Hyperinsulinemic Hypoglycemia, Familial, 6; Hhf6

Description

Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.

Clinical Features

Phenotypes and symptoms related to Hyperinsulinemic Hypoglycemia, Familial, 6; Hhf6

  • Intellectual disability
  • Growth delay
  • Hypoglycemia
  • Hyperammonemia
  • Hyperglycemia
  • Hyperinsulinemic hypoglycemia
  • Hypoglycemic seizures
  • Hypoglycemic coma
  • Asymptomatic hyperammonemia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hyperinsulinemic Hypoglycemia, Familial, 6; Hhf6 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 %
GLUD1 (CH) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

GLUD1
Specificity
100 %
Genes
100 %
Fatty Acid Oxidation Deficiency.

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

ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, HMGCS2, TAZ, LPIN1, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20 , (...)

View the complete list with 2 more genes
Specificity
5 %
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 %
MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ACAD9, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, TAZ, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH
Specificity
6 %
Genes
100 %
GLUD1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GLUD1
Specificity
100 %
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 %
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 %
Urea Cycle Disease Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

ARG1, CPS1, SLC25A13, GLUD1, OTC, SLC25A15, NAGS, ASS1, ASL, SLC7A7, CA5A
Specificity
10 %
Genes
100 %
Hyperammonaemia/Urea cycle disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

ARG1, CPS1, SLC25A13, GLUD1, PCCB, PCCA, OTC, OAT, MUT, SLC25A15, NAGS, ASS1, ASL, SLC7A7
Specificity
8 %
Genes
100 %
GLUD1 mutation analysis.

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

GLUD1
Specificity
100 %
Genes
100 %
GLUD1. Complete sequencing.

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

GLUD1
Specificity
100 %
Genes
100 %
Hyperinsulinism-hyperammonemia syndrome (sequence analysis of GLUD1 gene).

By CGC Genetics in Portugal.

GLUD1
Specificity
100 %
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 %
Hyperinsulinism-hyperammonemia syndrome.

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

GLUD1
Specificity
100 %
Genes
100 %
GLUD1-Related Hyperinsulinism.

By Exeter Molecular Genetics Laboratory in United Kingdom.

GLUD1
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 %
GLUD1-Related Congenital Hyperinsulinism via the GLUD1 Gene.

By PreventionGenetics PreventionGenetics in United States.

GLUD1
Specificity
100 %
Genes
100 %
Hyperammonemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ARG1, HLCS, MMACHC, CPS1, CPT2, SLC25A13, HADHA, TMEM70, HADHB, GLUD1, PCCB, PCCA, HMGCS2, OTC, MMADHC , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
GLUD1.

By Department of Clinical Genetics Odense University Hospital in Denmark.

GLUD1
Specificity
100 %
Genes
100 %
GLUD1-Related Hyperinsulinism.

By Bioscientia GmbH Center for Human Genetics in Germany.

GLUD1
Specificity
100 %
Genes
100 %
Hyperinsulinism.

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

GCK, GLUD1, ABCC8, KCNJ11
Specificity
25 %
Genes
100 %
Glutamate dehydrogenase-1 deficiency (GLUD1).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

GLUD1
Specificity
100 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
100 %
Hyperinsulinemic hypoglycemia familial 6.

By Centogene AG - the Rare Disease Company in Germany.

GLUD1
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 %
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 %
Fatty Acid Oxidation Disorder.

By Asper Biogene Asper Biogene LLC in Estonia.

ACAD9, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, HMGCS2, TAZ, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH
Specificity
5 %
Genes
100 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Hyperinsulinemic-hypoglycemia type 6, Familial: GLUD1 gene screening (exons 6-7, 11-12).

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

GLUD1
Specificity
100 %
Genes
100 %
Hyperinsulinemic-hypoglycemia type 6, Familial: GLUD1 gene sequence analysis.

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

GLUD1
Specificity
100 %
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 %
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 %
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 %
Fatty Acid Oxidation Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, HMGCS2, TAZ, LPIN1, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
GLUD1.

By Fulgent Genetics Fulgent Genetics in United States.

GLUD1
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 %
Hyperammonemia and Urea Cycle Disorder Panel.

By Blueprint Genetics in Finland.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, PC, ARG1, HLCS, BCKDHA, BCKDHB, MMACHC, CPS1, CPT2, DLD, SLC25A13, HADHA, TMEM70, HMGCL, SUCLA2, HADHB , (...)

View the complete list with 28 more genes
Specificity
3 %
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 %
Fatty Acid Oxidation Syndrome Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, ACAD8, ACADSB, HADHB, GLUD1, HMGCS2, TAZ, ALDH5A1, LPIN1, CPT1A, ETFB , (...)

View the complete list with 6 more genes
Specificity
4 %
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 %
Hyperinsulinism-hyperammonemia syndrome.

By Bioarray in Spain.

GLUD1
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 %
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 %
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 %
Familial Hypoglycemia Hyperinsulinemia Type 6 , Sequencing GLUD1 Gene.

By Reference Laboratory Genetics in Spain.

GLUD1
Specificity
100 %
Genes
100 %
Familial Hypoglycemia Hyperinsulinemia Type 6 , Sequencing Exons (6-7,11-12) GLUD1 Gene.

By Reference Laboratory Genetics in Spain.

GLUD1
Specificity
100 %
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 %
Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes.

By Reference Laboratory Genetics in Spain.

ACAD9, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, TAZ, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH
Specificity
6 %
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 %

Alternate names

Hyperinsulinemic Hypoglycemia, Familial, 6; Hhf6 Is also known as hyperinsulinism-hyperammonemia syndrome;hi/ha syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3 TRICHOHEPATOENTERIC SYNDROME 1; THES1 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more