Amish, Mennonite, and Hutterite
Genetic Disorder Database

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

Disorder
OMIM #: #201910  (Click to access OMIM database)
Disorder: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 
Also known as: ADRENAL HYPERPLASIA III
21-HYDROXYLASE DEFICIENCY
CYP21 DEFICIENCY
CONGENITAL ADRENAL HYPERPLASIA 1 (CAH1) 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: CYP21A2
Base Change: T>A, at nucleotide 518
Amino Acid Change: ile 173 --> asn
2   Old Colony Mennonite  
Gene: CYP21A2
Base Change: c.293-13C>G
Amino Acid Change:
Last updated: 2018-04-20 

References
Donohoue PA, Guethlein L, Collins MM, Van Dop C, Migeon CJ, Bias WB, Schmeckpeper BJ. (1995) The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region. Tissue Antigens Sep;46(3(Pt 1)):163-72.
PubMed ID: 8525475 

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