalamin

Approved, Investigational

Phase 3

13422-55-4

Hydroxocobalamin

Approved

Phase 3

13422-51-0

15589840 44475014

Tocopherol

Approved, Investigational

Phase 3

1406-66-2

Misoprostol

Approved

Phase 3

59122-46-2

5282381

Prednisolone phosphate

Approved, Vet_approved

Phase 3

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 3

52-21-1

Prednisolone

Approved, Vet_approved

Phase 3

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 3

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 3

83-43-2

4159 6741

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 2, Phase 3

67-97-0, 1406-16-2

5280795 10883523

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

DL-alpha-Tocopherol

Approved, Experimental, Investigational, Nutraceutical, Vet_approved

Phase 3

59-02-9, 10191-41-0

2116 14985

Pyridoxine

Approved, Investigational, Nutraceutical, Vet_approved

Phase 3

65-23-6

1054

Cyanocobalamin

Approved, Nutraceutical

Phase 3

68-19-9

24892734 16212801 44176380

Biotin

Approved, Investigational, Nutraceutical

Phase 3

58-85-5

253 171548

Thiamine

Approved, Investigational, Nutraceutical, Vet_approved

Phase 3

70-16-6

1130

Riboflavin

Approved, Investigational, Nutraceutical, Vet_approved

Phase 3

83-88-5

493570

Cobalamin

Experimental

Phase 3

13408-78-1

6857388

Tocotrienol

Investigational

Phase 3

6829-55-6

9929901

Prednisolone hemisuccinate

Experimental

Phase 3

2920-86-7

4897

Immunosuppressive Agents

Phase 2, Phase 3

Calcineurin Inhibitors

Phase 2, Phase 3

Cyclosporins

Phase 2, Phase 3

Antifungal Agents

Phase 2, Phase 3

Chorionic Gonadotropin

Phase 2, Phase 3

Liver Extracts

Phase 2, Phase 3

Iron Supplement

Phase 2, Phase 3

Calciferol

Phase 2, Phase 3

Pancreatin

Phase 2, Phase 3

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

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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

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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

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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	Martinelli I...Mannucci PM	11018168	2000
2	Human genetics. Bad blood by mutation. ⁵⁷ ⁵	Majerus PW	8164730	1994
3	Recurrent Pregnancy Loss and Concealed Long-QT Syndrome. ⁶² ⁵	Kasak L...Laan M	34398675	2021
4	Recurrent miscarriage. ⁶² ⁵⁷	Rai R...Regan L	16905025	2006
5	Deregulation of the serum- and glucocorticoid-inducible kinase SGK1 in the endometrium causes reproductive failure. ⁵⁷	Salker MS...Brosens JJ	22001908	2011
6	Recurrent first trimester pregnancy loss: revised definitions and novel causes. ⁵⁷	Allison JL...Schust DJ	19779333	2009
7	Recurrent pregnancy loss: a disease of inflammation and coagulation. ⁵⁷	Kwak-Kim J...Gilman-Sachs A	19751318	2009
8	Genetics of pregnancy loss. ⁵⁷	Warren JE...Silver RM	18303502	2008
9	Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. ⁵	Zivelin A...Seligsohn U	16493002	2006
10	R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation. ⁵	Kemkes-Matthes B...Ichinose A	15638861	2005
11	Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. ⁵	Casas JP...Sharma P	15534175	2004
12	Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection. ⁵⁷	Hellberg A...Olsson ML	15142124	2004
13	Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. ⁵	Juul K...Nordestgaard BG	14996674	2004
14	Improved hemoglobin status and reduced menstrual blood loss among female carriers of factor V Leiden--an evolutionary advantage? ⁵	Lindqvist PG...Dahlback B	11686338	2001
15	Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. ⁵	Gerhardt A...Zotz RB	10666427	2000
16	The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. ⁵	De Stefano V...Leone G	10477778	1999
17	Double-homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis. ⁵	Mainardi JR...Hamulyak K	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	Zehnder JL...Grumet FC	10494770	1999
19	Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome. ⁵	Gurakan F...Kocak N	10328130	1999
20	Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. ⁵	Meyer M...Vogel G	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	Leebeek FW...Sonneveld P	9734642	1998
22	A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. ⁵	Chan WP...Liang R	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	de Bruijn SF...Vandenbroucke JP	9518910	1998
24	Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism. ⁵	Lindqvist PG...Marsal K	9459326	1998
25	Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. ⁵	Gregg JP...Grody WW	9415695	1997
26	Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations. ⁵	Talmon T...Brenner B	9372726	1997
27	The prevalence of factor V Leiden (1691 G-->A) mutation in Turkey. ⁵	Gurgey A...Mesci L	9339109	1997
28	Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. ⁵	Mahmoud AE...Wilde JT	9245936	1997
29	Inherited prethrombotic disorders and infectious purpura. ⁵	Westendorp RG...Bertina RM	8822583	1996
30	HELLP syndrome associated with factor V R506Q mutation. ⁵	Brenner B...Thaler I	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	Braun A...Rosche AA	8566967	1996
32	Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. ⁵	Ridker PM...Hennekens CH	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	Ridker PM...Miletich JP	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	Beauchamp NJ...Peake IR	7803250	1994
35	Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. ⁵	Koeleman BP...Bertina RM	8049422	1994
36	Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. ⁵	Voorberg J...van Mourik JA	7911872	1994
37	Mutation in blood coagulation factor V associated with resistance to activated protein C. ⁵	Bertina RM...Reitsma PH	8164741	1994
38	Activated protein C resistance caused by Arg506Gln mutation in factor Va. ⁵	Greengard JS...Evatt B	7910348	1994
39	Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. ⁵⁷	Standen GR...Bowen DJ	7918041	1993
40	Factor XII (Hageman) deficiency in women with habitual abortion: new subpopulation of recurrent aborters? ⁵⁷	Braulke I...Gunther E	8419231	1993
41	Maternal levels of pregnancy-specific beta 1-glycoprotein (SP-1) are elevated in pregnancies affected by Down's syndrome. ⁵⁷	Bartels I...Lindemann A	2971018	1988
42	Human trophoblast-lymphocyte cross-reactive (TLX) antigens define a new alloantigen system. ⁵⁷	McIntyre JA...Colliver JA	6648525	1983
43	Radioimmunoassay of SP1 (pregnancy-specific beta1-glycoprotein) in maternal blood and in amniotic fluid normal and pathologic pregnancies. ⁵⁷	Wurz H...Luben G	6787188	1981
44	Concentrations of pregnancy-specific beta 1-glycoprotein in maternal blood in normal pregnancy and in intrauterine growth retardation. ⁵⁷	Gordon YP...Chard T	64859	1977
45	Case-control study of a HLA-G 14-bp insertion-deletion polymorphism in women with recurrent miscarriages. ⁵³ ⁶²	Zhu Y...Jin C	20017810	2010
46	Progesterone-induced blocking factor (PIBF) modulates cytokine production by lymphocytes from women with recurrent miscarriage or preterm delivery. ⁵³ ⁶²	Raghupathy R...Szekeres-Bartho J	19371956	2009
47	Pregnancy outcome in women with factor V Leiden and recurrent miscarriage. ⁵³ ⁶²	Jivraj S...Li TC	19522801	2009
48	Tumor necrosis factor alpha and lymphotoxin alpha haplotypes in idiopathic recurrent pregnancy loss. ⁵³ ⁶²	Zammiti W...Mahjoub T	18394614	2009
49	Pravastatin prevents miscarriages in mice: role of tissue factor in placental and fetal injury. ⁵³ ⁶²	Redecha P...Girardi G	19234141	2009
50	Aspirin or anticoagulants for treating recurrent miscarriage in women without antiphospholipid syndrome. ⁵³ ⁶²	Kaandorp S...Middeldorp S	19160241	2009

