EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category  |
Confidence Level |
|---|
    1.1.1.270 | 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 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
4835137 |
Testicular endocrine function in a pubertal boy with 3beta-hydroxysteroid dehydrogenase deficiency. |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
11045335 |
Hydrops of placental stem villi complicated with fetal congenital adrenal hyperplasia. |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
11196452 |
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency. |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
16776248 |
[3Beta-hydroxysteroid dehydrogenase deficiency] |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
17063810 |
[Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase deficiency] |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
18647821 |
An adrenal rest tumour in the perirenal region in a patient with congenital adrenal hyperplasia due to congenital 3beta-hydroxysteroid dehydrogenase deficiency. |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
29420188 |
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit. |
causal interaction
unassigned |
4
0 |
| 1.1.1.270 | Acne Vulgaris |
24157973 |
Association of HSD17B3 and HSD3B1 polymorphisms with acne vulgaris in Southwestern Han Chinese. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
3
3
2
1 |
| 1.1.1.270 | Adrenal Hyperplasia, Congenital |
10843183 |
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. |
causal interaction
unassigned |
4
0 |
