| Entry |
|
|---|
| Name |
HSD3B7 deficiency in bile acid biosynthesis
|
|---|
| Definition |
Cholesterol -- (CYP7A1,CYP7B1,CYP39A1) >> HSD3B7* |
|---|
| Expanded |
C00187 -- (1581,9420,51302) >> 80270v1 |
|---|
| Class |
|
|---|
| Type |
Variant
|
|---|
| Disease |
| H00628 | Congenital bile acid synthesis defect |
|
|---|
| Gene |
| 1581 | CYP7A1; cytochrome P450 family 7 subfamily A member 1 |
| 9420 | CYP7B1; cytochrome P450 family 7 subfamily B member 1 |
| 51302 | CYP39A1; cytochrome P450 family 39 subfamily A member 1 |
| 80270 | HSD3B7; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
|
|---|
| Variant |
80270v1 (HSD3B7*) HSD3B7 deficiency
|
|---|
| Metabolite |
|
|---|
| Reference |
|
|---|
| Authors |
Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD, Russell DW |
|---|
| Title |
Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. |
|---|
| Journal |
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|---|
| LinkDB |
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