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.

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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

SOURCES: OMIM ORPHANET


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

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

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

MAT1A Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the MAT1A gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

MAT1A Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the MAT1A gene.

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

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

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

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

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

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

MAT1A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAT1A gene.

More info about this panel

Brain demyelination due to methionine adenosyltransferase deficiency Panel

Spain.

By Bioarray

This panel specifically test the MAT1A 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

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

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

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

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

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


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