maturity-onset diabetes of the young
Findings
No curated finding names maturity-onset diabetes of the young yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
Definition from the Mondo Disease Ontology (MONDO:0018911), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Abnormal circulating C-peptide concentrationHPOHP:0030794
- Frequent (30% to 79% of cases)
- Abnormal circulating insulin concentrationHPOHP:0040214
- Frequent (30% to 79% of cases)
- Abnormal oral glucose toleranceHPOHP:0004924
- Frequent (30% to 79% of cases)
- Elevated hemoglobin A1cHPOHP:0040217
- Frequent (30% to 79% of cases)
- Glucose intoleranceHPOHP:0001952
- Frequent (30% to 79% of cases)
- GlycosuriaHPOHP:0003076
- Frequent (30% to 79% of cases)
Show the remaining 12
- Neonatal hypoglycemiaHPOHP:0001998
- Occasional (5% to 29% of cases)
- NephropathyHPOHP:0000112
- Occasional (5% to 29% of cases)
- OverweightHPOHP:0025502
- Occasional (5% to 29% of cases)
- RetinopathyHPOHP:0000488
- Occasional (5% to 29% of cases)
- Transient neonatal diabetes mellitusHPOHP:0008255
- Occasional (5% to 29% of cases)
- Abnormality of the genitourinary systemHPOHP:0000119
- Very rare (1% to 4% of cases)
Genes
12 genes
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.
- ABCC8HGNC:59
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- BLKHGNC:1057
- Supportive · Orphanet · Autosomal dominant · 2021
- CELHGNC:1848
- Supportive · Orphanet · Autosomal dominant · 2021
- GCKHGNC:4195
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:8618HGNC:8618
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (15)
- Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- maturity-onset diabetes of the young type 1
- maturity-onset diabetes of the young type 10
- maturity-onset diabetes of the young type 11
- maturity-onset diabetes of the young type 13
- maturity-onset diabetes of the young type 14
- maturity-onset diabetes of the young type 2
- maturity-onset diabetes of the young type 3
- maturity-onset diabetes of the young type 4
- maturity-onset diabetes of the young type 6
- maturity-onset diabetes of the young type 7
- maturity-onset diabetes of the young type 8
- maturity-onset diabetes of the young type 9
- maturity-onset diabetes of the young, type 12
- renal cysts and diabetes syndrome
Other names
3 names
Resolves to: maturity-onset diabetes of the young
- Also called
- maturity onset diabetes of the youngmaturity-onset diabetes of the young (disease)MODY