RPRGL3
MCID: PRG093
MIFTS: 18

Pregnancy Loss, Recurrent 3 (RPRGL3)

Categories: Fetal diseases, Genetic diseases

Aliases & Classifications for Pregnancy Loss, Recurrent 3

MalaCards integrated aliases for Pregnancy Loss, Recurrent 3:

Name: Pregnancy Loss, Recurrent 3 57
Pregnancy Loss, Recurrent, Susceptibility to, 3 57 29 13 6
Rprgl3 57 72
Pregnancy Loss, Recurrent, Susceptibility to, Type 3 39
Pregnancy Loss, Recurrent, 3 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
pregnancy loss, recurrent 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614391
MeSH 44 D000026
MedGen 41 C3280674
SNOMED-CT via HPO 68 263681008

Summaries for Pregnancy Loss, Recurrent 3

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). (614391) (Updated 05-Apr-2021)

MalaCards based summary : Pregnancy Loss, Recurrent 3, also known as pregnancy loss, recurrent, susceptibility to, 3, is related to thrombophilia and placenta disease. An important gene associated with Pregnancy Loss, Recurrent 3 is ANXA5 (Annexin A5). Related phenotypes are recurrent spontaneous abortion and normal

UniProtKB/Swiss-Prot : 72 Pregnancy loss, recurrent, 3: 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 3

Diseases in the Pregnancy Loss, Recurrent 1 family:

Pregnancy Loss, Recurrent 2 Pregnancy Loss, Recurrent 3

Diseases related to Pregnancy Loss, Recurrent 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thrombophilia 9.9
2 placenta disease 9.9

Symptoms & Phenotypes for Pregnancy Loss, Recurrent 3

Human phenotypes related to Pregnancy Loss, Recurrent 3:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
spontaneous abortion, recurrent

Clinical features from OMIM®:

614391 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Pregnancy Loss, Recurrent 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.62 ANXA5 ASIC5

Drugs & Therapeutics for Pregnancy Loss, Recurrent 3

Search Clinical Trials , NIH Clinical Center for Pregnancy Loss, Recurrent 3

Genetic Tests for Pregnancy Loss, Recurrent 3

Genetic tests related to Pregnancy Loss, Recurrent 3:

# Genetic test Affiliating Genes
1 Pregnancy Loss, Recurrent, Susceptibility to, 3 29 ANXA5

Anatomical Context for Pregnancy Loss, Recurrent 3

Publications for Pregnancy Loss, Recurrent 3

Articles related to Pregnancy Loss, Recurrent 3:

# Title Authors PMID Year
1
A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss. 57 6
17339269 2007
2
Genetics of pregnancy loss. 57
18303502 2008
3
Recurrent miscarriage. 57
16905025 2006
4
Micromolar Zinc in Annexin A5 Anticoagulation as a Potential Remedy for RPRGL3-Associated Recurrent Pregnancy Loss. 61
29716435 2019
5
Genetic analysis of the M2/ANXA5 haplotype as recurrent pregnancy loss predisposition in the Malay population. 61
28108842 2017
6
Lessons From the EThIGII Trial: Proper Putative Benefit Assessment of Low-Molecular-Weight Heparin Treatment in M2/ANXA5 Haplotype Carriers. 61
27418639 2017

Variations for Pregnancy Loss, Recurrent 3

ClinVar genetic disease variations for Pregnancy Loss, Recurrent 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASIC5 NM_017419.3(ASIC5):c.680G>T (p.Arg227Ile) SNV Pathogenic 684614 rs1248841709 GRCh37: 4:156773374-156773374
GRCh38: 4:155852222-155852222
2 ANXA5 ANXA5, M2 HAPLOTYPE Variation risk factor 29691 GRCh37:
GRCh38:

Expression for Pregnancy Loss, Recurrent 3

Search GEO for disease gene expression data for Pregnancy Loss, Recurrent 3.

Pathways for Pregnancy Loss, Recurrent 3

GO Terms for Pregnancy Loss, Recurrent 3

Sources for Pregnancy Loss, Recurrent 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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