Preferred Label : Pregnancy loss, recurrent, susceptibility to, 2;
Symbol : RPRGL2;
CISMeF acronym : RPRGL2;
Type : Phenotype, molecular basis known;
Description : 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).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the coagulation factor II gene (F2, 176930.0009);
Prefixed ID : #614390;
Origin ID : 614390;
UMLS CUI : C3280672;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
