SLC16A1 gene related symptoms and diseases
All the information presented here about the SLC16A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC16A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Feeding difficulties | Uncommon - Between 30% and 50% cases |
| Myoglobinuria | Uncommon - Between 30% and 50% cases |
| Exercise-induced muscle cramps | Uncommon - Between 30% and 50% cases |
| Exercise-induced muscle fatigue | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC16A1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Exercise-induced muscle stiffness
- Intellectual disability
- Global developmental delay
- Microcephaly
- Respiratory distress
- Muscle stiffness
- Atrial septal defect
- Vomiting
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC16A1 gene
Here you will find a list of rare diseases related to the SLC16A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EXERCISE-INDUCED HYPERINSULINISM
Alternate names
EXERCISE-INDUCED HYPERINSULINISM Is also known as hyperinsulinism due to slc16a1 deficiency, exercise-induced hyperinsulinemic hypoglycemia, hyperinsulinism due to monocarboxylate transporter 1 deficiency, eihi, hyperinsulinemic hypoglycemia, exercise-induced
Description
Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.
Most common symptoms of EXERCISE-INDUCED HYPERINSULINISM
- Seizures
- Neoplasm
- Hyperhidrosis
- Hypoglycemia
- Anxiety
More info about EXERCISE-INDUCED HYPERINSULINISM
METABOLIC MYOPATHY DUE TO LACTATE TRANSPORTER DEFECT
Alternate names
METABOLIC MYOPATHY DUE TO LACTATE TRANSPORTER DEFECT Is also known as erythrocyte lactate transporter defect, lactate transporter defect, myopathy due to
Description
Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
Most common symptoms of METABOLIC MYOPATHY DUE TO LACTATE TRANSPORTER DEFECT
- Pain
- Myopathy
- Elevated serum creatine phosphokinase
- Myalgia
- Chest pain
More info about METABOLIC MYOPATHY DUE TO LACTATE TRANSPORTER DEFECT
KETOACIDOSIS DUE TO MONOCARBOXYLATE TRANSPORTER-1 DEFICIENCY
Most common symptoms of KETOACIDOSIS DUE TO MONOCARBOXYLATE TRANSPORTER-1 DEFICIENCY
- Intellectual disability
- Global developmental delay
- Microcephaly
- Feeding difficulties
- Respiratory distress
More info about KETOACIDOSIS DUE TO MONOCARBOXYLATE TRANSPORTER-1 DEFICIENCY
Search interest in SLC16A1
Potential gene panels for SLC16A1 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.
NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
More info about this panel United States.
NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
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.
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.
Ketotic Hypoglycemia Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Seq + Del/Dup Panel that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panel United States.
Ketotic Hypoglycemia Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Del/Dup Panel that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panel United States.
Glycogen Storage Disease Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panel United States.
Ketotic Hypoglycemia Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Seq Analysis that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panel United States.
Glycogen Storage Disease Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq + Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panel United States.
Glycogen Storage Disease Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq Analysis that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panel United States.
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.
Hyperinsulinemic hypoglycemia, familial, 7 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SLC16A1 gene.
More info about this panel Germany.
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panel United States.
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.
Metabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Metabolic Hypoglycemia Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 ACSF3 AGL FBP1 G6PC SLC37A4 GALT ALDOB GYS2
More info about this panel United States.
SLC16A1 Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the SLC16A1 gene.
More info about this panel Slovakia.
Erythrocyte lactate transporter defect Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC16A1 gene.
More info about this panel Germany.
Hyperinsulinemic hypoglycemia type 7 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC16A1 gene.
More info about this panel Germany.
Monocarboxylate transporter 1 deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC16A1 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Metabolic Myopathies Panel Panel
Germany.
By CeGaT GmbH Metabolic Myopathies Panel that also includes the following genes: SLC16A1 SLC22A5 TAZ LPIN1 SLC25A20 PUS1 RBCK1 RRM2B ABHD5 ACAD9
More info about this panel Germany.
Monocarboxylate transporter 1 deficiency (SLC16A1) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SLC16A1 gene.
More info about this panel Germany.
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.
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.
SLC16A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC16A1 gene.
More info about this panel United States.
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.
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.
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.
SLC16A1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the SLC16A1 gene.
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) 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.
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.
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SMPX HUWE1