maturity-onset diabetes of the young type 14
Findings
No curated finding names maturity-onset diabetes of the young type 14 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 APPL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014674), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
3 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.
- Maturity-onset diabetes of the youngHPOHP:0004904
- 13 of 13 reported patients
- Elevated hemoglobin A1cHPOHP:0040217
- 5 of 13 reported patients
- Diabetes mellitusHPOHP:0000819
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.
- APPL1HGNC:24035
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: maturity-onset diabetes of the young type 14
- Also called
- APPL1 maturity-onset diabetes of the young (disease)maturity-onset diabetes of the young (disease) caused by mutation in APPL1MODY14