GALE gene related symptoms and diseases
All the information presented here about the GALE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GALE gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Vomiting | Uncommon - Between 30% and 50% cases |
Galactosuria | Uncommon - Between 30% and 50% cases |
Hypergalactosemia | Uncommon - Between 30% and 50% cases |
Delayed gross motor development | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GALE gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Aminoaciduria
- Aciduria
- Nausea and vomiting
- Jaundice
- Weight loss
- Splenomegaly
- Intellectual disability, severe
- Global developmental delay
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GALE gene
Here you will find a list of rare diseases related to the GALE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GALACTOSE EPIMERASE DEFICIENCY
Alternate names
GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency, gale deficiency, galactosemia iii
Description
Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).
Most common symptoms of GALACTOSE EPIMERASE DEFICIENCY
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Growth delay
More info about GALACTOSE EPIMERASE DEFICIENCY
ERYTHROCYTE GALACTOSE EPIMERASE DEFICIENCY
Alternate names
ERYTHROCYTE GALACTOSE EPIMERASE DEFICIENCY Is also known as erythrocyte gale-d, erythrocyte uridine diphosphate galactose-4-epimerase deficiency, erythrocyte udp-galactose-4-epimerase deficiency, erythrocyte gale deficiency, erythrocyte epimerase deficiency galactosemia
More info about ERYTHROCYTE GALACTOSE EPIMERASE DEFICIENCY
SOURCES: ORPHANET
GENERALIZED GALACTOSE EPIMERASE DEFICIENCY
Alternate names
GENERALIZED GALACTOSE EPIMERASE DEFICIENCY Is also known as generalized epimerase deficiency galactosemia, generalized gale-d, generalized udp-galactose-4-epimerase deficiency, generalized uridine diphosphate galactose-4-epimerase deficiency, generalized gale deficiency
More info about GENERALIZED GALACTOSE EPIMERASE DEFICIENCY
SOURCES: ORPHANET
Search interest in GALE
Potential gene panels for GALE gene
MitoMet®Plus aCGH Analysis Panel
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 panelGALE Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the GALE gene.
More info about this panelGALE Familial Mutation/Variant Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the GALE gene.
More info about this panelGALE Prenatal Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the GALE gene.
More info about this panelGALE Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the GALE gene.
More info about this panelGALE Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the GALE gene.
More info about this panelGALE. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GALE gene.
More info about this panelGalactosemia type III (sequence analysis of GALE gene) Panel
By CGC Genetics
This panel specifically test the GALE gene.
More info about this panelEpimerase Deficiency Galactosemia via GALE Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GALE gene.
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelGalactose epimerase deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GALE gene.
More info about this panelGalactosemia, GALE sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the GALE gene.
More info about this panelGALE Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the GALE gene.
More info about this panelqCarrier Plus Panel
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 panelInvitae Galactosemia Panel Panel
By Invitae Invitae Galactosemia Panel that also includes the following genes: GALE GALK1 GALT
More info about this panelInvitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panelEpimerase Deficiency Galactosemia: GALE gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GALE gene.
More info about this panelGalactosemia (Epimerase): GALE Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GALE gene.
More info about this panelGalactosemia (Epimerase): GALE Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GALE gene.
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelGALE Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GALE gene.
More info about this panelComprehensive Metabolism Panel Panel
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 panelCataract Panel Panel
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panelCongenital Mono- and Disaccharide Disorders Panel Panel
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 panelMetabolic Liver Failure Panel Panel
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 panelGalactose epimerase deficiency Panel
By Bioarray
This panel specifically test the GALE gene.
More info about this panelGALACTOSEMIA TYPE 3 (GALACTOSE EPIMERASE DEFICIENCY) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the GALE gene.
More info about this panelGalactosemia Type 3, Sequencing GALE Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GALE gene.
More info about this panelGalactosemia: gene sequencing panel (RAPID testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Galactosemia: gene sequencing panel (RAPID testing) that also includes the following genes: GALE GALK1 GALT
More info about this panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panelCEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelGalactose epimerase deficiency: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GALE gene.
More info about this panelUDP-galactose-4-epimerase deficiency Panel
By Genomic Laboratory Semmelweis University
This panel specifically test the GALE gene.
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