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 11 - 20 of 21 in total
HPO ID HPO Term
HP:0000077 Abnormality of the kidney
HP:0001998 Neonatal hypoglycemia
HP:0000831 Insulin-resistant diabetes mellitus
HP:0004924 Abnormal oral glucose tolerance
HP:0000112 Nephropathy
HP:0001520 Large for gestational age
HP:0012028 Hepatocellular adenoma
HP:0001511 Intrauterine growth retardation
HP:0003074 Hyperglycemia
HP:0000488 Retinopathy
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