Preferred Label : Pregnancy loss, recurrent, susceptibility to, 1;
Symbol : RPRGL1;
CISMeF acronym : RPL; RPRGL; RPRGL1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : RPL; Fetal loss, recurrent, susceptibility to; RPRGL; Abortion, spontaneous, recurrent; Miscarriage, recurrent; Embryonic loss, recurrent; Stillbirth, recurrent;
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 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). - Genetic Heterogeneity of Recurrent Pregnancy Loss Susceptibility
to RPRGL can also be caused by mutation in the coagulation factor II gene (176930)
on chromosome 11p11-q12 (RPRGL2; 614390). RPRGL3 (614391) is caused by mutation in
the ANXA5 gene (131230) on chromosome 4q26-q28. RPRGL4 is caused by mutation in the;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the coagulation factor V gene (F5, 612309.0001);
Prefixed ID : #614389;
Origin ID : 614389;
UMLS CUI : C3280670;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
