MATR3 gene related symptoms and diseases

All the information presented here about the MATR3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MATR3 gene

Symptoms // Phenotype % Cases
Respiratory failure Very Common - Between 80% and 100% cases
Abnormal lower motor neuron morphology Very Common - Between 80% and 100% cases
Fasciculations Very Common - Between 80% and 100% cases
Bulbar palsy Very Common - Between 80% and 100% cases
Dementia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MATR3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Muscle weakness
  • Dysphagia
  • Amyotrophic lateral sclerosis
  • Skeletal muscle atrophy
  • Hyperreflexia
  • Spasticity
  • Not very common - Between 30% and 50% cases

  • EMG abnormality
  • Respiratory insufficiency due to muscle weakness

And 74 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MATR3 gene

Here you will find a list of rare diseases related to the MATR3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMYOTROPHIC LATERAL SCLEROSIS


Alternate names

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial

Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


More info about AMYOTROPHIC LATERAL SCLEROSIS

SOURCES: OMIM MESH ORPHANET

VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY


Alternate names

VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY Is also known as mpd2, formerly, myopathy, distal, 2, formerly, vocal cord and pharyngeal dysfunction with distal myopathy, formerly, matr3-related distal myopathy, distal myopathy with vocal cord weakness, vcpdm, formerly, vcpdm

Description

Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.

Most common symptoms of VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


More info about VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY

SOURCES: OMIM ORPHANET


Potential gene panels for MATR3 gene

Distal Myopathy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Distal Myopathy Advanced Sequencing Evaluation that also includes the following genes: TIA1 MYOT TTN VCP CAV3 LDB3 KLHL9 GNE CRYAB ANO5

More info about this panel

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Amyotrophic lateral sclerosis 21 (sequence analysis of MATR3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MATR3 gene.

More info about this panel

Distal Hereditary Myopathy Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Distal Hereditary Myopathy Sequencing Panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 KLHL9

More info about this panel

Distal Myopathy 2 via MATR3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MATR3 gene.

More info about this panel

Comprehensive Neuromuscular Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1

More info about this panel

Amyotrophic lateral sclerosis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Comprehensive panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel

Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel

Amyotrophic lateral sclerosis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders NGS panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel

Distal Myopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Distal Myopathy NGS panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE

More info about this panel

Distal Myopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Distal Myopathy Comprehensive panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE

More info about this panel

Distal Myopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Distal Myopathy Deletion / Duplication panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE

More info about this panel

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Amyotrophic Lateral Sclerosis (ALS) and Phenocopies that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP CHCHD10 BSCL2 SLC52A3

More info about this panel

Muscle Disease with Distal Myopathy Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Distal Myopathy that also includes the following genes: TCAP TIA1 MYOT TTN VCP CCDC78 CAPN3 CAV3 LDB3 BICD2

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1

More info about this panel

Distal Myopathy 2 Panel

United States.

By FirmaLab

This panel specifically test the MATR3 gene.

More info about this panel

Distal Myopathy Panel Panel

United States.

By FirmaLab Distal Myopathy Panel that also includes the following genes: MYOT TTN CAV3 LDB3 GNE ANO5 DNM2 DYSF MATR3 MYH7

More info about this panel

Myopathy, distal type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MATR3 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN

More info about this panel

Amyotrophic Lateral Sclerosis NGS Panel Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN

More info about this panel

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Germany.

By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2

More info about this panel

Congenital and Distal Myopathies Panel Panel

Germany.

By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3

More info about this panel

Frontotemporal Dementia (FTD) Panel Panel

Germany.

By CeGaT GmbH Frontotemporal Dementia (FTD) Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VCP CHCHD10 OPTN TREM2

More info about this panel

Dementia all Panel Panel

Germany.

By CeGaT GmbH Dementia all Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TBP TUBA4A UBQLN2 VCP VPS35 MARK4

More info about this panel

Amyotrophic lateral sclerosis Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Amyotrophic lateral sclerosis that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN4 TUBA4A VAPB CHCHD10 FIG4 OPTN

More info about this panel

Amyotrophic Lateral Sclerosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Amyotrophic Lateral Sclerosis that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel

Congenital Myopathy and Distal Myopathy NGS panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1

More info about this panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

United States.

By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1

More info about this panel

Invitae Distal Myopathy Panel Panel

United States.

By Invitae Invitae Distal Myopathy Panel that also includes the following genes: SQSTM1 TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE CRYAB

More info about this panel

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

United States.

By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1

More info about this panel

Invitae Comprehensive Myopathy Panel Panel

United States.

By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT

More info about this panel

Distal Hereditary Myopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Distal Hereditary Myopathy NGS Panel that also includes the following genes: TCAP TTN VCP CAV3 LDB3 GNE CRYAB ANO5 DES DYSF

More info about this panel

MATR3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MATR3 gene.

More info about this panel

AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL that also includes the following genes: ATXN2 SOD1 SPG11 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP CHCHD10

More info about this panel


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