Pregnancy Loss, Recurrent 1 (RPRGL1)

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OMIM 57 614389 MedGen 42 C3280670 MeSH 44 D000026

SNOMED-CT via HPO 69 263681008 UMLS 73 C0000809

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 thrombophilia and factor xii deficiency. An important gene associated with Pregnancy Loss, Recurrent 1 is F5 (Coagulation Factor V). Affiliated tissues include monocytes, lung and kidney, 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...

Clinical features from OMIM:

614389

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