GenTIGSA Gene Database on Rare Genetic Disorders
3 Beta-Hydroxysteroid Dehydrogenase Deficiency  
Disease Aliases (24)

3 beta-hsd deficiency

3 alpha beta-hsd deficiency

3 alpha beta-hydroxysteroid dehydrogenase deficiency

3 alpha beta-hydroxysteroid dehydrogenase, type 2, deficiency of

3 beta-ol dehydrogenase deficiency

3-beta-hsd deficiency

3-beta-hydroxysteroid dehydrogenase, type ii, deficiency of

3-beta hydroxysteroid dehydrogenase deficiency

3-beta-hydroxysteroid dehydrogenase deficiency

3-beta hsd deficiency

3b-hydroxysteroid dehydrogenase deficiency

3beta-hsd deficiency

3beta-hsd deficiency congenital adrenal hyperplasia

3beta-hydroxysteroid dehydrogenase deficiency

Adrenal hyperplasia ii

Adrenal hyperplasia 2

Cah due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Hsd3b deficiency

Hsdb

Hsdb3

Type ii 3-beta-hydroxysteroid dehydrogenase deficiency

Type ii 3beta-hydroxysteroid dehydrogenase deficiency

Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency

Associated Genes (1)
 

NCBI-RefSeq:  HSD3B2   (Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of 3 beta-Hydroxysteroid dehydrogenase deficiency OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations