- Ketonuria (HP:0002919): High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. Evidence: PCS. Frequency: 1/1. (PMID:36595822)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: PCS. Frequency: 1/1. (PMID:36595822)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:36595822)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/1. (PMID:36595822)
- 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. Frequency: 11/11. (PMID:17426099;PMID:36595822)
- Acidemia (HP:0032368): An abnormally low blood pH (usually defined as less than 7.35). Evidence: PCS. Frequency: 1/1. (PMID:36595822)
- Elevated hemoglobin A1c (HP:0040217): An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. Evidence: PCS. Frequency: 1/1. (PMID:36595822)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: PCS. Frequency: 1/1. (PMID:36595822)
- Hypoinsulinemia (HP:0040216): A decreased concentration of insulin in the blood. Evidence: PCS. Frequency: 1/1. (PMID:36595822)
- 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:17426099)
- Anti-glutamic acid decarboxylase antibody positivity (HP:0025329): The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. Evidence: PCS. Frequency: 0/1. (PMID:36595822)
These phenotypes are associated with the disease maturity-onset diabetes of the young type 9 (OMIM:612225).