spermatogenic failure 15

Summary
Synonym
  • SPGF15
Definition
A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26.
Super Class
autosomal recessive disease spermatogenic failure
External Links
Disease Ontology
DOID:0070172
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1571 CYP2E1 cytochrome P450 family 2 subfamily E member 1
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0011961 Non-obstructive azoospermia
HP:0008669 Abnormal spermatogenesis
HP:0011962 Obstructive azoospermia
HP:0000027 Azoospermia
HP:0000837 Increased circulating gonadotropin level
HP:0008734 Decreased testicular size
HP:0000118 Phenotypic abnormality
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: August 19, 2024