ErkrankungDiabetes mellitus, transient neonatal; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Diabetes mellitus, transient neonatal mit 3 bzw. 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
DP0304
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,6 kb (Core-/Basis-Gene)
24,4 kb (Erweitertes Panel)
24,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ABCC8 | 4746 | AD und/oder AR | |
KCNJ11 | 1173 | AD und/oder AR und/oder Ass | |
ZFP57 | 1611 | AD | |
EIF2AK3 | 3351 | AR | |
FOXP3 | 1296 | XLR | |
GATA6 | 1788 | AD | |
GCK | 1398 | AD und/oder AR | |
GLIS3 | 2328 | AR | |
HNF1B | 1674 | AD und/oder Sus | |
INS | 333 | AD und/oder AR | |
PDX1 | 852 | AD und/oder AR und/oder Dig und/oder Sus | |
PTF1A | 987 | AR | |
RFX6 | 2787 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Diabetes mellitus bei Neugeborenen: Hyperglykämie, Gedeihstörung, in einigen Fällen Dehydrierung + Ketoazidose, die mit Koma schwerwiegend sein kann, bei einem Kind innerhalb der ersten Lebensmonate
Synonyme
- 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)
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Ass
- AD und/oder AR und/oder Dig und/oder Sus
- AD und/oder Sus
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
P70.2
Bioinformatik und klinische Interpretation
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