MAT1A gene related symptoms and diseases
All the information presented here about the MAT1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MAT1A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Peripheral demyelination | Very Common - Between 80% and 100% cases |
| Hypermethioninemia | Very Common - Between 80% and 100% cases |
| Hypertyrosinemia | Very Common - Between 80% and 100% cases |
| Homocystinuria | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MAT1A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- CNS demyelination
- Gout
- Dysdiadochokinesis
- Aortic regurgitation
- Anorexia
- Hepatitis
- Abnormality of eye movement
- Growth delay
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MAT1A gene
Here you will find a list of rare diseases related to the MAT1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Alternate names
BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency, mat i/iii deficiency, hypermethioninemia, isolated persistent, methionine adenosyltransferase deficiency
Description
Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.
Most common symptoms of BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
- Intellectual disability
- Growth delay
- Nystagmus
- Cognitive impairment
- Hyperreflexia
More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Search interest in MAT1A
Potential gene panels for MAT1A gene
Dystonia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Movement Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel United States.
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS MCEE MMAA MMAB LMBRD1
More info about this panel United States.
MAT1A Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the MAT1A gene.
More info about this panel United States.
MAT1A. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MAT1A gene.
More info about this panel Spain.
Methionine adenosyltransferase deficiency, AR (sequence analysis of MAT1A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MAT1A gene.
More info about this panel Portugal.
Hepatic methionine adenosyltransferase deficiency Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the MAT1A gene.
More info about this panel Germany.
Hypermethioninemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypermethioninemia Sequencing Panel with CNV Detection that also includes the following genes: AHCY GNMT MAT1A
More info about this panel United States.
Methionine Adenosyltransferase I/III Deficiency via MAT1A Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MAT1A gene.
More info about this panel United States.
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
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.
Methionine adenosyltransferase deficiency (MAT1A) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the MAT1A gene.
More info about this panel Netherlands.
Methionine adenosyltransferase deficiency, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MAT1A gene.
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.
MAT1A Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the MAT1A gene.
More info about this panel Austria.
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.
Invitae Elevated Methionine Panel Panel
United States.
By Invitae Invitae Elevated Methionine Panel that also includes the following genes: CBS AHCY GNMT MAT1A
More info about this panel United States.
Methionine adenosyltrasnferase, deficiency: MAT1A gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MAT1A gene.
More info about this panel Spain.
Dystonia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Cobalamin Homocysteine Methionine Deficiency NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cobalamin Homocysteine Methionine Deficiency NGS Panel that also includes the following genes: TCN2 CBS CD320 MCEE MMAA MMAB LMBRD1 MMACHC CTH MMADHC
More info about this panel United States.
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 United States.
MAT1A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MAT1A gene.
More info about this panel United States.
Brain demyelination due to methionine adenosyltransferase deficiency Panel
Spain.
By Bioarray
This panel specifically test the MAT1A gene.
More info about this panel Spain.
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.
Hypermethioninemia: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hypermethioninemia: gene sequencing panel (RAPID testing) that also includes the following genes: AHCY GNMT MAT1A
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.
Autosomal recessive Methionine adenosyltransferase deficiency: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MAT1A gene.
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.
Autosomal dominant persistent hypermethioninemia due to methionine adenosyltransferase I/III deficiency: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MAT1A gene.
More info about this panel Canada.
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