Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency
| Disorder | |
|---|---|
| OMIM #: | #202010 (Click to access OMIM database) |
| Disorder: | Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency |
| Also known as: | ADRENAL HYPERPLASIA IV, STEROID 11-BETA-HYDROXYLASE DEFICIENCY, 11-BETA-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, HYPERTENSIVE FORM, P450C11B1 DEFICIENCY |
| Clinical | |
| Phenotype: | disorder of sexual differentiation for females, postnatal virilization, hypergenitalism (male), short stature, hypertension, adrenal hyperplasia, enlarged clitoris |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CYP11B1 |
| Base Change: | G>A, at nucleotide 1343 |
| Amino Acid Change: | arg 448 --> his |
| Last updated: | 2022-11-01 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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