Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
| Disorder | |
|---|---|
| OMIM #: | #201910 (Click to access OMIM database) |
| Disorder: | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
| Also known as: | ADRENAL HYPERPLASIA III 21-HYDROXYLASE DEFICIENCY CYP21 DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA 1 (CAH1) |
| Clinical | |
| Phenotype: | hypospadias, virilization, hypertension, hypoglycaemia, accelerated growth |
| 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: | CYP21A2 |
| Base Change: | T>A, at nucleotide 518 |
| Amino Acid Change: | ile 173 --> asn |
| 2 Old Colony Mennonite | |
| Gene: | CYP21A2 |
| Base Change: | c.293-13C>G |
| Amino Acid Change: | |
| Last updated: | 2022-11-01 |
| References |
|---|
| Donohoue PA, Guethlein L, Collins MM, Van Dop C, Migeon CJ, Bias WB, Schmeckpeper BJ. (1995) The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region. Tissue Antigens Sep;46(3(Pt 1)):163-72. PubMed ID: 8525475 |
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