GenTIGSA Gene Database on Rare Genetic Disorders
Deficiency Of Steroid 17-alpha-monooxygenase  
Disease Aliases (11)

17,20-lyase deficiency, isolated

17-alpha-hydroxylase deficiency

17-alpha-hydroxylase/17,20-lyase deficiency, combined complete

17-alpha-hydroxylase/17,20-lyase deficiency, combined partial

Adrenal hyperplasia v

Cah due to 17-alpha-hydroxylase deficiency

Combined 17-hydroxylase/17,20-lyase deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Congenital adrenal hyperplasia type 5

Adrenal hyperplasia 5

Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency

Associated Genes (1)
 

NCBI-RefSeq:  CYP17A1   (Cytochrome P450 family 17 subfamily A member 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Deficiency of steroid 17-alpha-monooxygenase OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations