Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cortisol 11-Beta-ketoreductase deficiency

Disorder
OMIM #: #218030  (Click to access OMIM database)
Disorder: Cortisol 11-Beta-ketoreductase deficiency 
Also known as: Apparent Mineralcorticoid Excess
AME 
Clinical
Phenotype: severe hypertension, hypokalemia, suppressed serum renin activity 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: HSD11B2
Base Change: C>T, at nucleotide 680
Amino Acid Change: pro 227 --> leu
Last updated: 2017-12-12 

References
New MI, Wilson RC. (1999) Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA Oct 26;96(22):12790-7.
PubMed ID: 10536001 
Ugrasbul F, Wiens T, Rubinstein P, New MI, Wilson RC. (1999) Prevalence of mild apparent mineralocorticoid excess in Mennonites. J Clin Endocrinol Metab 84(12):4735-8.
PubMed ID: 10599743 
Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, New MI. (1998) A genetic defect resulting in mild low-renin hypertension. Proc Natl Acad Sci U S A 95(17):10200-5.
PubMed ID: 9707624 

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