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)
40,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ABCC8 | 4746 | AD und/oder AR | |
EIF2AK3 | 3351 | AR | |
FOXP3 | 1296 | XLR | |
GATA4 | 1329 | AD | |
GATA6 | 1788 | AD | |
GCK | 1398 | AD und/oder AR | |
GLIS3 | 2328 | AR | |
HNF1A | 1896 | AD und/oder AR und/oder Dig und/oder Sus | |
HNF1B | 1674 | AD und/oder Sus | |
HNF4A | 1359 | AD und/oder Dig und/oder Sus | |
IER3IP1 | 249 | AR | |
INS | 333 | AD und/oder AR | |
KCNJ11 | 1173 | AD und/oder AR und/oder Ass | |
NEUROD1 | 1071 | AD und/oder AR | |
NEUROG3 | 645 | AR | |
NKX2-2 | 822 | AR | |
PAX6 | 1269 | AD und/oder AR | |
PDX1 | 852 | AD und/oder AR und/oder Dig und/oder Sus | |
PTF1A | 987 | AR | |
RFX6 | 2787 | AR | |
SLC19A2 | 1494 | AR | |
SLC2A2 | 1575 | AD und/oder AR | |
WFS1 | 2673 | AD und/oder AR | |
CISD2 | 408 | AR | |
PLAGL1 | 1392 | Meth | |
ZFP57 | 1611 | AD |
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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