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.
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
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
Search interest in MATR3
Potential gene panels for MATR3 gene
Distal Myopathy Advanced Sequencing Evaluation Panel
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 panelNeuromuscular Disorders Panel Panel
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 panelAmyotrophic lateral sclerosis 21 (sequence analysis of MATR3 gene) Panel
By CGC Genetics
This panel specifically test the MATR3 gene.
More info about this panelDistal Hereditary Myopathy Sequencing Panel Panel
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 panelDistal Myopathy 2 via MATR3 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MATR3 gene.
More info about this panelComprehensive Neuromuscular Sequencing Panel Panel
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 panelAmyotrophic lateral sclerosis and related disorders Comprehensive panel Panel
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 panelAmyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel Panel
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 panelAmyotrophic lateral sclerosis and related disorders NGS panel Panel
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 panelDistal Myopathy NGS panel Panel
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 panelDistal Myopathy Comprehensive panel Panel
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 panelDistal Myopathy Deletion / Duplication panel Panel
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 panelNeuropathy Panel
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 panelAmyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel
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 panelMuscle Disease with Distal Myopathy Panel
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 panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
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 panelMuscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
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 panelDistal Myopathy 2 Panel
By FirmaLab
This panel specifically test the MATR3 gene.
More info about this panelDistal Myopathy Panel Panel
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 panelMyopathy, distal type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MATR3 gene.
More info about this panelAllNeuro panel Panel
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 panelAmyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion Panel
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 panelAmyotrophic Lateral Sclerosis NGS Panel Panel
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 panelAmyotrophic Lateral Sclerosis (ALS) Panel Panel
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 panelCongenital and Distal Myopathies Panel Panel
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 panelFrontotemporal Dementia (FTD) Panel Panel
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 panelDementia all Panel Panel
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 panelAmyotrophic lateral sclerosis Panel
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 panelAmyotrophic Lateral Sclerosis Panel
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 panelCongenital Myopathy and Distal Myopathy NGS panel Panel
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 panelInvitae Comprehensive Neuromuscular Disorders Panel Panel
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 panelInvitae Distal Myopathy Panel Panel
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 panelInvitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
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 panelInvitae Comprehensive Myopathy Panel Panel
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 panelDistal Hereditary Myopathy NGS Panel Panel
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 panelMATR3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MATR3 gene.
More info about this panelAMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL Panel
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
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