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maturity-onset diabetes of the young type 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maturity-onset diabetes of the young type 8

MONDO:0012348

Also known as:CEL maturity-onset diabetes of the young (disease)MODY type 8MODY8

Overview

Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.

GeneticsAutosomal dominant · CEL (chr 9)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, and Elevated hemoglobin A1c and 1 more.

Organ System	Phenotype Count	Example Features
Digestive system	2	Exocrine pancreatic insufficiency, Abdominal pain

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CEL encodes carboxyl ester lipase (753 aa). Catalyzes the hydrolysis of a wide range of substrates including cholesteryl esters, phospholipids, lysophospholipids, di- and tri-acylglycerols, and fatty acid esters of hydroxy fatty acids (FAHFAs). Highest expression in Pancreas (13,917 TPM) and Pituitary (158.0 TPM).

Maturity-onset diabetes of the young type 8 has been associated with mutations in the CEL gene on chromosome 9.

The CEL protein participates in CELA2A propeptide, Digestion of triacylglycerols by extracellular CEL (bile salt-dependent lipase), and Digestion of monoacylglycerols by extracellular CEL (bile salt-dependent lipase) pathways.

CEL is classified as a druggable target (Druggable Genome and Enzyme categories) with score 7.5.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for CEL is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for maturity-onset diabetes of the young type 8 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for maturity-onset diabetes of the young type 8.

81 publications have been identified in PubMed for maturity-onset diabetes of the young type 8. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (20%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Patient case studies	27	33%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:26 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609812

GARD

Genetic and Rare Diseases Info Center

GARD:10662

Questions for Your Care Team

→Should I pursue genetic testing for CEL, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

maturity-onset diabetes of the young type 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

maturity-onset diabetes of the young type 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications