MCID: PRG096
MIFTS: 12

Pregnancy Loss, Recurrent 2

Categories: 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 75
Pregnancy Loss, Recurrent, Susceptibility to, Type 2 40
Pregnancy Loss, Recurrent, 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pregnancy loss, recurrent 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614390
MedGen 42 C3280672
MeSH 44 D000026
SNOMED-CT via HPO 69 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)

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). Related phenotype is recurrent spontaneous abortion.

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Pregnancy Loss, Recurrent 2

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
spontaneous abortion, recurrent


Clinical features from OMIM:

614390

Human phenotypes related to Pregnancy Loss, Recurrent 2:

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

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

Publications for Pregnancy Loss, Recurrent 2

Variations for Pregnancy Loss, Recurrent 2

ClinVar genetic disease variations for Pregnancy Loss, Recurrent 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh37 Chromosome 11, 46761055: 46761055
2 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh38 Chromosome 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 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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