spermatogenic failure 61

Summary
Synonym
  • SPGF61
Definition
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1.
Super Class
autosomal recessive disease spermatogenic failure
Disease Ontology
DOID:0112350
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10734 STAG3 STAG3 cohesin complex component
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0008669 Abnormal spermatogenesis
HP:0000118 Phenotypic abnormality
HP:0011961 Non-obstructive azoospermia
HP:0000027 Azoospermia
HP:0008734 Decreased testicular size
HP:0011962 Obstructive azoospermia
HP:0000837 Increased circulating gonadotropin level
Displaying 1 entry
Gene ID Gene Symbol Description
5161 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024