androgen insensitivity syndrome

Summary
Synonym
  • Androgen resistance syndrome
  • Androgen-Insensitivity Syndrome
  • Feminisation - testicular
  • Goldberg - Maxwell syndrome
  • Goldberg-Maxwell syndrome
  • testicular Feminization syndrome
  • testicular feminization
Definition
A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
Super Class
disorder of sexual development
External Links
Disease Ontology
DOID:4674
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 30 of 46 in total
Gene ID Gene Symbol Description Source
3482 IGF2R insulin like growth factor 2 receptor
3956 LGALS1 galectin 1
3958 LGALS3 galectin 3
5226 PGD phosphogluconate dehydrogenase
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
5321 PLA2G4A phospholipase A2 group IVA
5373 PMM2 phosphomannomutase 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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