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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessDiabetes mellitus, transient neonatal; differential diagnosis


Short information

Comprehensive differential diagnostic panel for Diabetes mellitus, transient neonatal comprising 3 or altogether 15 curated genes according to the clinical signs

Number of genes
13 Accredited laboratory test
Examined sequence length
7,6 kb (Core-/Core-canditate-Genes)
24,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCC84746NM_000352.6n.k., AD
ZFP571611NM_001109809.5AD, AR
INS333NM_000207.3AD, AR

Informations about the disease

Clinical Comment

Neonatal diabetes mellitus: hyperglycemia, failure to thrive, in some cases, dehydration + ketoacidosis which may be severe with coma, in a child within the first months of life.


  • Alias: (6q24-related) transient neonatal diabetes mellitus
  • Allelic: Atrial septal defect 2 (GATA4)
  • Allelic: Atrial septal defect 9 (GATA6)
  • Allelic: Atrioventricular septal defect 4 (GATA4)
  • Allelic: Atrioventricular septal defect 5 (GATA6)
  • Allelic: Diabetes mellitus, insulin-dependent, 2 (INS)
  • Allelic: Diabetes mellitus, noninsulin-dependent (ABCC8)
  • Allelic: Diabetes mellitus, noninsulin-dependent [panelapp] (SLC2A2)
  • Allelic: Diabetes mellitus, noninsulin-dependent, late onset (GCK)
  • Allelic: Diabetes mellitus, permanent neonatal (ABCC8)
  • Allelic: Diabetes mellitus, permanent neonatal, with neurologic features (KCNJ11)
  • Allelic: Diabetes mellitus, transient neonatal 2 (ABCC8)
  • Allelic: Diabetes mellitus, transient neonatal, 3 (KCNJ11)
  • Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
  • Allelic: Diabetes mellitus, type II, susceptibility to (PDX1)
  • Allelic: Diabetes, permanent neonatal (KCNJ11)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
  • Allelic: Hyperproinsulinemia (INS)
  • Allelic: Hypoglycemia of infancy, leucine-sensitive (ABCC8)
  • Allelic: MODY, type II (GCK)
  • Allelic: MODY, type IV (PDX1)
  • Allelic: Maturity-onset diabetes of the young, type 10 (INS)
  • Allelic: Neonatal diabetes mellitus [MONDO:0016391] (SLC2A2)
  • Allelic: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [MONDO:0010802] (GATA4)
  • Allelic: Permanent Neonatal diabetes mellitus [MONDO:010016] (INS)
  • Allelic: Permanent neonatal diabetes mellitus [MONDO:0100164] (HNF1B)
  • Allelic: Permanent neonatal diabetes mellitus [MONDO:0100164] (SLC2A2)
  • Allelic: Permanent neonatal diabetes melllitus [MONDO:0100164] (GATA4)
  • Allelic: Persistent truncus arteriosus (GATA6)
  • Allelic: Renal cell carcinoma (HNF1B)
  • Allelic: Testicular anomalies with/-out congenital heart disease (GATA4)
  • Allelic: Tetralogy of Fallot (GATA4)
  • Allelic: Tetralogy of Fallot (GATA6)
  • Allelic: Type 2 diabetes mellitus (HNF1B)
  • Allelic: Ventricular septal defect 1 (GATA4)
  • Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
  • Diabetes mellitus, permanent neonatal 1 (GCK)
  • Diabetes mellitus, permanent neonatal 4 (INS)
  • Diabetes mellitus, transient neonatal, 1 (ZFP57)
  • Fanconi-Bickel syndrome (SLC2A2)
  • Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
  • Mitchell-Riley s. [neonat. diab., pancr. hypoplasia, intest. atresia, gallbladder a-/hypopl.] (RFX6)
  • Neonatal diabetes mellitus [MONDO:0016391] (GATA6)
  • Pancreatic + cerebellar agenesis (PTF1A)
  • Pancreatic agenesis + congenital heart defects (GATA6)
  • Pancreatic agenesis 1 (PDX1)
  • Pancreatic agenesis 2 (PTF1A)
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802 (GATA4)
  • Permanent neonatal diabetes melllitus, MONDO:0100164 (GATA4)
  • Testicular anomalies +/- congenital heart disease (GATA4)
  • Transient neonatal diabetes mellitus (disease), MONDO:0020525 (GATA4)
  • Transient neonatal diabetes mellitus [MONDO:0020525] (GATA4)
  • Transient neonatal diabetes mellitus [MONDO:0020525] (HNF1B)
  • Transient neonatal diabetes mellitus [MONDO:0020525] (SLC2A2)
  • Transient neonatal diabetes mellitus, AD/AR [MONDO:0020525] (INS)
  • Transient neonatal diabetes mellitus, AR [MONDO:0020525] (GCK)
  • Transient neonatal diabetes, PLAGL1 gene in 6q24 region: hypomethylation, variable (PLAGL1)
  • Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency, low BW (HNF1B)
  • Wolcott-Rallison syn. [ins-dep. diabetes, epiphys. dysplas., osteoporosis, growth retard.] (EIF2AK3)
  • Wolcott-Rallison syndrome, includes onset of diabetes in neonatal period/early infancy (EIF2AK3)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
  • n.k.
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined