Disorder "Maturity-Onset Diabetes Of The Young"
Found 1 record
Disorder information
Disorder name:
Maturity-Onset Diabetes Of The Young 
Disoder ID:
OMIM entry:
Synonyms:
MODY,Mason-type diabetes 
Definition:
The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered susceptibility and altered onset time(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
HNF1A HNF1A:c.79A>C(p.Ile27Leu) Expressivity  Altered susceptibility and altered onset time  Each 27L allele is associated with a 1.6-year decrease (95% CI -2.6, -0.7) in age at diagnosis, specifically in the subset (n = 444) of individuals with a PTV.  Common variants at the HNF1A locus (rs1169288 [I27L]), which are associated with type 2 diabetes susceptibility, may modify age at diabetes diagnosis in individuals with HNF1A-MODY.more more
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