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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 |
|---|---|---|---|
| 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 |
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 |
