Amish, Mennonite, and Hutterite
Genetic Disorder Database

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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