Amish, Mennonite, and Hutterite
Genetic Disorder Database

Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency

Disorder
OMIM #: #202010  (Click to access OMIM database)
Disorder: Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 
Also known as: ADRENAL HYPERPLASIA IV, STEROID 11-BETA-HYDROXYLASE DEFICIENCY, 11-BETA-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, HYPERTENSIVE FORM, P450C11B1 DEFICIENCY 
Clinical
Phenotype: ambiguous genitalia for females, hypertension, postnatal virilization 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: CYP11B1
Base Change: G>A, at nucleotide 1343
Amino Acid Change: arg 448 --> his
Last updated: 2018-04-20 

References
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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