spermatogenic failure 17

Summary
Synonym
  • Male infertility due to oocyte activation failure
  • SPGF17
Definition
A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12.
Super Class
autosomal recessive disease spermatogenic failure
External Links
Disease Ontology
DOID:0070174
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
89869 PLCZ1 phospholipase C zeta 1
The Human Phenotype Ontology
Displaying all 3 entries
HPO ID HPO Term
HP:0003251 Male infertility
HP:0000007 Autosomal recessive inheritance
HP:0011462 Young adult onset
Displaying 1 entry
Gene ID Gene Symbol Description
89869 PLCZ1 phospholipase C zeta 1

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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: August 19, 2024