©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHyperinsulinism, congenital; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Hyperinsulinism, congenital familial, comprising 5 guideline-curated genes and altogether 24 curated genes

ID
HP0770
Number of genes
24 Accredited laboratory test
Examined sequence length
25,1 kb (Core-/Core-canditate-Genes)
75,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCC84746NM_000352.6AD, AR
AKT21446NM_001626.6AD
FOXA21392NM_021784.5AD
GCK1398NM_000162.5AD
GLUD11677NM_005271.5AD
GPC31743NM_004484.4XLR
HADH945NM_005327.7AR
HNF1A1896NM_000545.8AD
HNF4A1359NM_175914.4AD
INSR4149NM_000208.4AD
KCNJ111173NM_000525.4AD, AR
PMM2741NM_000303.3AR
SLC16A11503NM_003051.4AD
UCP2930NM_003355.3AD
CACNA1C6417NM_000719.7AD
CACNA1D6546NM_000720.4AR
CDKN1C951NM_000076.2AD
CYP21A21488NM_000500.9AR
HK12754NM_000188.3AD
KDM6A4206NM_021140.4XL
KMT2D16614NM_003482.4AD
NR0B11413NM_000475.5XL
NSD18091NM_022455.5AD
PGM11743NM_002633.3AR

Informations about the disease

Clinical Comment

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/

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined