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
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
26060 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0000956 Acanthosis nigricans
HP:0002594 Pancreatic hypoplasia
HP:0000119 Abnormality of the genitourinary system
HP:0008255 Transient neonatal diabetes mellitus
HP:0001738 Exocrine pancreatic insufficiency
HP:0000107 Renal cyst
HP:0001953 Diabetic ketoacidosis
HP:0000825 Hyperinsulinemic hypoglycemia
HP:0003076 Glycosuria
HP:0001513 Obesity
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: December 9, 2024