diabetes mellitus, transient neonatal, 3
Findings
No curated finding names diabetes mellitus, transient neonatal, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.
Definition from the Mondo Disease Ontology (MONDO:0012522), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset · Intermediate 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.
- Decreased circulating C-peptide concentrationHPOHP:0030795
- 4 of 4 reported patients
- Elevated hemoglobin A1cHPOHP:0040217
- 4 of 4 reported patients
- HyperglycemiaHPOHP:0003074
- 4 of 4 reported patients
- Anti-glutamic acid decarboxylase antibody positivityHPOHP:0025329
- 1 of 4 reported patients
- Transient neonatal diabetes mellitusHPOHP:0008255
- 1 of 4 reported patients
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.
- KCNJ11HGNC:6257
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: diabetes mellitus, transient neonatal, 3
- Also called
- diabetes mellitus, transient neonatal 3diabetes mellitus, transient neonatal, type 3KCNJ11 transient neonatal diabetes mellitus (disease)transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11