GALT gene related symptoms and diseases

All the information presented here about the GALT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GALT gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Lethargy Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Impairment of galactose metabolism Very Common - Between 80% and 100% cases
Speech articulation difficulties Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GALT gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Decreased fertility in females
  • Abnormality of the ovary
  • Speech apraxia
  • Sepsis
  • Hepatic failure
  • Nausea and vomiting
  • Abnormal bleeding
  • Hypoglycemia

And 64 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GALT gene

Here you will find a list of rare diseases related to the GALT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CLASSIC GALACTOSEMIA


Alternate names

CLASSIC GALACTOSEMIA Is also known as galt deficiency, galactose-1-phosphate uridyltransferase deficiency, galactosemia type 1

Description

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

Most common symptoms of CLASSIC GALACTOSEMIA

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


More info about CLASSIC GALACTOSEMIA

SOURCES: ORPHANET

GALACTOSEMIA


Alternate names

GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency, galt deficiency, galactosemia, classic

Description

Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

Most common symptoms of GALACTOSEMIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about GALACTOSEMIA

SOURCES: ORPHANET OMIM


Potential gene panels for GALT 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

GALT Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALT gene.

More info about this panel

GALT Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALT gene.

More info about this panel

GALT Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALT gene.

More info about this panel

GALT Sequence and Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALT gene.

More info about this panel

GALT Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GALT gene.

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

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

Galactosemia, classic Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Panel

New Zealand.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital

This panel specifically test the GALT gene.

More info about this panel

Galactosemia (GALT), Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the GALT gene.

More info about this panel

Galactosemia (GALT) 9 Mutations, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the GALT gene.

More info about this panel

Galactosemia, (GALT) 9 Mutations Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the GALT gene.

More info about this panel

GALT. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Panel

Portugal.

By CGC Genetics

This panel specifically test the GALT gene.

More info about this panel

Galactosemia (deletion/duplication analysis of GALT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GALT gene.

More info about this panel

Cataracts (NGS panel for 41 genes) Panel

Portugal.

By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12

More info about this panel

Galactosemia (sequence analysis of GALT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Type I (Classic and Variant Galactosemia) via the GALT Gene, 5.5 kb Common Deletion Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GALT 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

Galactosemia Type I (Classic and Variant Galactosemia) via GALT Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GALT gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA

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

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

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

Galactosemia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GALT gene.

More info about this panel

Galactosemia - GALT Panel

Sweden.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the GALT gene.

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Galactosemia Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Panel

United States.

By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GALT gene.

More info about this panel

GALT Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the GALT 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

Galactosemia Panel

Slovakia.

By MedGene

This panel specifically test the GALT gene.

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

Galactosemia: GALT gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GALT gene.

More info about this panel

Galactosemia: GALT Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the GALT gene.

More info about this panel

Galactosemia: GALT Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the GALT 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

GALT Gene, Full Gene Sequence Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic

This panel specifically test the GALT gene.

More info about this panel

Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS

More info about this panel

Galactosemia, GALT-Related (GALT) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the GALT 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

GALT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Mutation Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Mutation Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the GALT gene.

More info about this panel

Premature Ovarian Failure Panel Panel

Finland.

By Blueprint Genetics Premature Ovarian Failure Panel that also includes the following genes: BMP15 FOXL2 STAR WT1 NOBOX CYP17A1 CYP19A1 FSHR GALT GNAS

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

Galactosemia (GALT) Panel

Iran.

By Genomic Research Center Shahid Beheshti University of Medical Sciences

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Panel

United States.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University

This panel specifically test the GALT gene.

More info about this panel

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Galactosemia (GALT) Panel

Iran.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences

This panel specifically test the GALT gene.

More info about this panel

GALACTOSEMIA TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Type 1, Sequencing GALT Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Type 1, Screening Mutations GALT Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GALT gene.

More info about this panel

Galactosemia Type 1 , Deletions-Duplications (MLPA) GALT Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GALT 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

Phosphorus Female Infertility Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Female Infertility Panel that also includes the following genes: BMP15 FOXL2 STAG3 ZP1 CAPN10 THADA NOBOX CYP11A1 CYP17A1 CYP19A1

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

Galactosemia: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the GALT 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

Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis that also includes the following genes: BMP15 FOXL2 POF1B PSMC3IP HFM1 NOBOX FIGLA CYP17A1 CYP19A1 DIAPH2

More info about this panel

Classical galactosaemia Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the GALT gene.

More info about this panel


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