maturity-onset diabetes of the young type 8
Findings
No curated finding names maturity-onset diabetes of the young type 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.
Definition from the Mondo Disease Ontology (MONDO:0012348), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal painHPOHP:0002027
- Elevated hemoglobin A1cHPOHP:0040217
- Exocrine pancreatic insufficiencyHPOHP:0001738
- HyperglycemiaHPOHP:0003074
- Maturity-onset diabetes of the youngHPOHP:0004904
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CELHGNC:1848
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Moderate · ClinGen · Autosomal dominant · 2023
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: maturity-onset diabetes of the young type 8
- Also called
- CEL maturity-onset diabetes of the young (disease)maturity-onset diabetes of the young (disease) caused by mutation in CELmaturity-onset diabetes of the young, type VIIIMODY8