EC Number   |
Disease  |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.1.1.270 | 11beta-hydroxysteroid dehydrogenase deficiency |
10915016 |
Epidemiologic study of adrenal gland disorders in Japan. |
causal interaction
unassigned |
3
0 |
| 1.1.1.270 | 3(or 17)beta-hydroxysteroid dehydrogenase deficiency |
184011 |
Male pseudohermaphroditism consistent with 17,20-desmolase deficiency. |
diagnostic usage
unassigned |
1
0 |
| 1.1.1.270 | 3(or 17)beta-hydroxysteroid dehydrogenase deficiency |
10599696 |
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 1.1.1.270 | 3(or 17)beta-hydroxysteroid dehydrogenase deficiency |
10770215 |
Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
1
1
0 |
| 1.1.1.270 | 3(or 17)beta-hydroxysteroid dehydrogenase deficiency |
16148681 |
Masculinizing genitoplasty in intersex patients. |
unassigned |
0 |
| 1.1.1.270 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
16148681 |
Masculinizing genitoplasty in intersex patients. |
unassigned |
0 |
| 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 |
9402240 |
Definitive diagnosis of enzymatic deficiencies of steroidogenesis in at-risk newborns and infants by urinary marker analysis using GC/MS-SIM. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 1.1.1.270 | 3beta-hydroxysteroid 3-dehydrogenase deficiency |
10208955 |
An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. |
unassigned |
0 |
