IllnessHyperinsulinism, congenital; differential diagnosis

NGS +

[Sanger]

Congenital hyperinsulinism causes hypoglycemia with lethargy, irritability, or difficulty eating. Repeated episodes increase the risk of more serious complications (respiratory problems, seizures, vision loss, intellectual deficits, brain damage, coma). The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. Approximately 60% of affected children experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia in early infancy. Mutations in the ABCC8 gene are the most common known cause; less commonly, mutations are found in KCNJ11 and many other genes. Currently, depending on previous clinical findings, clear and reliable molecular genetic diagnoses are achieved in at least 60% of patients. Clinical diagnosis cannot be excluded by a negative molecular genetic result.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1375/

• Alias: Congenital hyperinsulinism, included
• Alias: Familial hyperinsulinemic hypoglycemia
• Alias: Konnatale Hyperinsulinämie
• Allelic: 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)
• Allelic: 46XY sex reversal 2, dosage-sensitive (NR0B1)
• Allelic: Adrenal adenoma, somatic (MEN1)
• Allelic: Angiofibroma, somatic (MEN1)
• 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, noninsulin-dependent (ABCC8)
• Allelic: Diabetes mellitus, noninsulin-dependent (HNF4A)
• Allelic: Diabetes mellitus, noninsulin-dependent, 2 (HNF1A)
• Allelic: Diabetes mellitus, noninsulin-dependent, late onset (GCK)
• Allelic: Diabetes mellitus, permanent neonatal 1 (GCK)
• Allelic: Diabetes mellitus, permanent neonatal 3, with or without neurologic features (ABCC8)
• 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 (AKT2)
• Allelic: Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
• Allelic: Erythrocyte lactate transporter defect (SLC16A1)
• Allelic: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
• Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
• Allelic: Hepatic adenoma, somatic (HNF1A)
• Allelic: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
• Allelic: IMAGE syndrome (CDKN1C)
• Allelic: Leprechaunism (INSR)
• Allelic: Lipoma, somatic ((MEN1)
• Allelic: MODY, type I (HNF4A)
• Allelic: MODY, type II (GCK)
• Allelic: MODY, type III (HNF1A)
• Allelic: Maturity-onset diabetes of the young, type 13 (KCNJ11)
• Allelic: Monocarboxylate transporter 1 deficiency (SLC16A1)
• Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Allelic: Parathyroid adenoma, somatic (MEN1)
• Allelic: Rabson-Mendenhall syndrome (INSR)
• Allelic: Renal cell carcinoma (HNF1A)
• Allelic: Retinitis pigmentosa 79 (HK1)
• Allelic: Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Allelic: Wilms tumor, somatic (GPC3)
• Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
• Adrenal hypoplasia, congenital (NR0B1)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Diabetes mellitus, insulin-dependent (HNF1A)
• 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, hypopituitarism, craniofacial + endoderm-derived organ abnormalities (FOXA2)
• Hyperinsulinism-hyperammonemia syndrome (GLUD1)
• Hypoglycemia of infancy, leucine-sensitive (ABCC8)
• Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
• Multiple endocrine neoplasia 1 (MEN1)
• Schaaf-Yang syndrome (MAGEL2)