Hyperinsulinemic Hypoglycemia, Familial, 3; Hhf3

Description

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperinsulinemic Hypoglycemia, Familial, 3; Hhf3

  • Intellectual disability
  • Seizures
  • Pica
  • Muscle weakness
  • Coma
  • Fatigue
  • Diabetes mellitus
  • Hypoglycemia
  • Type II diabetes mellitus
  • Hyperinsulinemia
And another 10 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hyperinsulinemic Hypoglycemia, Familial, 3; Hhf3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Congenital Hyperinsulinism Evaluation.

By Athena Diagnostics Inc in United States.

GCK, GLUD1, ABCC8, KCNJ11
Specificity
25 %
Genes
100 %
Neonatal Diabetes Mellitus Evaluation.

By Athena Diagnostics Inc in United States.

GCK, ABCC8, KCNJ11, INS, PDX1
Specificity
20 %
Genes
100 %
Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1).

By Athena Diagnostics Inc in United States.

HNF1A, HNF1B, GCK, PDX1, HNF4A
Specificity
20 %
Genes
100 %
GCK (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

GCK
Specificity
100 %
Genes
100 %
GCK (CH) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

GCK
Specificity
100 %
Genes
100 %
GCK (MODY2) DNA Sequencing and Deletion Test.

By Athena Diagnostics Inc in United States.

GCK
Specificity
100 %
Genes
100 %
Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A).

By Athena Diagnostics Inc in United States.

HNF1A, HNF1B, GCK, HNF4A
Specificity
25 %
Genes
100 %
Monogenic Diabetes (MODY) Three Gene Evaluation (GCK,HNF1A, HNF1B).

By Athena Diagnostics Inc in United States.

HNF1A, HNF1B, GCK
Specificity
34 %
Genes
100 %
Monogenic Diabetes (MODY) Two Gene Evaluation (GCK,HNF1A).

By Athena Diagnostics Inc in United States.

HNF1A, GCK
Specificity
50 %
Genes
100 %
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, CISD2, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Level 1: Congenital Hyperinsulinisim Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

GCK, GLUD1, ABCC8, KCNJ11
Specificity
25 %
Genes
100 %
Level 2: Expanded Congenital Hyperinsulinism Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

SLC16A1, GCK, GLUD1, ABCC8, KCNJ11, HADH
Specificity
17 %
Genes
100 %
Maturity-onset Diabetes of the Young Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, AKT2, PAX4, KLF11, BLK, INSR
Specificity
7 %
Genes
100 %
MODY Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, PAX4, KLF11, BLK, APPL1
Specificity
8 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism.

By Genetic Services Laboratory University of Chicago in United States.

GCK, ABCC8, KCNJ11
Specificity
34 %
Genes
100 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago in United States.

GCK, ABCC8, KCNJ11, INS, PDX1, FOXP3, GATA4, GATA6, EIF2AK3, NKX2-2, MNX1, ZFP57, PLAGL1, HYMAI
Specificity
8 %
Genes
100 %
GCK deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

GCK
Specificity
100 %
Genes
100 %
GCK sequencing.

By Genetic Services Laboratory University of Chicago in United States.

GCK
Specificity
100 %
Genes
100 %
Comprehensive Familial Hyperinsulinism Panel.

By Genetic Services Laboratory University of Chicago in United States.

HNF1A, SLC16A1, GCK, PGM1, UCP2, GLUD1, PMM2, ABCC8, KCNJ11, HNF4A, KMT2D, KDM6A, HADH, INSR
Specificity
8 %
Genes
100 %
MODY Panel.

By Genetic Services Laboratory University of Chicago in United States.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, PAX4, KLF11, BLK, APPL1
Specificity
8 %
Genes
100 %
Neonatal Diabetes Mellitus Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

GCK, ABCC8, KCNJ11, INS, PDX1, FOXP3, EIF2AK3, ZFP57
Specificity
13 %
Genes
100 %
Neonatal Diabetes Mellitus Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GCK, ABCC8, KCNJ11, INS, PDX1, FOXP3, GATA4, GATA6, EIF2AK3, NKX2-2, MNX1, ZFP57
Specificity
9 %
Genes
100 %
GCK-Related Hyperinsulinism.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

GCK
Specificity
100 %
Genes
100 %
Maturity onset diabetes of the young (MODY) Panel.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

HNF1A, HNF1B, GCK, HNF4A
Specificity
25 %
Genes
100 %
MODY Panel.

By Ambry Genetics in United States.

HNF1A, HNF1B, GCK, PDX1, HNF4A
Specificity
20 %
Genes
100 %
GCK mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

GCK
Specificity
100 %
Genes
100 %
GCK. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GCK
Specificity
100 %
Genes
100 %
HNF4,GCK,HNF1A,HNF1B, NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

HNF1A, HNF1B, GCK, HNF4A
Specificity
25 %
Genes
100 %
MODY 2 (sequence analysis of GCK gene).

By CGC Genetics in Portugal.

GCK
Specificity
100 %
Genes
100 %
GCK-Related Hyperinsulinism.

By CGC Genetics in Portugal.

GCK
Specificity
100 %
Genes
100 %
GCK-Related Permanent Neonatal Diabetes Mellitus.

By CGC Genetics in Portugal.

GCK
Specificity
100 %
Genes
100 %
MODY (deletion/duplication analysis of GCK, HNF1A, HNF1B and HNF4A genes).

By CGC Genetics in Portugal.

HNF1A, HNF1B, GCK, HNF4A
Specificity
25 %
Genes
100 %
Permanent neonatal diabetes mellitus (deletion/duplication analysis of GCK gene).

By CGC Genetics in Portugal.

GCK
Specificity
100 %
Genes
100 %
MODY (NGS panel for 13 genes).

By CGC Genetics in Portugal.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, PAX4, KLF11, BLK
Specificity
8 %
Genes
100 %
Diabetes mellitus permanent neonatal (NGS panel for 13 genes).

By CGC Genetics in Portugal.

PAX6, HNF1B, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, IER3IP1, RFX6, GLIS3, PTF1A, GATA6
Specificity
8 %
Genes
100 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
12 %
Genes
100 %
Familial hyperinsulinism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
12 %
Genes
100 %
Permanent neonatal diabetes mellitus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GCK, ABCC8, KCNJ11, INS
Specificity
25 %
Genes
100 %
Maturity-onset diabetes of the young, type 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GCK
Specificity
100 %
Genes
100 %
Permanent neonatal diabetes mellitus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GCK, ABCC8, KCNJ11, INS
Specificity
25 %
Genes
100 %
Hyperinsulinemic hypoglycemia familial 3.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GCK
Specificity
100 %
Genes
100 %
Permanent neonatal diabetes mellitus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GCK, ABCC8, KCNJ11, INS
Specificity
25 %
Genes
100 %
Maturity Onset Diabetes of the Young (Types 1 to 10).

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

HNF1A, NEUROD1, HNF1B, GCK, CEL, INS, PDX1, HNF4A, PAX4, KLF11, BLK
Specificity
10 %
Genes
100 %
Neonatal Diabetes Mellitus.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GCK, ABCC8, KCNJ11, INS, PDX1, ZFP57
Specificity
17 %
Genes
100 %
GCK-Related Hyperinsulinism.

By Exeter Molecular Genetics Laboratory in United Kingdom.

GCK
Specificity
100 %
Genes
100 %
Maturity-Onset Diabetes of the Young Subtype GCK.

By Exeter Molecular Genetics Laboratory in United Kingdom.

GCK
Specificity
100 %
Genes
100 %
Congenital Hyperinsulinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH
Specificity
12 %
Genes
100 %
Hyperglycemia and Hypoglycemia via GCK Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GCK
Specificity
100 %
Genes
100 %
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, KCNJ11, INS, PDX1, HNF4A, PAX4, KLF11, BLK, APPL1
Specificity
8 %
Genes
100 %
GCK.

By Department of Clinical Genetics Odense University Hospital in Denmark.

GCK
Specificity
100 %
Genes
100 %
Maturity-onset diabetes of the young type 2.

By Institute of Human Genetics Cologne University in Germany.

GCK
Specificity
100 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
ABCC8-Related Hyperinsulinism.

