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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 |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1056 | CEL | carboxyl ester lipase | |
| 2203 | FBP1 | fructose-bisphosphatase 1 | |
| 2350 | FOLR2 | folate receptor beta | |
| 2571 | GAD1 | glutamate decarboxylase 1 | |
| 2645 | GCK | glucokinase | |
| 2678 | GGT1 | gamma-glutamyltransferase 1 | |
| 2819 | GPD1 | glycerol-3-phosphate dehydrogenase 1 | |
| 3098 | HK1 | hexokinase 1 | |
| 3099 | HK2 | hexokinase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13478 | Interleukin-18 receptor 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001520 | Large for gestational age |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0001952 | Glucose intolerance |
| HP:0001953 | Diabetic ketoacidosis |
| HP:0001998 | Neonatal hypoglycemia |
| HP:0002594 | Pancreatic hypoplasia |
| HP:0003074 | Hyperglycemia |
| HP:0003076 | Glycosuria |
| HP:0004924 | Abnormal oral glucose tolerance |
| HP:0008255 | Transient neonatal diabetes mellitus |
