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.

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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

SOURCES: ORPHANET OMIM

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


Potential gene panels for GALE 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

GALE Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALE gene.

More info about this panel

GALE Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALE gene.

More info about this panel

GALE Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALE gene.

More info about this panel

GALE Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALE gene.

More info about this panel

GALE Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALE gene.

More info about this panel

GALE. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GALE gene.

More info about this panel

Galactosemia type III (sequence analysis of GALE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GALE gene.

More info about this panel

Epimerase Deficiency Galactosemia via GALE Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GALE gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

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 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

Galactose epimerase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GALE gene.

More info about this panel

Galactosemia, GALE sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the GALE gene.

More info about this panel

GALE Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the GALE gene.

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

Invitae Galactosemia Panel Panel

United States.

By Invitae Invitae Galactosemia Panel that also includes the following genes: GALE GALK1 GALT

More info about this panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

United States.

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 panel

Epimerase Deficiency Galactosemia: GALE gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GALE gene.

More info about this panel

Galactosemia (Epimerase): GALE Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the GALE gene.

More info about this panel

Galactosemia (Epimerase): GALE Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the GALE gene.

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

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 panel

GALE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GALE 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

Cataract Panel Panel

Finland.

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 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

Galactose epimerase deficiency Panel

Spain.

By Bioarray

This panel specifically test the GALE gene.

More info about this panel

GALACTOSEMIA TYPE 3 (GALACTOSE EPIMERASE DEFICIENCY) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GALE gene.

More info about this panel

Galactosemia Type 3, Sequencing GALE Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GALE gene.

More info about this panel

Galactosemia: gene sequencing panel (RAPID testing) Panel

Canada.

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 panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

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 panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

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 panel

Galactose epimerase deficiency: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the GALE gene.

More info about this panel

UDP-galactose-4-epimerase deficiency Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the GALE gene.

More info about this panel


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