MCID: PRG092
MIFTS: 27

Pregnancy Loss, Recurrent 1

Categories: Genetic diseases, Fetal 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 13
Abortion, Habitual 44 73
Rprgl1 57 75
Rprgl 57 75
Rpl 57 75
Pregnancy Loss, Recurrent, Susceptibility to, Type 1 40
Fetal Loss, Recurrent, Susceptibility to 57
Abortion, Spontaneous, Recurrent 57
Spontaneous Recurrent Abortion 75
Pregnancy Loss, Recurrent, 1 75
Embryonic Loss, Recurrent 57
Recurrent Embryonic Loss 75
Miscarriage, Recurrent 57
Fetal Loss, Recurrent 57
Stillbirth, Recurrent 57
Recurrent Miscarriage 75
Miscarriage Recurrent 55
Recurrent Fetal Loss 75
Recurrent Stillbirth 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pregnancy loss, recurrent 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614389
MedGen 42 C3280670
MeSH 44 D000026
SNOMED-CT via HPO 69 263681008
UMLS 73 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)

MalaCards based summary : Pregnancy Loss, Recurrent 1, also known as pregnancy loss, recurrent, susceptibility to, 1, is related to thrombosis and antiphospholipid syndrome. An important gene associated with Pregnancy Loss, Recurrent 1 is F5 (Coagulation Factor V). Affiliated tissues include monocytes, and related phenotype is recurrent spontaneous abortion.

UniProtKB/Swiss-Prot : 75 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 : 76 Recurrent miscarriage, habitual abortion, or recurrent pregnancy loss (RPL) is three or more consecutive... more...

Related Diseases for Pregnancy Loss, Recurrent 1

Diseases related to Pregnancy Loss, Recurrent 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 thrombosis 29.4 APOH F5
2 antiphospholipid syndrome 29.3 APOH F5
3 thrombophilia 29.3 APOH F5
4 pregnancy loss, recurrent 2 10.9
5 pregnancy loss, recurrent 3 10.9
6 diethylstilbestrol syndrome 10.9
7 antiphospholipid syndrome, familial 10.8
8 may-thurner syndrome 10.2 APOH F5
9 acanthamoeba keratitis 10.2 APOH F5
10 spinal cord infarction 10.2 APOH F5
11 livedoid vasculopathy 10.2 APOH F5
12 cerebral sinovenous thrombosis 10.2 APOH F5
13 prothrombin deficiency, congenital 10.2 APOH F5
14 ischemic colitis 10.2 APOH F5
15 catastrophic antiphospholipid syndrome 10.2 APOH F5
16 sneddon syndrome 10.2 APOH F5
17 retinal artery occlusion 10.2 APOH F5
18 intracranial thrombosis 10.2 APOH F5
19 retinal vascular occlusion 10.2 APOH F5
20 thrombophlebitis 10.2 APOH F5
21 prothrombin deficiency 10.2 APOH F5
22 carotid artery occlusion 10.1 APOH F5
23 antithrombin iii deficiency 10.1 APOH F5
24 peripheral vertigo 10.1 APOH F5
25 central retinal vein occlusion 10.1 APOH F5
26 factor xii deficiency 10.1 APOH F5
27 portal vein thrombosis 10.1 APOH F5
28 protein s deficiency 10.1 APOH F5
29 placental abruption 10.1 APOH F5
30 ischemic optic neuropathy 10.1 APOH F5
31 intracranial hypertension 10.1 APOH F5
32 retinal vein occlusion 10.0 APOH F5
33 thrombophilia due to activated protein c resistance 10.0 APOH F5
34 placenta disease 10.0 APOH F5
35 eclampsia 10.0 F5 HLA-G
36 thrombophilia due to thrombin defect 10.0 APOH F5
37 budd-chiari syndrome 10.0 APOH F5
38 pulmonary embolism 9.9 APOH F5
39 cerebrovascular disease 9.9 F5 HOTAIR
40 male infertility 9.9
41 yaws 9.9
42 infertility 9.9
43 macrophage activation syndrome 9.9
44 encephalopathy 9.9
45 hellp syndrome 9.8 APOH F5
46 severe pre-eclampsia 9.6 APOH F5 HLA-G
47 systemic lupus erythematosus 9.6
48 thrombotic thrombocytopenic purpura 9.6
49 purpura 9.6
50 protein c deficiency 9.6

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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
spontaneous abortion, recurrent
fetal loss after 20 weeks or more of gestation


Clinical features from OMIM:

614389

Human phenotypes related to Pregnancy Loss, Recurrent 1:

32
# Description HPO Frequency HPO Source Accession
1 recurrent spontaneous abortion 32 HP:0200067

Drugs & Therapeutics for Pregnancy Loss, Recurrent 1

Search Clinical Trials , NIH Clinical Center for Pregnancy Loss, Recurrent 1

Cochrane evidence based reviews: abortion, habitual

Genetic Tests for Pregnancy Loss, Recurrent 1

Anatomical Context for Pregnancy Loss, Recurrent 1

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

41
Monocytes

Publications for Pregnancy Loss, Recurrent 1

Articles related to Pregnancy Loss, Recurrent 1:

# Title Authors Year
1
Alpha2B-adrenergic receptor insertion/deletion polymorphism in women with spontaneous recurrent abortions. ( 21159032 )
2011
2
Suppressed cell-mediated immunity and monocyte and natural killer cell activity following allogeneic immunization of women with spontaneous recurrent abortion. ( 9327341 )
1997
3
Antibodies to phospholipids and nuclear antigens in non-pregnant women with unexplained spontaneous recurrent abortions. ( 8229999 )
1993

Variations for Pregnancy Loss, Recurrent 1

ClinVar genetic disease variations for Pregnancy Loss, Recurrent 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant risk factor rs6025 GRCh37 Chromosome 1, 169519049: 169519049
2 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant risk factor rs6025 GRCh38 Chromosome 1, 169549811: 169549811

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

Biological processes related to Pregnancy Loss, Recurrent 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 8.62 APOH F5

Sources for Pregnancy Loss, Recurrent 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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