46,XY sex reversal

Summary
Synonym
  • 46 XY gonadal dysgenesis
  • Pure gonadal dysgenesis 46,XY
  • Swyer syndrome
Definition
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
Super Class
gonadal dysgenesis
External Links
Disease Ontology
DOID:14448
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
231 AKR1B1 aldo-keto reductase family 1 member B
847 CAT catalase
1109 AKR1C4 aldo-keto reductase family 1 member C4
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1584 CYP11B1 cytochrome P450 family 11 subfamily B member 1
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2
1646 AKR1C2 aldo-keto reductase family 1 member C2
2877 GPX2 glutathione peroxidase 2
5226 PGD phosphogluconate dehydrogenase
5332 PLCB4 phospholipase C beta 4

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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