| Entry |
|
|---|
| Name |
CYP17A1 deficiency in steroid hormone biosynthesis
|
|---|
| Definition |
Progesterone -- CYP17A1* // CYP21A2 >> CYP11B1/2 -> Cortisol -- HSD11B2 -> Cortisone |
|---|
| Expanded |
C00410 -- 1586v1 // 1589 >> (1584,1585) -> C00735 -- 3291 -> C00762 |
|---|
| Class |
nt06019 Steroid hormone biosynthesis
|
|---|
| Type |
Variant
|
|---|
| Disease |
| H00216 | Congenital adrenal hyperplasia |
|
|---|
| Gene |
| 1586 | CYP17A1; cytochrome P450 family 17 subfamily A member 1 |
| 1589 | CYP21A2; cytochrome P450 family 21 subfamily A member 2 |
| 1584 | CYP11B1; cytochrome P450 family 11 subfamily B member 1 |
| 1585 | CYP11B2; cytochrome P450 family 11 subfamily B member 2 |
| 3291 | HSD11B2; hydroxysteroid 11-beta dehydrogenase 2 |
|
|---|
| Variant |
1586v1 (CYP17A1*) CYP17A1 deficiency
|
|---|
| Metabolite |
|
|---|
| Reference |
|
|---|
| Authors |
Geller DH, Auchus RJ, Mendonca BB, Miller WL |
|---|
| Title |
The genetic and functional basis of isolated 17,20-lyase deficiency. |
|---|
| Journal |
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| LinkDB |
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