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, hyperglycemia, glucosuria |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Hutterite | |
| Gene: | HNF1A |
| Base Change: | c.1136-1137delCT |
| Amino Acid Change: | p.Pro379Argfs*39 |
| Last updated: | 2023-02-01 |
| 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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