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
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
Search interest in GLUD1
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 United States.
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 United States.
GLUD1 (CH) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the GLUD1 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Argentina.
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 United Kingdom.
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 Netherlands.
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
GLUD1-Related Hyperinsulinism Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the GLUD1 gene.
More info about this panel United Kingdom.
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 United States.
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 United States.
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 United States.
GLUD1 Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the GLUD1 gene.
More info about this panel Slovakia.
GLUD1-Related Hyperinsulinism Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GLUD1 gene.
More info about this panel Germany.
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 Germany.
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 Netherlands.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Estonia.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
GLUD1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLUD1 gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Hyperinsulinism-hyperammonemia syndrome Panel
Spain.
By Bioarray
This panel specifically test the GLUD1 gene.
More info about this panel Spain.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Canada.
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