ALDOB gene related symptoms and diseases
All the information presented here about the ALDOB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALDOB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Neonatal hypoglycemia | Very Common - Between 80% and 100% cases |
| Meningitis | Very Common - Between 80% and 100% cases |
| Hyperbilirubinemia | Very Common - Between 80% and 100% cases |
| Shock | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALDOB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypokalemia
- Malnutrition
- Hypophosphatemia
- Glycosuria
- Prolonged neonatal jaundice
- Hyperuricemia
- Renal tubular acidosis
- Ketosis
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALDOB gene
Here you will find a list of rare diseases related to the ALDOB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY FRUCTOSE INTOLERANCE
Alternate names
HEREDITARY FRUCTOSE INTOLERANCE Is also known as aldolase b deficiency, hereditary fructose-1-phosphate aldolase deficiency, hereditary fructosemia, fructose-1,6-bisphosphate aldolase b deficiency, fructose-1-phosphate aldolase deficiency, fructosemia, aldob deficiency
Description
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.
Most common symptoms of HEREDITARY FRUCTOSE INTOLERANCE
- Intellectual disability
- Seizures
- Growth delay
- Failure to thrive
- Pain
More info about HEREDITARY FRUCTOSE INTOLERANCE
Search interest in ALDOB
Potential gene panels for ALDOB gene
ALDOB Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOB gene.
More info about this panel United States.
ALDOB Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOB gene.
More info about this panel United States.
ALDOB Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOB gene.
More info about this panel United States.
ALDOB, FBP1,GYS2 & PC Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories ALDOB, FBP1,GYS2 & PC Sequence Analysis that also includes the following genes: FBP1 ALDOB GYS2 PC
More info about this panel United States.
ALDOB Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOB 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.
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Gluconeogenesis Disorders Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Gluconeogenesis Disorders that also includes the following genes: FBP1 ALDOB GYS2 PC
More info about this panel United States.
Liver Diseases Deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panel United States.
Liver Diseases 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 Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
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.
ALDOB. Detection of the mutations p.Ala150Pro, p.Ala175Asp and p.Asn335Lys by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALDOB gene.
More info about this panel Spain.
ALDOB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALDOB gene.
More info about this panel Spain.
Fructose intolerance (sequence analysis of ALDOB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALDOB gene.
More info about this panel Portugal.
Fructose intolerance (sequence analysis of ALDOB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALDOB gene.
More info about this panel Portugal.
Frutosis intolerance (deletions/duplications analysis of ALDOB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALDOB gene.
More info about this panel Portugal.
Frutosis intolerance (deletions/duplications analysis of ALDOB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALDOB gene.
More info about this panel Portugal.
Hereditary Fructose Intolerance Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the ALDOB gene.
More info about this panel Netherlands.
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.
Hereditary Fructose Intolerance via ALDOB Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ALDOB gene.
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.
Hereditary Fructose Intolerance Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ALDOB gene.
More info about this panel Germany.
Aldolase B deficiency (ALDOB) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ALDOB gene.
More info about this panel Netherlands.
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.
Fructose intolerance Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ALDOB gene.
More info about this panel Germany.
Fructose intolerance, hereditary Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the ALDOB gene.
More info about this panel Germany.
Single gene testing ALDOB Panel
Germany.
By CeGaT GmbH
This panel specifically test the ALDOB gene.
More info about this panel Germany.
Hereditary Fructose Intolerance - ALDOB Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the ALDOB gene.
More info about this panel Sweden.
Fructosemia Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the ALDOB gene.
More info about this panel Poland.
Hereditary Fructose Intolerance (ALDOB) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ALDOB gene.
More info about this panel Germany.
Fructose intolerance Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ALDOB gene.
More info about this panel Austria.
Fructose intolerance Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ALDOB gene.
More info about this panel Austria.
ALDOB Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the ALDOB gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Fructose intolerance Panel
Slovakia.
By MedGene
This panel specifically test the ALDOB gene.
More info about this panel Slovakia.
Fructose intolerance Panel
Slovakia.
By MedGene
This panel specifically test the ALDOB gene.
More info about this panel Slovakia.
Invitae Hereditary Fructose Intolerance Test Panel
United States.
By Invitae
This panel specifically test the ALDOB gene.
More info about this panel United States.
Aldolase B (hereditary fructose intolerance): ALDOB gene mutations analysis (p.A149P, p.A174D, p.N334K) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ALDOB gene.
More info about this panel Spain.
Aldolase B (hereditary fructose intolerance): ALDOB gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ALDOB gene.
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Hereditary Fructose Intolerance: ALDOB full gene sequence analysis Panel
Brazil.
By DLE - Diagnosticos Laboratoriais Especializados
This panel specifically test the ALDOB gene.
More info about this panel Brazil.
Hereditary Fructose Intolerance (ALDOB) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ALDOB gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
ALDOB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALDOB gene.
More info about this panel United States.
Hereditary Fructose Intolerance (HFI) Panel
United States.
By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory
This panel specifically test the ALDOB gene.
More info about this panel United States.
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.
Congenital Mono- and Disaccharide Disorders Panel Panel
Finland.
By Blueprint Genetics Congenital Mono- and Disaccharide Disorders Panel that also includes the following genes: SI SLC2A1 SLC2A2 SLC5A1 GALE GALK1 GALT ALDOB LCT
More info about this panel Finland.
Metabolic Liver Failure Panel Panel
Finland.
By Blueprint Genetics Metabolic Liver Failure Panel that also includes the following genes: SMPD1 NPC2 FAH GALE GALK1 GALT ALDOB LIPA MPI NPC1
More info about this panel Finland.
Hereditary fructose intolerance Panel
Spain.
By Bioarray
This panel specifically test the ALDOB gene.
More info about this panel Spain.
Aldolase B (Hereditary Intolerance To Fructose) , Sequencing ALDOB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ALDOB gene.
More info about this panel Spain.
Hereditary Fructose Intolerance, Mutations (A149P, A174D, N334K and del4E4) ALDOB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ALDOB gene.
More info about this panel Spain.
Hereditary Fructose Intolerance , Panel Massive Sequencing (NGS) ALDOB, FBP1 Genes Panel
Spain.
By Reference Laboratory Genetics Hereditary Fructose Intolerance , Panel Massive Sequencing (NGS) ALDOB, FBP1 Genes that also includes the following genes: FBP1 ALDOB
More info about this panel Spain.
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
Spain.
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panel Spain.
Hereditary Fructose Intolerance Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the ALDOB gene.
More info about this panel Germany.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
Hereditary Fructose Intolerance: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ALDOB gene.
More info about this panel Canada.
Hereditary Fructose Intolerance: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ALDOB gene.
More info about this panel Canada.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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