By Bioscientia GmbH Center for Human Genetics in Germany.

GCK
Specificity
100 %
Genes
100 %
Maturity-Onset Diabetes of the Young Type 2.

By Bioscientia GmbH Center for Human Genetics in Germany.

GCK
Specificity
100 %
Genes
100 %
Neonatal Diabetes.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

GCK, ABCC8, KCNJ11
Specificity
34 %
Genes
100 %
Maturity Onset Diabetes of the Young.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

HNF1A, NEUROD1, HNF1B, GCK, PDX1, HNF4A, KLF11
Specificity
15 %
Genes
100 %
Hyperinsulinism.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

GCK, GLUD1, ABCC8, KCNJ11
Specificity
25 %
Genes
100 %
MODY panel.

By Centogene AG - the Rare Disease Company in Germany.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, INS, PDX1, HNF4A, RFX6, PAX4, KLF11, BLK, NKX2-2, ZFP57
Specificity
7 %
Genes
100 %
Maturity-onset diabetes of the young type 2.

By Centogene AG - the Rare Disease Company in Germany.

GCK
Specificity
100 %
Genes
100 %
Hyperinsulinemic hypoglycemia type 3.

By Centogene AG - the Rare Disease Company in Germany.

GCK
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Maturity-Onset Diabetes of the Young Type 2.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

GCK
Specificity
100 %
Genes
100 %
ABCC8-Related Hyperinsulinism.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

GCK, GLUD1, ABCC8, KCNJ11, PDX1, HNF4A, HADH
Specificity
15 %
Genes
100 %
Maturity onset diabetes mellitus in young.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

HNF1A, NEUROD1, HNF1B, GCK, CEL, INS, PDX1, HNF4A, PAX4, KLF11, BLK
Specificity
10 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Single gene testing GCK.

By CeGaT GmbH in Germany.

GCK
Specificity
100 %
Genes
100 %
GCK.

By Innovagenomics Innovagenomics S.L in Spain.

GCK
Specificity
100 %
Genes
100 %
Maturity-Onset Diabetes of the Young Type 2 (GCK, MODY2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GCK
Specificity
100 %
Genes
100 %
Maturity Onset Diabetes of the Young (MODY).

By Asper Biogene Asper Biogene LLC in Estonia.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, RFX6, PAX4, KLF11, BLK, ZFP57
Specificity
7 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Maturity-onset diabetes of the young MODY.

By Health in Code in Spain.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Diabetes mellitus, gestational.

By Praxis fuer Humangenetik Wien in Austria.

GCK
Specificity
100 %
Genes
100 %
Diabetes mellitus, noninsulin-dependent, late onset.

By Praxis fuer Humangenetik Wien in Austria.

GCK
Specificity
100 %
Genes
100 %
Hyperinsulinemic hypoglycemia, familial, 3.

By Praxis fuer Humangenetik Wien in Austria.

GCK
Specificity
100 %
Genes
100 %
MODY 02.

By Praxis fuer Humangenetik Wien in Austria.

GCK
Specificity
100 %
Genes
100 %
GCK Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

GCK
Specificity
100 %
Genes
100 %
MODY 1/2/3 (Maturity onset diabetes of the young).

By Molecular Diagnosis Centre National University Hospital in Singapore.

HNF1A, GCK, HNF4A
Specificity
34 %
Genes
100 %
Diabetes mellitus, gestational.

By MedGene in Slovakia.

GCK
Specificity
100 %
Genes
100 %
Diabetes mellitus, noninsulin-dependent, late onset.

By MedGene in Slovakia.

GCK
Specificity
100 %
Genes
100 %
Hyperinsulinemic hypoglycemia, familial, 3.

By MedGene in Slovakia.

GCK
Specificity
100 %
Genes
100 %
MODY 02.

By MedGene in Slovakia.

