maturity-onset diabetes of the young type 13

Summary
Synonym
  • MODY type 13
  • MODY13
Definition
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.
Super Class
maturity-onset diabetes of the young
External Links
Disease Ontology
DOID:0111110
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3767 KCNJ11 potassium inwardly rectifying channel subfamily J member 11
Displaying 1 entry
Gene ID Gene Symbol Description Source
16514 Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11
Displaying 1 entry
Gene ID Gene Symbol Description Source
83535 Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0000077 Abnormality of the kidney
HP:0000107 Renal cyst
HP:0000112 Nephropathy
HP:0000119 Abnormality of the genitourinary system
HP:0000488 Retinopathy
HP:0000825 Hyperinsulinemic hypoglycemia
HP:0000831 Insulin-resistant diabetes mellitus
HP:0000956 Acanthosis nigricans
HP:0001511 Intrauterine growth retardation
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: August 19, 2024