MAT2A gene related symptoms and diseases

All the information presented here about the MAT2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MAT2A gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Hypovolemia Very Common - Between 80% and 100% cases
Dilatation of the cerebral artery Very Common - Between 80% and 100% cases
Subarachnoid hemorrhage Very Common - Between 80% and 100% cases
Transient ischemic attack Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MAT2A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Aortic dissection
  • Peripheral arterial stenosis
  • Left ventricular failure
  • Pneumothorax
  • Thoracic aortic aneurysm
  • Dural ectasia
  • Aortic root aneurysm
  • Abdominal aortic aneurysm

And 32 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MAT2A gene

Here you will find a list of rare diseases related to the MAT2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION


Alternate names

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Description

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

SOURCES: ORPHANET


Potential gene panels for MAT2A gene

Familial Aneurysm Panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Familial Aneurysm Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1

More info about this panel

MAT2A Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the MAT2A gene.

More info about this panel

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection that also includes the following genes: SKI SMS TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS

More info about this panel

Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 MFAP5 FBN1 FOXE3 LOX

More info about this panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS

More info about this panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS

More info about this panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS

More info about this panel

Connective tissue disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Connective tissue disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel

Marfan syndrome, EDS and other connective tissue disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Marfan syndrome, EDS and other connective tissue disorders - different panels that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS GATA5

More info about this panel

Vascular and connective tissue diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1

More info about this panel

Familial thoracic aortic aneurysm panel Panel

Germany.

By Centogene AG - the Rare Disease Company Familial thoracic aortic aneurysm panel that also includes the following genes: BGN ACTA2 CBS MFAP5 LOX MAT2A MYH11 MYLK

More info about this panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel

MAT2A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAT2A gene.

More info about this panel

Marfan Syndrome Panel Panel

Finland.

By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS

More info about this panel

Complement System Disorder Panel Panel

Finland.

By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S

More info about this panel

Aorta Panel Panel

Finland.

By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS

More info about this panel

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 ADAMTSL4 COL3A1 COL5A1 COL5A2

More info about this panel

MARFAN SYNDROME AND RELATED DISEASES: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MARFAN SYNDROME AND RELATED DISEASES: NGS PANEL that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 ADAMTSL4 COL3A1 COL5A1 COL5A2

More info about this panel

Heritable Thoracic Aortic Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Heritable Thoracic Aortic Disease: gene sequencing panel that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 MFAP5 FBN1 SMAD3 MAT2A

More info about this panel


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