Deutsch
IllnessDiabetes mellitus, transient neonatal; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Diabetes mellitus, transient neonatal comprising 3 or altogether 15 curated genes according to the clinical signs
ID
DP0304
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)
24,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| ABCC8 | 4746 | NM_000352.6 | n.k., AD | |
| KCNJ11 | 1173 | NM_000525.4 | AD | |
| ZFP57 | 1611 | NM_001109809.5 | AD, AR | |
| EIF2AK3 | 3351 | NM_004836.7 | AR | |
| FOXP3 | 1296 | NM_014009.4 | XLR | |
| GATA6 | 1788 | NM_005257.6 | AD | |
| GCK | 1398 | NM_000162.5 | AR | |
| GLIS3 | 2328 | NM_152629.4 | AR | |
| HNF1B | 1674 | NM_000458.4 | AD | |
| INS | 333 | NM_000207.3 | AD, AR | |
| PDX1 | 852 | NM_000209.4 | AR | |
| PTF1A | 987 | NM_178161.3 | AR | |
| RFX6 | 2787 | NM_173560.4 | 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.
Synonyms
- 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.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined