Features include always present findings: Reduced C-peptide level, Hyperglycemia, and Elevated hemoglobin A1c; and sometimes findings: Transient neonatal diabetes mellitus and Anti-glutamic acid decarboxylase antibody positivity.

KCNJ11 encodes potassium inwardly rectifying channel subfamily J member 11 (390 aa). Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells. Highest expression in Muscle Skeletal (87.1 TPM) and Brain Cerebellum (37.4 TPM).

Diabetes mellitus, transient neonatal, 3 is associated with mutations in the KCNJ11 gene on chromosome 11.

The KCNJ11 protein participates in KCNJ11 tetramer:ABCC8 mutants, KCNJ11 tetramer:ABCC8:Mg2+:ADP tetramer, and KCNJ11:ATP tetramer:ABCC8 tetramer pathways.

KCNJ11 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 1.2.

Genetic testing for KCNJ11 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features.

No clinical trials have been registered for diabetes mellitus, transient neonatal, 3.

16 publications have been identified in PubMed for diabetes mellitus, transient neonatal, 3. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (25%), and Case Report / Case Series (19%).