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
- Speech apraxia
- Abnormality of the ovary
- Abnormal bleeding
- Hepatic failure
- Nausea and vomiting
- Sepsis
- Hypoglycemia
And 64 more phenotypes, you can get all of them using our tools for rare diseases.
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
Search interest in GALT
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 United States.
GALT Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GALT gene.
More info about this panel United States.
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 United States.
GALT Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GALT gene.
More info about this panel United States.
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 United States.
GALT Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GALT gene.
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.
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 United States.
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 United States.
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 United States.
Galactosemia Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the GALT gene.
More info about this panel United States.
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 New Zealand.
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 United States.
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 United States.
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 United States.
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 Spain.
Galactosemia Panel
Portugal.
By CGC Genetics
This panel specifically test the GALT gene.
More info about this panel Portugal.
Galactosemia (deletion/duplication analysis of GALT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GALT gene.
More info about this panel Portugal.
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 Portugal.
Galactosemia (sequence analysis of GALT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GALT gene.
More info about this panel Portugal.
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 India.
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 Netherlands.
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 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.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 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.
Galactosemia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GALT gene.
More info about this panel Germany.
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 Sweden.
Galactosemia Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the GALT gene.
More info about this panel Poland.
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 Estonia.
Galactosemia Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the GALT gene.
More info about this panel Germany.
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 United States.
Galactosemia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GALT gene.
More info about this panel Austria.
GALT Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the GALT 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.
Galactosemia Panel
Slovakia.
By MedGene
This panel specifically test the GALT gene.
More info about this panel Slovakia.
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 United States.
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 United States.
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 Spain.
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 United States.
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 United States.
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.
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 United States.
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 United States.
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 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.
GALT Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GALT gene.
More info about this panel United States.
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 United States.
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 United States.
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 Finland.
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.
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 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.
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 Iran.
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 United States.
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 United States.
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 Iran.
GALACTOSEMIA TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GALT gene.
More info about this panel Spain.
Galactosemia Type 1, Sequencing GALT Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GALT gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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.
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 United States.
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 Canada.
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 Canada.
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 Canada.
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 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.
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 Canada.
Classical galactosaemia Panel
Hungary.
By Genomic Laboratory Semmelweis University
This panel specifically test the GALT gene.
More info about this panel Hungary.
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