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
External Links
Disease Ontology
DOID:0050524
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 22 in total
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
Displaying all 3 entries
Gene ID Gene Symbol Description Source
16334 Ins2 insulin II
18609 Pdx1 pancreatic and duodenal homeobox 1
103988 Gck glucokinase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24385 Gck glucokinase
24506 Ins2 insulin 2
29535 Pdx1 pancreatic and duodenal homeobox 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
117364 Hex-t1 Hexokinase testis 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
30262 ins preproinsulin
Displaying 1 entry
Gene ID Gene Symbol Description Source
850317 GLK1 glucokinase
Related Glycoprotein
Displaying entry 11 - 11 of 11 in total
UniProt ID Protein Name Source
Q13478 Interleukin-18 receptor 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 21 in total
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
Displaying all 2 entries
Gene ID Gene Symbol Description
1056 CEL carboxyl ester lipase
2645 GCK glucokinase

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Last updated: August 19, 2024