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Standards Ontologies Notations
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 21 - 22 of 22 in total
Gene ID Gene Symbol Description Source
79660 PPP1R3B protein phosphatase 1 regulatory subunit 3B
80201 HKDC1 hexokinase domain containing 1
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 entry 21 - 21 of 21 in total
HPO ID HPO Term
HP:0012028 Hepatocellular adenoma
Displaying all 2 entries
Gene ID Gene Symbol Description
1056 CEL carboxyl ester lipase
2645 GCK glucokinase
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024