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ErkrankungDiabetes mellitus, neonatal; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Diabetes mellitus, neonatal mit 24 Leitlinien-kuratierten sowie 3 weiteren kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
DP0300
Anzahl Gene
26 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
37,1 kb (Core-/Basis-Gene)
40,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABCC84746AD und/oder AR
EIF2AK33351AR
FOXP31296XLR
GATA41329AD
GATA61788AD
GCK1398AD und/oder AR
GLIS32328AR
HNF1A1896AD und/oder AR und/oder Dig und/oder Sus
HNF1B1674AD und/oder Sus
HNF4A1359AD und/oder Dig und/oder Sus
IER3IP1249AR
INS333AD und/oder AR
KCNJ111173AD und/oder AR und/oder Ass
NEUROD11071AD und/oder AR
NEUROG3645AR
NKX2-2822AR
PAX61269AD und/oder AR
PDX1852AD und/oder AR und/oder Dig und/oder Sus
PTF1A987AR
RFX62787AR
SLC19A21494AR
SLC2A21575AD und/oder AR
WFS12673AD und/oder AR
CISD2408AR
PLAGL11392Meth
ZFP571611AD

Infos zur Erkrankung

Klinischer Kommentar

Hyperglykämie, Gedeihstörungen, in einigen Fällen Dehydrierung + Ketoazidose - kann bei einem Kind innerhalb der ersten Lebensmonate schwerwiegend mit Koma sein

 

Synonyme
  • Alias: Neonatal diabetes mellitus (NDM)
  • Allelic: Cataract 41 (WFS1)
  • Allelic: Deafness, AD 6/14/38 (WFS1)
  • Allelic: Diabetes mellitus, gestational (GCK)
  • Allelic: Diabetes mellitus, insulin-dependent (HNF1A)
  • Allelic: Diabetes mellitus, insulin-dependent, 2 (INS)
  • Allelic: Diabetes mellitus, insulin-dependent, 20 (HNF1A)
  • Allelic: Diabetes mellitus, noninsulin-dependent (ABCC8, HNF1B, HNF4A, SLC2A2)
  • Allelic: Diabetes mellitus, noninsulin-dependent, 2 (HNF1A)
  • Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
  • Allelic: Diabetes mellitus, noninsulin-dependent, late onset (GCK)
  • Allelic: Diabetes mellitus, type 1 (INS)
  • Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
  • Allelic: Diabetes mellitus, type II, susceptibility to (PDX1)
  • Allelic: Diarrhea 4, malabsorptive, congenital (NEUROG3)
  • Allelic: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
  • Allelic: Hepatic adenoma, somatic (HNF1A)
  • Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
  • Allelic: Hypoglycemia of infancy, leucine-sensitive (ABCC8)
  • Allelic: MODY, type II (GCK)
  • Allelic: MODY, type III (HNF1A)
  • Allelic: MODY, type IV (PDX1)
  • Allelic: MODY, type VI (NEUROD1)
  • Allelic: MODY, type X (INS)
  • Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Allelic: Silver spastic paraplegia syndrome (BSCL2)
  • Allelic: Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
  • Allelic:MODY, type I (HNF4A)
  • Asphyxiating thoracic dystrophy syndrome + infantile‐onset diabetes [panelapp] (PDIA6)
  • Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Congenital generalised lipodystrophy, severe insulin resistance + diabetes [panelapp] (BSCL2)
  • Currarino syndrome (MNX1)
  • Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
  • Diabetes mellitus, permanent neonatal (ABCC8, GCK, INS)
  • Diabetes mellitus, permanent neonatal, with neurologic features (KCNJ11)
  • Diabetes mellitus, transient neonatal (KCNJ11)
  • Diabetes mellitus, transient neonatal 2 (ABCC8)
  • Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
  • Diabetes, permanent neonatal (KCNJ11)
  • Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Fanconi-Bickel syndrome (SLC2A2)
  • Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
  • Immunodysregulation, polyendocrinopathy, enteropathy, XL, IPEX (FOXP3)
  • Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • MEHMO [Mental retard., Epilepsy, Hypogonadism/-genitalism, Microcephaly, Obesity] syndrome (EIF2S3)
  • Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
  • Microcephaly, epilepsy + diabetes syndrome 2 (YIPF5)
  • Mitchell-Riley syndrome, includes neonatal diabetes (RFX6)
  • Neonatal diabetes + generalised lipodystrophy [panelapp] (BSCL2)
  • Neonatal diabetes mellitus [MONDO:0016391] (IL2RA)
  • Neonatal diabetes, pancreatic agenesis and/or congenital heart defects (GATA4)
  • Pancreatic agenesis 1 (PDX1, PTF1A)
  • Pancreatic agenesis and congenital heart defects (GATA6)
  • Renal cell carcinoma (HNF1A, HNF1B)
  • Renal cysts and diabetes syndrome (HNF1B)
  • Wolcott-Rallison syndrome (EIF2AK3)
  • Wolfram syndrome 1 (WFS1)
  • Wolfram-like syndrome, AD (WFS1)
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 Dig und/oder Sus
  • AD und/oder Sus
  • AR
  • Meth
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E13.-

Bioinformatik und klinische Interpretation

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