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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABCC84746AD und/oder AR
KCNJ111173AD und/oder AR und/oder Ass
ZFP571611AD
EIF2AK33351AR
FOXP31296XLR
GATA61788AD
GCK1398AD und/oder AR
GLIS32328AR
HNF1B1674AD und/oder Sus
INS333AD und/oder AR
PDX1852AD und/oder AR und/oder Dig und/oder Sus
PTF1A987AR
RFX62787AR

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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