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 11 - 20 of 46 in total
Gene ID Gene Symbol Description Source
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
1581 CYP7A1 cytochrome P450 family 7 subfamily A member 1
1582 CYP8B1 cytochrome P450 family 8 subfamily B member 1
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
2571 GAD1 glutamate decarboxylase 1
2583 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1
2592 GALT galactose-1-phosphate uridylyltransferase
2878 GPX3 glutathione peroxidase 3
3293 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 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