ALDOA gene related symptoms and diseases
All the information presented here about the ALDOA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALDOA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Respiratory tract infection | Very Common - Between 80% and 100% cases |
| Normocytic anemia | Very Common - Between 80% and 100% cases |
| Nonspherocytic hemolytic anemia | Very Common - Between 80% and 100% cases |
| Cholecystitis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALDOA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased muscle fatiguability
- Spherocytosis
- Rhabdomyolysis
- Cholelithiasis
- Low posterior hairline
- Hemolytic anemia
- Delayed puberty
- Jaundice
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALDOA gene
Here you will find a list of rare diseases related to the ALDOA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY
Alternate names
GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY Is also known as glycogenosis type xii, red cell aldolase deficiency, gsd type xii, gsd type 12, gsd xii, aldolase deficiency, red cell, aldoa deficiency, gsd due to aldolase a deficiency, glycogen storage disease type 12, glycogenosis type 12, glycogen storage disease type xii, gly
Description
Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.
Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY
- Intellectual disability
- Short stature
- Growth delay
- Muscle weakness
- Ptosis
More info about GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY
Search interest in ALDOA
Potential gene panels for ALDOA gene
ALDOA Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOA gene.
More info about this panel United States.
ALDOA Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOA gene.
More info about this panel United States.
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.
Red Blood Cell Enzymopathies 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 Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panel United States.
Hemolytic Anemia 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 Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8
More info about this panel United States.
ALDOA 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 ALDOA gene.
More info about this panel United States.
ALDOA Deletion/duplication analysis 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 ALDOA gene.
More info about this panel United States.
Hemolytic Anemia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2
More info about this panel United States.
Red Blood Cell Enzymopathies Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Deletion/Duplication Panel that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panel United States.
Hereditary Hemolytic Anemia Panel, Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA
More info about this panel United States.
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Glycogen Storage Disease and Gluconeogenesis Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panel Czech Republic.
Glycogen Storage Disease- Muscle Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Muscle that also includes the following genes: RBCK1 AGL ENO3 FBP2 GAA ALDOA GBE1 GYG1 GYS1 LDHA
More info about this panel United Kingdom.
Rhabdomyolysis Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 CAV3 RBCK1 CPT1B CPT2 ISCU AGL ENO3
More info about this panel United Kingdom.
Glycogen storage disease type XII (sequence analysis of ALDOA gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALDOA gene.
More info about this panel Portugal.
RBC Enzymopathies (NGS panel of 14 genes) Panel
Portugal.
By CGC Genetics RBC Enzymopathies (NGS panel of 14 genes) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panel Portugal.
Glycogen storage disease (NGS panel for 22 genes) Panel
Portugal.
By CGC Genetics Glycogen storage disease (NGS panel for 22 genes) that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panel Portugal.
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.
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A
More info about this panel United States.
Glycogen storage disease type 12 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ALDOA gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
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.
Glycogen Storage Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Glycogen Storage Disease that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1 GYG1
More info about this panel Estonia.
Metabolic Myopathy and Rhabdomyolysis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3
More info about this panel Estonia.
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8
More info about this panel Spain.
Invitae Muscle Glycogen Storage Disease Panel Panel
United States.
By Invitae Invitae Muscle Glycogen Storage Disease Panel that also includes the following genes: RBCK1 ENO3 GAA ALDOA GBE1 GYG1 GYS1 LAMP2 LDHA PFKM
More info about this panel United States.
Invitae Comprehensive Glycogen Storage Disease Panel Panel
United States.
By Invitae Invitae Comprehensive Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 RBCK1 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1
More info about this panel United States.
GLYCOGEN STORAGE DISEASE Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases GLYCOGEN STORAGE DISEASE that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panel Spain.
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
United States.
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59
More info about this panel United States.
ALDOA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALDOA gene.
More info about this panel United States.
Glycogen Storage Disorder Panel Panel
Finland.
By Blueprint Genetics Glycogen Storage Disorder Panel that also includes the following genes: SLC2A2 RBCK1 NHLRC1 AGL ENO3 EPM2A FBP1 G6PC SLC37A4 GAA
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.
Metabolic Myopathy and Rhabdomyolysis Panel Panel
Finland.
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
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.
GLYCOGEN STORAGE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL GLYCOGEN STORAGE: NGS PANEL that also includes the following genes: AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1 GYS2
More info about this panel Spain.
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