Amish, Mennonite, and Hutterite
Genetic Disorder Database

Maturity-Onset Diabetes of the Young, Type 3

Disorder
OMIM #: #600496  (Click to access OMIM database)
Disorder: Maturity-Onset Diabetes of the Young, Type 3 
Also known as: MODY, TYPE 3 
Clinical
Phenotype: polydipsia, polyuria, diabetes mellitus, glucosuria, rarely metabolic acidosis(DKA) 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: HNF1A
Base Change: 1136-1137delCT
Amino Acid Change: Frame shift
Last updated: 2010-06-24 

References
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB and, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98.
PubMed ID: 18348266 
McKinney JL, Cao H, Robinson JF, Metzger DL, Cummings E, Riddell DC, Sanderson SR, Pacaud D, Ho J, Hegele RA. (2004) Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Clin Invest Med 27(3):135-41.
PubMed ID: 15305805 

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