IllnessHypoglycaemia, familial hyperinsulinism; differential diagnosis
Summary
Comprehensive differential diagnostic panel for Hypoglycemia/familial hyperinsulinism comprising 4 guideline-curated core genes, 12 core candidate genes and altogether 29 curated genes according to the clinical signs
69,3 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
ABCC8 | 4746 | AD, AR | |
FOXA2 | 1392 | AD | |
GCK | 1398 | AD | |
GLUD1 | 1677 | AD | |
HADH | 945 | AR | |
HNF1A | 1896 | AD | |
HNF4A | 1359 | AD | |
INSR | 4149 | AD | |
KCNJ11 | 1173 | AD, AR | |
KDM6A | 4206 | XLR | |
PMM2 | 741 | AR | |
SLC16A1 | 1503 | AD | |
AKT2 | 1446 | AD | |
CACNA1D | 6546 | AR | |
CDKN1C | 951 | AD | |
FBP1 | 1017 | AR | |
G6PC1 | 1074 | AR | |
GPC3 | 1743 | XLR | |
GYS1 | 2022 | AR | |
GYS2 | 2112 | AR | |
HK1 | 2754 | AD | |
KMT2D | 16614 | AD | |
MAFA | 1062 | AD | |
MEN1 | 1833 | AD | |
NR0B1 | 1413 | XL | |
PYGL | 2544 | AR | |
UCP2 | 930 | AD |
Informations about the disease
Groupe of diseases: Hypoglycaemia + familial hyperinsulinism range from severe neonatal onset to childhood onset with mild symptoms. Neonatal-onset disease manifests within hours to days after birth. In the newborn period, presenting symptoms may be nonspecific, including seizures, hypotonia, poor feeding, apnea. Childhood-onset disease manifests during the first months/years of life, can present with an unprovoked seizures or be asymptomatic. Within the same family, symptom manifestations can range from mild to severe.
- Allelic: 46XY sex reversal 2, dosage-sensitive (NR0B1)
- Allelic: Carcinoid tumor of lung (MEN1)
- Allelic: Diabetes mellitus, insulin-dependent, 20 (HNF1A)
- Allelic: Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
- Allelic: Diabetes mellitus, type II (AKT2)
- Allelic: Erythrocyte lactate transporter defect (SLC16A1)
- Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
- Allelic: IMAGE syndrome (CDKN1C)
- Allelic: Leprechaunism (INSR)
- Allelic: MODY, type I (HNF4A)
- Allelic: MODY, type II (GCK)
- Allelic: MODY, type III (HNF1A)
- Allelic: Monocarboxylate transporter 1 deficiency (SLC16A1)
- Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
- Allelic: Obesity, susceptibility to, BMIQ4 (UCP2)
- Allelic: Rabson-Mendenhall syndrome (INSR)
- Allelic: Renal cell carcinoma (HNF1A)
- Allelic: Retinitis pigmentosa 79 (HK1)
- Allelic: Sinoatrial node dysfunction + deafness (CACNA1D)
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
- Adrenal hypoplasia, congenital (NR0BB1)
- Allelic: Brugada syndrome 3 (CACNA1C)
- Allelic: Long QT syndrome 8 (CACNA1C)
- Beckwith-Wiedemann syndrome (CDKN1C)
- Congenital disorder of glycosylation, type Ia (PMM2)
- Diabetes mellitus, insulin-dependent (HNF1A)
- Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
- Fructose-1,6-bisphosphatase deficiency (FBP1)
- Glycogen storage disease 0, liver (GYS2)
- Glycogen storage disease 0, muscle (GYS1)
- Glycogen storage disease Ia (G6PC1)
- Glycogen storage disease VI (PYGL)
- Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
- Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
- Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
- Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
- Hyperinsulinemic hypoglycemia, familial, 4 (HADH)
- Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
- Hyperinsulinemic hypoglycemia, familial, 7 (SLC16A1)
- Hyperinsulinism, AD [panelapp] (HNF1A)
- Hyperinsulinism, hypopituitarism, craniofac. + endoderm-deriv. organ abnorm., AD [panelapp] (FOXA2)
- Hyperinsulinism-hyperammonemia syndrome (GLUD1)
- Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
- Insulinomatosis + diabetes mellitus (MAFA)
- Kabuki syndrome 1 (KMT2D)
- Kabuki syndrome 2 (KDM6A)
- Multiple endocrine neoplasia 1 (MEN1)
- Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
- Neurodevelopmental disorder. hypotonia, language delay, skeletal defects +/- seizures (CACNA1C)
- Primary aldosteronism, seizures, neurologic abnormalities (CANA1D)
- Schaaf-Yang syndrome (MAGEL2)
- Simpson-Golabi-Behmel syndrome, type (GPC3)
- Sotos syndrome (NSD1)
- Timothy syndrome (CACNA1C)
- AD
- AR
- XL
- XLR
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
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