GLUD1 gene related symptoms and diseases

All the information presented here about the GLUD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GLUD1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Hypoglycemia Very Common - Between 80% and 100% cases
Hyperammonemia Very Common - Between 80% and 100% cases
Hyperglycemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GLUD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hyperinsulinemic hypoglycemia
  • Hypoglycemic seizures
  • Hypoglycemic coma
  • Asymptomatic hyperammonemia
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Rare diseases associated to GLUD1 gene

Here you will find a list of rare diseases related to the GLUD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPERINSULINISM-HYPERAMMONEMIA SYNDROME


Alternate names

HYPERINSULINISM-HYPERAMMONEMIA SYNDROME Is also known as hyperinsulinism-hyperammonemia syndrome, hi/ha syndrome

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.

Most common symptoms of HYPERINSULINISM-HYPERAMMONEMIA SYNDROME

  • Intellectual disability
  • Growth delay
  • Hypoglycemia
  • Hyperammonemia
  • Hyperglycemia


More info about HYPERINSULINISM-HYPERAMMONEMIA SYNDROME

SOURCES: MESH OMIM ORPHANET


Potential gene panels for GLUD1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Congenital Hyperinsulinism Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Hyperinsulinism Evaluation that also includes the following genes: GCK GLUD1 ABCC8 KCNJ11

More info about this panel

GLUD1 (CH) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the GLUD1 gene.

More info about this panel

Fatty Acid Oxidation Deficiency Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Fatty Acid Oxidation Deficiency that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB

More info about this panel

Level 1: Congenital Hyperinsulinisim Panel Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Level 1: Congenital Hyperinsulinisim Panel that also includes the following genes: GCK GLUD1 ABCC8 KCNJ11

More info about this panel

Level 2: Expanded Congenital Hyperinsulinism Panel Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Level 2: Expanded Congenital Hyperinsulinism Panel that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 KCNJ11

More info about this panel

MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1

More info about this panel

GLUD1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the GLUD1 gene.

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Comprehensive Familial Hyperinsulinism Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Familial Hyperinsulinism Panel that also includes the following genes: SLC16A1 HNF1A UCP2 KDM6A GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel

Urea Cycle Disease Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Urea Cycle Disease Panel that also includes the following genes: SLC25A13 SLC25A15 SLC7A7 CA5A NAGS GLUD1 ARG1 ASL ASS1 OTC

More info about this panel

Hyperammonaemia/Urea cycle disorders Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Hyperammonaemia/Urea cycle disorders that also includes the following genes: SLC25A13 SLC25A15 SLC7A7 NAGS GLUD1 ARG1 ASL MMUT ASS1 OAT

More info about this panel

GLUD1 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the GLUD1 gene.

More info about this panel

GLUD1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GLUD1 gene.

More info about this panel

Hyperinsulinism-hyperammonemia syndrome (sequence analysis of GLUD1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GLUD1 gene.

More info about this panel

Familial hyperinsulinism (NGS panel of 9 genes) Panel

Portugal.

By CGC Genetics Familial hyperinsulinism (NGS panel of 9 genes) that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11

More info about this panel

Familial hyperinsulinism (NGS panel of 9 genes) Panel

Portugal.

By CGC Genetics Familial hyperinsulinism (NGS panel of 9 genes) that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11

More info about this panel

Hyperinsulinism-hyperammonemia syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the GLUD1 gene.

More info about this panel

GLUD1-Related Hyperinsulinism Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the GLUD1 gene.

More info about this panel

Congenital Hyperinsulinism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Hyperinsulinism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 KCNJ11

More info about this panel

GLUD1-Related Congenital Hyperinsulinism via GLUD1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GLUD1 gene.

More info about this panel

Hyperammonemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyperammonemia Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SLC25A20 NAGS MMAA MMAB CPT1A CPT2

More info about this panel

GLUD1 Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the GLUD1 gene.

More info about this panel

GLUD1-Related Hyperinsulinism Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the GLUD1 gene.

