IllnessHypoglykämie, familiärer Hyperinsulinismus; Differentialdiagnose

NGS +

[Sanger]

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)