RPRGL2
MCID: PRG096
MIFTS: 17

Pregnancy Loss, Recurrent 2 (RPRGL2)

Categories: Fetal diseases, Genetic diseases

Aliases & Classifications for Pregnancy Loss, Recurrent 2

MalaCards integrated aliases for Pregnancy Loss, Recurrent 2:

Name: Pregnancy Loss, Recurrent 2 57
Pregnancy Loss, Recurrent, Susceptibility to, 2 57 29 13 6
Rprgl2 57 72
Pregnancy Loss, Recurrent, Susceptibility to, Type 2 39
Pregnancy Loss, Recurrent, 2 72

Characteristics:

OMIM®:

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


HPO:

31
pregnancy loss, recurrent 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614390
MeSH 44 D000026
MedGen 41 C3280672
SNOMED-CT via HPO 68 263681008

Summaries for Pregnancy Loss, Recurrent 2

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 recurrent pregnancy loss 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). (614390) (Updated 20-May-2021)

MalaCards based summary : Pregnancy Loss, Recurrent 2, is also known as pregnancy loss, recurrent, susceptibility to, 2. An important gene associated with Pregnancy Loss, Recurrent 2 is F2 (Coagulation Factor II, Thrombin). Affiliated tissues include whole blood, and related phenotype is recurrent spontaneous abortion.

UniProtKB/Swiss-Prot : 72 Pregnancy loss, recurrent, 2: 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.

Related Diseases for Pregnancy Loss, Recurrent 2

Diseases in the Pregnancy Loss, Recurrent 1 family:

Pregnancy Loss, Recurrent 2 Pregnancy Loss, Recurrent 3

Symptoms & Phenotypes for Pregnancy Loss, Recurrent 2

Human phenotypes related to Pregnancy Loss, Recurrent 2:

31 (showing 1, show less)
# 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

Clinical features from OMIM®:

614390 (Updated 20-May-2021)

Drugs & Therapeutics for Pregnancy Loss, Recurrent 2

Search Clinical Trials , NIH Clinical Center for Pregnancy Loss, Recurrent 2

Genetic Tests for Pregnancy Loss, Recurrent 2

Genetic tests related to Pregnancy Loss, Recurrent 2:

# Genetic test Affiliating Genes
1 Pregnancy Loss, Recurrent, Susceptibility to, 2 29 F2

Anatomical Context for Pregnancy Loss, Recurrent 2

MalaCards organs/tissues related to Pregnancy Loss, Recurrent 2:

40
Whole Blood

Publications for Pregnancy Loss, Recurrent 2

Articles related to Pregnancy Loss, Recurrent 2:

(showing 27, show less)
# Title Authors PMID Year
1
Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester. 6 57
11506076 2001
2
Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. 6
19531787 2009
3
Genetics of pregnancy loss. 57
18303502 2008
4
Recurrent miscarriage. 57
16905025 2006
5
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 6
16493002 2006
6
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 6
15534175 2004
7
Unilateral chronic thromboembolic pulmonary disease associated with combined inherited thrombophilia. 6
11796466 2002
8
Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia. 6
11443298 2001
9
Budd-Chiari syndrome in a patient heterozygous for both factor V Leiden and the G20210A mutation on the prothrombin gene. 6
10544935 1999
10
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 6
10477778 1999
11
Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism. 6
10406905 1999
12
The 20210A allele of the prothrombin gene is an independent risk factor for perception deafness in patients with venous thromboembolic antecedents. 6
10336270 1999
13
Born to clot: the European burden. 6
10233439 1999
14
Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family. 6
10233438 1999
15
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 6
10348711 1999
16
Frequent factor II G20210A mutation in idiopathic portal vein thrombosis. 6
9869612 1999
17
The 20210 G to A prothrombin polymorphism and late complications in type 1 diabetes mellitus. 6
10348712 1999
18
The 20210 G-->A mutation in the 3'-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease. 6
10027711 1999
19
The prevalence of the prothrombin 20210 G-->A mutation is not increased in angiographically confirmed coronary artery disease. 6
10348710 1999
20
A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. 6
9694698 1998
21
Geographic distribution of the 20210 G to A prothrombin variant. 6
9569177 1998
22
Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. 6
9531249 1998
23
Budd-Chiari syndrome in a patient heterozygous for the G20210A mutation of the prothrombin gene. 6
9493607 1998
24
A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. 6
9292507 1997
25
A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. 6
8916933 1996
26
Characterization of the cDNA coding for mouse prothrombin and localization of the gene on mouse chromosome 2. 6
2222810 1990
27
Characterization of the complementary deoxyribonucleic acid and gene coding for human prothrombin. 6
6305407 1983

Variations for Pregnancy Loss, Recurrent 2

ClinVar genetic disease variations for Pregnancy Loss, Recurrent 2:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F2 NM_000506.5(F2):c.*97G>A SNV Uncertain significance 13310 rs1799963 GRCh37: 11:46761055-46761055
GRCh38: 11:46739505-46739505

Expression for Pregnancy Loss, Recurrent 2

Search GEO for disease gene expression data for Pregnancy Loss, Recurrent 2.

Pathways for Pregnancy Loss, Recurrent 2

GO Terms for Pregnancy Loss, Recurrent 2

Sources for Pregnancy Loss, Recurrent 2

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
Content
Loading form....