maturity-onset diabetes of the young type 8

Summary
Synonym
  • MODY type 8
  • MODY8
  • diabetes and pancreatic exocrine
  • maturity-onset diabetes of the young type 8 with exocrine dysfunction
Definition
A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13.
Super Class
maturity-onset diabetes of the young
External Links
Disease Ontology
DOID:0111105
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1056 CEL carboxyl ester lipase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P19835 Bile salt-activated lipase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 25 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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024