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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
Related Genes
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| B0YJ81 | Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 | |
| O00329 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | |
| O15305 | Phosphomannomutase 2 | |
| O43895 | Xaa-Pro aminopeptidase 2 | |
| O60931 | Cystinosin | |
| P08842 | Steryl-sulfatase | |
| P09382 | Galectin-1 | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P11717 | Cation-independent mannose-6-phosphate receptor | |
| P17931 | Galectin-3 |
