Preferred Label : Spermatogenic failure 1;
Symbol : SPGF1;
CISMeF acronym : SPGF1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Oligosynaptic infertility; Oligochiasmatic infertility;
Description : The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized
by germ cells that enter meiosis and undergo the first chromosomal reduction from
4n to 2n but are then unable to proceed further. This results in tubules containing
spermatocytes as the latest developmental stage of germ cells. Meiotically arrested
spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable
from normal spermatocytes by their partially condensed chromosomes. Although the cause
of infertility in patients with meiotic arrest often remains unidentified, this histologic
picture can be observed in patients with nonidiopathic infertility as well, such as
in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and
cryptorchidism, suggesting that different causal factors can result in the same effect
(summary by Luetjens et al., 2004). - Phenotypic and Genetic Heterogeneity of Spermatogenic
Failure;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the synaptonemal complex protein 2 gene (SYCP2, 604105.0001);
Prefixed ID : #258150;
Origin ID : 258150;
UMLS CUI : C0403810;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
