EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
9120982 |
Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome. |
causal interaction
unassigned |
4
0 |
| 1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
11192529 |
3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman. |
causal interaction
unassigned |
4
0 |
| 1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
12608938 |
Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test. |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
1
2
0 |
| 1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
14260992 |
CONCURRENT 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY IN ADRENAL AND SCLEROCYSTIC OVARY. |
causal interaction
unassigned |
3
0 |
| 1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
14764797 |
The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
4
2
0 |
| 1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
15585552 |
Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
1
0 |
| 1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
17496421 |
A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
18252794 |
Carboxyl-Terminal Mutations in 3{beta}-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
1
0 |
| 1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
20400917 |
Titration of Bile Acid Supplements in 3beta-Hydroxy-Delta5-C27-Steroid Dehydrogenase/Isomerase Deficiency. |
causal interaction
unassigned |
4
0 |
| 1.1.1.145 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
20531254 |
Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
