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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 |
|---|---|---|---|
| 3101 | HK3 | hexokinase 3 | |
| 3630 | INS | insulin | |
| 3651 | PDX1 | pancreatic and duodenal homeobox 1 | |
| 5105 | PCK1 | phosphoenolpyruvate carboxykinase 1 | |
| 5335 | PLCG1 | phospholipase C gamma 1 | |
| 6514 | SLC2A2 | solute carrier family 2 member 2 | |
| 8050 | PDHX | pyruvate dehydrogenase complex component X | |
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 22908 | SACM1L | SAC1 like phosphatidylinositide phosphatase | |
| 51167 | CYB5R4 | cytochrome b5 reductase 4 |
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 |
