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.

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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

SOURCES: OMIM ORPHANET


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

ALDOB Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALDOB gene.

More info about this panel

ALDOB Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALDOB gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

Fructose intolerance (sequence analysis of ALDOB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALDOB gene.

More info about this panel

Fructose intolerance (sequence analysis of ALDOB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALDOB gene.

More info about this panel

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

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

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

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

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

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

Hereditary Fructose Intolerance Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the ALDOB gene.

More info about this panel

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

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

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

Fructose intolerance Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALDOB gene.

More info about this panel

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

Single gene testing ALDOB Panel

Germany.

By CeGaT GmbH

This panel specifically test the ALDOB gene.

More info about this panel

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

Fructosemia Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the ALDOB gene.

More info about this panel

Hereditary Fructose Intolerance (ALDOB) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the ALDOB gene.

More info about this panel

Fructose intolerance Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ALDOB gene.

More info about this panel

Fructose intolerance Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ALDOB gene.

More info about this panel

ALDOB Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the ALDOB gene.

More info about this panel

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

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

Fructose intolerance Panel

Slovakia.

By MedGene

This panel specifically test the ALDOB gene.

More info about this panel

Fructose intolerance Panel

Slovakia.

By MedGene

This panel specifically test the ALDOB gene.

More info about this panel

Invitae Hereditary Fructose Intolerance Test Panel

United States.

By Invitae

This panel specifically test the ALDOB gene.

More info about this panel

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

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

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

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

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

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

ALDOB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALDOB gene.

More info about this panel

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

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

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

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

Hereditary fructose intolerance Panel

Spain.

By Bioarray

This panel specifically test the ALDOB gene.

More info about this panel

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

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

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

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

Hereditary Fructose Intolerance Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the ALDOB gene.

More info about this panel

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

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

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

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


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