Sources

Genes for Pregnancy Loss, Recurrent 1

Genes related to Pregnancy Loss, Recurrent 1 (3 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	F5	Coagulation Factor V	Protein Coding	691.77	Molecular basis known ⁵⁷ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Risk factor ⁵ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	8164741 7910348 7911872 (more) 7803250 7877648 7586244 8616100 8822583 9518910 10666427 14996674 15638861 15534175 9245936 9734642 10328130 11018168 16493002 9459326 11686338 10494770 8049422 9372726 10477778 10507841 10348711 8164730 8566967 9415695 9339109 9454741 10655323 10574639 15064543 15852745 11843387 19522801 12845741 9350638 11331645 10374122 12202447 12956845 9539549 11056246 9763596 18160599 17640947 12738509 19230252 11785358 11821292 10527966 16418978
2	CCNB3	Cyclin B3	Protein Coding	400	Pathogenic ⁵
3	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	400	Pathogenic ⁵	34398675
4	HOTAIR	HOX Transcript Antisense RNA	RNA Gene	150	Experimental evidence: Expression ³⁷	28750739
5	YY1	YY1 Transcription Factor	Protein Coding	150	Experimental evidence: Expression ³⁷	28750739
6	CCDC68	Coiled-Coil Domain Containing 68	Protein Coding	25	Likely pathogenic ⁵
7	APOH	Apolipoprotein H	Protein Coding	10.85	Novoseek inferred ⁵³	9207584 12596957 2283959 (more) 8567830 8941058 7950946 15774545 1486165 11776160 16129928 9886508 10374703 1624007 9402269 11950192 17670848 16707507 12632426 10924534 10374122 10097791 9796352 8822463 1303678 2372331 17362388 16047856 15185522 12386730 17589092 12436152 11506839 10823270 10360918 20200695 16501426 12764350 1575592 9022487 7778573 8310361 19090981 19160241 15605215 12934406 7818777 12824948 9583454 14669420 15449074 10426674 17576401 2121157
8	PIBF1	Progesterone Immunomodulatory Binding Factor 1	Protein Coding	9.04	Novoseek inferred ⁵³	19371956
9	PAEP	Progestagen Associated Endometrial Protein	Protein Coding	8.68	Novoseek inferred ⁵³	9853880 8567792 17049713 (more) 7890064 19227277
10	HLA-G	Major Histocompatibility Complex, Class I, G	Protein Coding	8.58	Novoseek inferred ⁵³	16514201 11925408 18480096 (more) 10102087 10399132 20017810 9894564 15191524 12721954
11	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	7.57	Novoseek inferred ⁵³	11899543 10452905 15952099 (more) 19943541 9687553 12738509 12956845 18160599 10233370 10655323 11056246

Sources

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