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maturity-onset diabetes of the young type 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maturity-onset diabetes of the young type 14

MONDO:0014674

Also known as:APPL1 maturity-onset diabetes of the young (disease)MODY14maturity-onset diabetes of the young (disease) caused by mutation in APPL1

Overview

Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.

GeneticsAutosomal dominant

ResearchLimited published research (8 articles)

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 always present findings: Maturity-onset diabetes of the young; and common findings: Elevated hemoglobin A1c. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	2	Diabetes mellitus, Maturity-onset diabetes of the young

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

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 14.

8 publications have been identified in PubMed for maturity-onset diabetes of the young type 14. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (38%), and Basic Science / Preclinical (25%).

Recent Publications

Sanri A (2025). [PMID: 41367630](https://pubmed.ncbi.nlm.nih.gov/41367630/). *Pediatr Diabetes*. [Case Report / Case Series]
Sharma M (2025). [PMID: 39106207](https://pubmed.ncbi.nlm.nih.gov/39106207/). *Endocr Res*. [Review / Meta-Analysis]
Saleem A (2025). [PMID: 41306149](https://pubmed.ncbi.nlm.nih.gov/41306149/). *Cureus*. [Case Report / Case Series]
Eser M (2025). [PMID: 39361122](https://pubmed.ncbi.nlm.nih.gov/39361122/). *J Appl Genet*. [Basic Science / Preclinical]
Sriram A (2025). [PMID: 40779032](https://pubmed.ncbi.nlm.nih.gov/40779032/). *Diabetes*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616511

GARD

Genetic and Rare Diseases Info Center

GARD:16128

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maturity-onset diabetes of the young type 14

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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