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 1 - 10 of 46 in total
Gene ID Gene Symbol Description Source
39 ACAT2 acetyl-CoA acetyltransferase 2
142 PARP1 poly(ADP-ribose) polymerase 1
412 STS steroid sulfatase
594 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta
952 CD38 CD38 molecule
1012 CDH13 cadherin 13
1116 CHI3L1 chitinase 3 like 1
1312 COMT catechol-O-methyltransferase
1497 CTNS cystinosin, lysosomal cystine transporter
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6

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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