Phenotypes associated with the disease maturity-onset diabetes of the young type 10 (OMIM:613370):
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: PCS. (PMID:18162506)
- Maturity-onset diabetes of the young (HP:0004904): 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 resistance, and lack of evidence of autoimmune destruction of the beta cells. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:18162506)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:18162506)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Onset: Antenatal onset (HP:0030674). (PMID:18162506)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:18162506)
- Diabetic ketoacidosis (HP:0001953): A type of diabetic metabolic abnormality with an accumulation of ketone bodies. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:18162506)