Preferred Label : Spermatogenic failure 4;
Symbol : SPGF4;
CISMeF acronym : RPRGL4; SPGF4;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Azoospermia due to perturbations of meiosis; Azoospermia with maturation arrest; Spermatogenesis arrest;
Included titles and symbols : Pregnancy loss, recurrent, 4; RPRGL4;
Description : Azoospermia, a condition in which there are no sperm present in the ejaculate, has
historically been divided into 2 broad categories, obstructive (e.g., 277180) and
nonobstructive. Among the genetically based, inherited nonobstructive causes are defects
of spermatogenesis, which may interrupt the development of the sperm at various stages,
either before (e.g., 415000) or during meiosis. - Recurrent Pregnancy Loss 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' 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). For a discussion of genetic heterogeneity of recurrent pregnancy
loss, see RPRGL1 (614389).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the synaptonemal complex protein-3 gene (SYCP3, 604759.0001);
Prefixed ID : #270960;
Origin ID : 270960;
UMLS CUI : C0232981;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
