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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 |
|---|---|---|---|
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6716 | SRD5A2 | steroid 5 alpha-reductase 2 | |
| 6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
| 7512 | XPNPEP2 | X-prolyl aminopeptidase 2 | |
| 8644 | AKR1C3 | aldo-keto reductase family 1 member C3 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9365 | KL | klotho | |
| 23305 | ACSL6 | acyl-CoA synthetase long chain family member 6 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 51266 | CLEC1B | C-type lectin domain family 1 member B |
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 |