More info about this panel

Hyperinsulinism Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Hyperinsulinism that also includes the following genes: GCK GLUD1 ABCC8 KCNJ11

More info about this panel

Glutamate dehydrogenase-1 deficiency (GLUD1) Panel

Netherlands.

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

This panel specifically test the GLUD1 gene.

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

Hyperinsulinemic hypoglycemia familial 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GLUD1 gene.

More info about this panel

ABCC8-Related Hyperinsulinism Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum ABCC8-Related Hyperinsulinism that also includes the following genes: GCK GLUD1 HADH HNF4A ABCC8 PDX1 KCNJ11

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Fatty Acid Oxidation Disorder Panel

Estonia.

By Asper Biogene Asper Biogene LLC Fatty Acid Oxidation Disorder that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1

More info about this panel

Invitae Treatable Neurometabolic Disorders Panel Panel

United States.

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2

More info about this panel

Hyperinsulinemic-hypoglycemia type 6, Familial: GLUD1 gene screening (exons 6-7, 11-12) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GLUD1 gene.

More info about this panel

Hyperinsulinemic-hypoglycemia type 6, Familial: GLUD1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GLUD1 gene.

More info about this panel

FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases FAMILIAR HYPERINSULINISM AND HYPERAMMONEMIA that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel

Hyperinsulinism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hyperinsulinism NGS Panel that also includes the following genes: SLC16A1 UCP2 GCK GLUD1 HADH HNF4A ABCC8 INS INSR PDX1

More info about this panel

MODY Neonatal Diabetes NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

Fatty Acid Oxidation Deficiency NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Fatty Acid Oxidation Deficiency NGS Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB

More info about this panel

GLUD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GLUD1 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Hyperammonemia and Urea Cycle Disorder Panel Panel

Finland.

By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS

More info about this panel

Comprehensive Monogenic Diabetes Panel Panel

Finland.

By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Fatty Acid Oxidation Syndrome Panel Panel

Finland.

By Blueprint Genetics Fatty Acid Oxidation Syndrome Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 ECHS1 ETFA ETFB

More info about this panel

Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel

Finland.

By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3

More info about this panel

Hyperinsulinism-hyperammonemia syndrome Panel

Spain.

By Bioarray

This panel specifically test the GLUD1 gene.

More info about this panel

Familial Hyperinsulinism NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Hyperinsulinism NGS and Deletion/Duplication Panel that also includes the following genes: SLC16A1 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR KCNJ11

More info about this panel

Monogenic Diabetes NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Monogenic Diabetes NGS and Deletion/Duplication Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 CEL

More info about this panel

FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) that also includes the following genes: GCK GLUD1 INSR KCNJ11

More info about this panel

DIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DIABETES MODY & NEONATAL DIABETES : NGS PANEL that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 NEUROG3 IER3IP1 ZFP57 RFX6 PTF1A

More info about this panel

FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA (FAMILIAL HYPERINSULINISM) NGS PANEL that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 INSR KCNJ11

More info about this panel

Familial Hypoglycemia Hyperinsulinemia Type 6 , Sequencing GLUD1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GLUD1 gene.

More info about this panel

Familial Hypoglycemia Hyperinsulinemia Type 6 , Sequencing Exons (6-7,11-12) GLUD1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GLUD1 gene.

More info about this panel

Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Hyperinsulinism-Hyperammonemia syndrome , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SLC16A1 SLC25A15 HNF1A UCP2 GCK GLUD1 HADH HNF4A ABCC8 INSR

More info about this panel

Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel

Spain.

By Reference Laboratory Genetics Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1

More info about this panel

Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hypoglycemia Hyperinsulinemia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC16A1 GCK GLUD1 HADH ABCC8 INSR KCNJ11

More info about this panel

Familial Hyperinsulinism: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hyperinsulinism: gene sequencing panel that also includes the following genes: UCP2 GCK GLUD1 HADH HNF4A ABCC8 KCNJ11

More info about this panel


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