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.

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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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: MESH OMIM ORPHANET

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

SOURCES: ORPHANET OMIM


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

SLC16A1 Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the SLC16A1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

SLC16A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC16A1 gene.

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

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

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

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

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) 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

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

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


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