Hyperinsulinemic Hypoglycemia, Familial, 2; Hhf2

Description

Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperinsulinemic Hypoglycemia, Familial, 2; Hhf2

  • Neoplasm
  • Diarrhea
  • Vomiting
  • Hypoglycemia
  • Postural instability
  • Abnormality of the cardiovascular system
  • Growth abnormality
  • Large for gestational age
  • Hyperinsulinemic hypoglycemia
  • Pancreatic islet-cell hyperplasia
And another 1 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Hyperinsulinemic Hypoglycemia, Familial, 2; Hhf2 have a estimated birth prevalence of 2 per 100k in Europe.


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Hyperinsulinemic Hypoglycemia, Familial, 2; Hhf2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Hyperinsulinism Evaluation.

By Athena Diagnostics Inc in United States.

GCK, GLUD1, ABCC8, KCNJ11
Specificity
25 %
Genes
100 %
KCNJ11 (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

KCNJ11
Specificity
100 %
Genes
100 %
Neonatal Diabetes Mellitus Evaluation.

By Athena Diagnostics Inc in United States.

GCK, ABCC8, KCNJ11, INS, PDX1
Specificity
20 %
Genes
100 %
KCNJ11 (CH) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

KCNJ11
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc in United States.

UBE3A, ADSL, SLC25A19, MECP2, LIAS, STXBP1, SLC25A22, ALG9, GLDC, AMT, SLC9A6, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, SCN1A, KCNJ11 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
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 %
KCNJ11 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

KCNJ11
Specificity
100 %
Genes
100 %
KCNJ11 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

KCNJ11
Specificity
100 %
Genes
100 %
KCNJ11 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

KCNJ11
Specificity
100 %
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 %
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 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, GLDC, AMT, SLC9A6, SUOX, ALDH7A1, MOCS1, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
KCNJ11 mutation analysis.

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

KCNJ11
Specificity
100 %
Genes
100 %
KCNJ11. Complete sequencing.

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

KCNJ11
Specificity
100 %
Genes
100 %
KCNJ11. Complete sequencing.

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

KCNJ11
Specificity
100 %
Genes
100 %
Permanent neonatal diabetes mellitus (deletion/duplication analysis of KCNJ11 gene).

By CGC Genetics in Portugal.

KCNJ11
Specificity
100 %
Genes
100 %
Hyperinsulinemic hypoglycemia, familial, 2 (deletion/duplication analysis of KCNJ11 gene).

By CGC Genetics in Portugal.

KCNJ11
Specificity
100 %
Genes
100 %
Hyperinsulinemic hypoglycemia, familial, 2 (sequence analysis of KCNJ11 gene).

By CGC Genetics in Portugal.

KCNJ11
Specificity
100 %
Genes
100 %
Permanent neonatal diabetes mellitus (sequence analysis of KCNJ11 gene).

By CGC Genetics in Portugal.

KCNJ11
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 %
Islet cell hyperplasia.

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

KCNJ11
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 %
Transient neonatal diabetes mellitus 3.

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

KCNJ11
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 %
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 %
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 %
KCNJ11-Related Hyperinsulinism.

By Exeter Molecular Genetics Laboratory in United Kingdom.

KCNJ11
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 %
KCNJ11-Related Congenital Hyperinsulinism via KCNJ11 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KCNJ11
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 %
KCNJ11.

By Department of Clinical Genetics Odense University Hospital in Denmark.

KCNJ11
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
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 %
KCNJ11-Related Hyperinsulinism.

By Bioscientia GmbH Center for Human Genetics in Germany.

KCNJ11
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 %
Hyperinsulinism.

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

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

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
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 %
Diabetes mellitus noninsulin-dependent.

By Centogene AG - the Rare Disease Company in Germany.

KCNJ11
Specificity
100 %
Genes
100 %
Diabetes mellitus transient neonatal 3.

By Centogene AG - the Rare Disease Company in Germany.

KCNJ11
Specificity
100 %
Genes
100 %
Hyperinsulinemic hypoglycemia familial 2.

By Centogene AG - the Rare Disease Company in Germany.

KCNJ11
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 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, permanent neonatal.

By Praxis fuer Humangenetik Wien in Austria.

KCNJ11
Specificity
100 %
Genes
100 %
Diabetes mellitus, permanent neonatal.

By Praxis fuer Humangenetik Wien in Austria.

KCNJ11
Specificity
100 %
Genes
100 %
Hyperinsulinemic hypoglycemia, familial, 2.

By Praxis fuer Humangenetik Wien in Austria.

KCNJ11
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Diabetes mellitus, permanent neonatal.

By MedGene in Slovakia.

KCNJ11
Specificity
100 %
Genes
100 %
Diabetes mellitus, permanent neonatal.

By MedGene in Slovakia.

KCNJ11
Specificity
100 %
Genes
100 %
Hyperinsulinemic hypoglycemia, familial, 2.

By MedGene in Slovakia.

KCNJ11
Specificity
100 %
Genes
100 %
Diabetes mellitus, Permanent neonatal: KCNJ11 gene sequence analysis.

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

KCNJ11
Specificity
100 %
Genes
100 %
Hyperinsulinemic-hypoglycemia type 2, Familial: KCNJ11 gene sequence analysis.

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

KCNJ11
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 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
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 %
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 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
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 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
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 %
KCNJ11.

By Fulgent Genetics Fulgent Genetics in United States.

KCNJ11
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
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 %
Diabetes mellitus, transient neonatal, 3.

By Bioarray in Spain.

KCNJ11
Specificity
100 %
Genes
100 %
Permanent neonatal diabetes mellitus.

By Bioarray in Spain.

KCNJ11
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
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 %
KCNJ11 Gene Sequencing and Deletion/Duplication Analysis.

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

KCNJ11
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 %
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 %
DIABETES MELLITUS, NEONATAL.

By Laboratorio de Genetica Clinica SL in Spain.

ABCC8, KCNJ11
Specificity
50 %
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 13.

By Laboratorio de Genetica Clinica SL in Spain.

KCNJ11
Specificity
100 %
Genes
100 %
NESIDIOBLASTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

KCNJ11
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 %
Permanent Neonatal Diabetes Mellitus, Sequencing KCNJ11 Gene.

By Reference Laboratory Genetics in Spain.

KCNJ11
Specificity
100 %
Genes
100 %
Transient Neonatal Diabetes Mellitus Type 3 , Sequencing KCNJ11 Gene.

By Reference Laboratory Genetics in Spain.

KCNJ11
Specificity
100 %
Genes
100 %
Familial Hypoglycemia Hyperinsulinemia Type 2 , Sequencing KCNJ11 Gene.

By Reference Laboratory Genetics in Spain.

KCNJ11
Specificity
100 %
Genes
100 %
Permanent Neonatal Diabetes Mellitus , Deletions-Duplications (MLPA) KCNJ11 Gene.

By Reference Laboratory Genetics in Spain.

KCNJ11
Specificity
100 %
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 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
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, 2; Hhf2 Is also known as persistent hyperinsulinemic hypoglycemia of infancy;phhi, hyperinsulinemic hypoglycemia, persistent, hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia, hyperinsulinism, neonatal, hyperinsulinism, congenital, hyperinsulinism, familial, nesidioblastosis;chi; phhi; persistent hyperinsulinemic hypoglycemia of infancy.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3 POLYCYSTIC KIDNEY DISEASE 1; PKD1 PITUITARY ADENOMA, PROLACTIN-SECRETING CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1; CRMCC1

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