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 FHHA1A, 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 |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | CYP11B2, E1 region |
| Base Change: | 5 bp deletion |
| Amino Acid Change: | Frame shift, stop codon in first exon |
| Last updated: | 2007-07-25 |
| 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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