X-linked spermatogenic failure 1

Summary
Synonym
  • SPGFX1
Definition
A Sertoli cell-only syndrome characterized by X-linked inheritance.
Super Class
Sertoli cell-only syndrome
External Links
Disease Ontology
DOID:0070189
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
5223 PGAM1 phosphoglycerate mutase 1
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
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