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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHypoglycaemia, familial hyperinsulinism; differential diagnosis

Summary

Short information

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

ID
HP0410
Number of genes
27 Accredited laboratory test
Examined sequence length
25,2 kb (Core-/Core-canditate-Genes)
69,3 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-GHeredity
ABCC84746AD, AR
FOXA21392AD
GCK1398AD
GLUD11677AD
HADH945AR
HNF1A1896AD
HNF4A1359AD
INSR4149AD
KCNJ111173AD, AR
KDM6A4206XLR
PMM2741AR
SLC16A11503AD
AKT21446AD
CACNA1D6546AR
CDKN1C951AD
FBP11017AR
G6PC11074AR
GPC31743XLR
GYS12022AR
GYS22112AR
HK12754AD
KMT2D16614AD
MAFA1062AD
MEN11833AD
NR0B11413XL
PYGL2544AR
UCP2930AD

Informations about the disease

Clinical Comment

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.

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
P70.4

Bioinformatics and clinical interpretation

No text defined