Corticosterone Methyloxidase Type 1 Deficiency
| Disorder | |
|---|---|
| OMIM #: | #203400 (Click to access OMIM database) |
| Disorder: | Corticosterone Methyloxidase Type 1 Deficiency |
| Also known as: | CMO I DEFICIENCY ALDOSTERONE DEFICIENCY I HYPERRENINEMIC HYPOALDOSTERONISM FAMILIAL, 1 ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE 18-HYDROXYLASE DEFICIENCY STEROID 18-HYDROXYLASE DEFICIENCY |
| Clinical | |
| Phenotype: | dehydration, failure to thrive, vomiting, intermittent fever, hyponatremia, hyperkalemia, feeding difficulties, hypotension, decreased serum aldosterone, increased serum corticosterone, increased serum renin, decreased serum 18-hyroxycorticosterone |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CYP11B2 |
| Base Change: | c.104_109delinsG |
| Amino Acid Change: | p.Val35Glyfs*3 |
| Last updated: | 2022-11-03 |
| References |
|---|
| Mitsuuchi Y, Kawamoto T, Miyahara K, Ulick S, Morton DH, Naiki Y, Kuribayashi I, Toda K, Hara T, Orii T, Yasuda K, Miura K, Yamamoto Y, Imura H, and Shizuta Y. (1993) Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. Biochem Biophys Res Commun 190(3): 864-869. PubMed ID: 8439335 |
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