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maturity-onset diabetes of the young
Summary
- Synonym
-
- MODY
- Mason-type diabetes
- Definition
- A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
- Super Class
- autosomal dominant disease diabetes mellitus
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2645 | GCK | glucokinase | |
| 3099 | HK2 | hexokinase 2 | |
| 3101 | HK3 | hexokinase 3 | |
| 3630 | INS | insulin | |
| 3651 | PDX1 | pancreatic and duodenal homeobox 1 | |
| 6927 | HNF1A | HNF1 homeobox A | |
| 7052 | TGM2 | transglutaminase 2 | |
| 80201 | HKDC1 | hexokinase domain containing 1 | |
| 389692 | MAFA | MAF bZIP transcription factor A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000956 | Acanthosis nigricans |
| HP:0002594 | Pancreatic hypoplasia |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0008255 | Transient neonatal diabetes mellitus |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0000107 | Renal cyst |
| HP:0001953 | Diabetic ketoacidosis |
| HP:0000825 | Hyperinsulinemic hypoglycemia |
| HP:0003076 | Glycosuria |
| HP:0001513 | Obesity |