GCK
Specificity
100 %
Genes
100 %
MODY type 2: GCK gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GCK
Specificity
100 %
Genes
100 %
DIABETES (MODY).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HNF1A, NEUROD1, HNF1B, GCK, KCNJ11, PDX1, HNF4A, SLC2A2, PAX4, KLF11, BLK
Specificity
10 %
Genes
100 %
Diabetes mellitus, neonatal permanent.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NEUROD1, PAX6, HNF1B, WFS1, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, FOXP3, RFX6, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3
Specificity
6 %
Genes
100 %
FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, OTC, SLC25A15, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
9 %
Genes
100 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Maturity Onset Diabetes of the Young (MODY): Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, GCK, PDX1, HNF4A
Specificity
25 %
Genes
100 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Diabetes-Obesity NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, ARL6, MKKS, CEP290, TTC8, TRIM32, GCK, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Hyperinsulinism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, HADH, INSR
Specificity
10 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
MODY Neonatal Diabetes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, GLUD1, CISD2, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, HADH, SLC2A2, AKT2, RFX6 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
GCK.

By Fulgent Genetics Fulgent Genetics in United States.

GCK
Specificity
100 %
Genes
100 %
MODY Panel.

By Blueprint Genetics in Finland.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, KCNJ11, INS, PDX1, HNF4A, RFX6, PAX4, KLF11, BLK
Specificity
8 %
Genes
100 %
Comprehensive Monogenic Diabetes Panel.

By Blueprint Genetics in Finland.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, RFX6, PAX4, KLF11 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
MODY syndrome type 2.

By Bioarray in Spain.

GCK
Specificity
100 %
Genes
100 %
Familial Hyperinsulinism NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
10 %
Genes
100 %
GCK Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GCK
Specificity
100 %
Genes
100 %
Maturity-Onset Diabetes of the Young NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, PAX4, KLF11, BLK
Specificity
8 %
Genes
100 %
GCK Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GCK
Specificity
100 %
Genes
100 %
Monogenic Diabetes NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, PAX4, KLF11 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM).

By Laboratorio de Genetica Clinica SL in Spain.

GCK, GLUD1, ABCC8, KCNJ11, INSR
Specificity
20 %
Genes
100 %
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

GCK
Specificity
100 %
Genes
100 %
DIABETES MODY & NEONATAL DIABETES : NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

HNF1A, NEUROD1, HNF1B, GCK, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, EIF2AK3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
MODY panel.

By LifeLabs Genetics in Canada.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, INS, PDX1, HNF4A, RFX6, PAX4, KLF11, BLK, NKX2-2, ZFP57
Specificity
7 %
Genes
100 %
Diabetes MODY Type 2, Sequencing GCK Gene.

By Reference Laboratory Genetics in Spain.

GCK
Specificity
100 %
Genes
100 %
Diabetes MODY Type 2 , Deletions-Duplications (MLPA) GCK Gene.

By Reference Laboratory Genetics in Spain.

GCK
Specificity
100 %
Genes
100 %
Diabetes MODY Types 1-2-3 , Deletions-Duplications (MLPA) HNF4A, GCK, HNF1A Genes.

By Reference Laboratory Genetics in Spain.

HNF1A, GCK, HNF4A
Specificity
34 %
Genes
100 %
Diabetes MODY, Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

HNF1A, NEUROD1, HNF1B, GCK, KCNJ11, PDX1, HNF4A, SLC2A2, PAX4, KLF11, BLK
Specificity
10 %
Genes
100 %
Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

NEUROD1, HNF1B, WFS1, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, FOXP3, RFX6, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3
Specificity
7 %
Genes
100 %
Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

HNF1A, SLC16A1, GCK, UCP2, GLUD1, OTC, SLC25A15, ABCC8, KCNJ11, HNF4A, HADH, INSR
Specificity
9 %
Genes
100 %
Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

SLC16A1, GCK, GLUD1, ABCC8, KCNJ11, HADH, INSR
Specificity
15 %
Genes
100 %
Maturity-onset diabetes of the young, type 2.

By Labor Dr. Wisplinghoff in Germany.

GCK
Specificity
100 %
Genes
100 %
Permanent Neonatal Diabetes Mellitus: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GCK, ABCC8, KCNJ11, INS, PDX1
Specificity
20 %
Genes
100 %

Alternate names

Hyperinsulinemic Hypoglycemia, Familial, 3; Hhf3 Is also known as ;hyperinsulinemic hypoglycemia due to glucokinase deficiency.


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