Deficiency Of Steroid 17-alpha-monooxygenase(Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Endocrine disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Endocrine disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CYP17A1/1586 | cytochrome P450 family 17 subfamily A member 1 | 10q24.32 | Chr10, NC_000010.11 (102830531..102837413, complement) |
6883 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities