maturity-onset diabetes of the young type 14

Summary
Synonym
  • MODY14
Definition
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14.
Super Class
maturity-onset diabetes of the young
Disease Ontology
DOID:0111111
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
26060 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UKG1 DCC-interacting protein 13-alpha
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0001953 Diabetic ketoacidosis
HP:0001520 Large for gestational age
HP:0001511 Intrauterine growth retardation
HP:0002594 Pancreatic hypoplasia
HP:0000119 Abnormality of the genitourinary system
HP:0000107 Renal cyst
HP:0001513 Obesity
HP:0001738 Exocrine pancreatic insufficiency
HP:0000488 Retinopathy
HP:0000825 Hyperinsulinemic hypoglycemia
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 4, 2025