TARDBP gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to TARDBP gene

Symptoms // Phenotype % Cases
Amyotrophic lateral sclerosis Very Common - Between 80% and 100% cases
Neuronal loss in central nervous system Very Common - Between 80% and 100% cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Abnormal lower motor neuron morphology Very Common - Between 80% and 100% cases
Dysphagia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Frontotemporal dementia
  • Emotional lability
  • Dementia
  • Cerebral atrophy
  • Babinski sign
  • Fasciculations
  • Muscle weakness
  • Perseveration

And 95 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TARDBP gene

Here you will find a list of rare diseases related to the TARDBP. 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

AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS10

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS10

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria
  • Skeletal muscle atrophy


More info about AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS10

SOURCES: OMIM MESH

FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

Alternate names

FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis, frontotemporal dementia with amyotrophic lateral sclerosis, ftd-mnd, ftdmnd, ftd-als, amyotrophic lateral sclerosis and/or frontotemporal dementia, alsftd, frontotemporal dementia and/or motor neuron

Description

Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.

Most common symptoms of FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

  • Ataxia
  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • Dysarthria


More info about FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

SOURCES: OMIM ORPHANET


Potential gene panels for TARDBP gene

Amyotrophic Lateral Sclerosis Advanced Evaluation Panel

United States.

By Athena Diagnostics Inc Amyotrophic Lateral Sclerosis Advanced Evaluation that also includes the following genes: SOD1 SQSTM1 TARDBP UBQLN2 VAPB VCP FIG4 OPTN CHMP2B DCTN1

More info about this panel
United States.

Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation that also includes the following genes: SQSTM1 TARDBP UBQLN2 VAPB VCP FIG4 OPTN CHMP2B DCTN1 FUS

More info about this panel
United States.

Amyotrophic Lateral Sclerosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Amyotrophic Lateral Sclerosis that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel
United States.

Dementia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dementia that also includes the following genes: SORL1 TARDBP VCP FIG4 OPTN TREM2 CSF1R CHMP2B DCTN1 C9orf72

More info about this panel
United States.

Familial Amyotrophic Lateral Sclerosis 10 Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the TARDBP gene.

More info about this panel
United Kingdom.

TAR DNA binding protein TARDBP (TDP-43) gene sequencing test Panel

Cyprus.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics

This panel specifically test the TARDBP gene.

More info about this panel
Cyprus.

TDP43. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TARDBP gene.

More info about this panel
Spain.

TARDBP. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TARDBP gene.

More info about this panel
Spain.

SOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica SOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SOD1 TARDBP C9orf72 FUS ANG

More info about this panel
Spain.

TARDBP. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TARDBP gene.

More info about this panel
Spain.

Amyotrophic lateral sclerosis 10 (sequence analysis of TARDBP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TARDBP gene.

More info about this panel
Portugal.

Frontotemporal dementia (NGS panel for 13 genes) Panel

Portugal.

By CGC Genetics Frontotemporal dementia (NGS panel for 13 genes) that also includes the following genes: TARDBP TUBA4A UBQLN2 VCP CHCHD10 CSF1R CHMP2B FUS GRN HNRNPA1

More info about this panel
Portugal.

Hereditary dementias (NGS panel for 28 genes) Panel

Portugal.

By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10

More info about this panel
Portugal.

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP OPTN CDH13 TREM2

More info about this panel
United States.

Classic Amyotrophic Lateral Sclerosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Classic Amyotrophic Lateral Sclerosis Sequencing Panel with CNV Detection that also includes the following genes: SOD1 TARDBP C9orf72 FUS

More info about this panel
United States.

Amyotrophic Lateral Sclerosis/Motor Neuron Disease via TARDBP Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TARDBP gene.

More info about this panel
United States.

Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dementia Sequencing Panel with CNV Detection that also includes the following genes: SQSTM1 TARDBP TYROBP UBQLN2 TREM2 CHMP2B C9orf72 FUS GRN APP

More info about this panel
United States.

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

Amyotrophic lateral sclerosis Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Amyotrophic lateral sclerosis that also includes the following genes: SOD1 TARDBP VAPB FUS ALS2

More info about this panel
Germany.

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
Germany.

TARDBP-Related Amyotrophic Lateral Sclerosis Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the TARDBP gene.

More info about this panel
Germany.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

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
Germany.

ALS Sequencing Panel Panel

United States.

By FirmaLab ALS Sequencing Panel that also includes the following genes: SOD1 TARDBP VAPB ANG

More info about this panel
United States.

TARDP Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the TARDBP gene.

More info about this panel
Netherlands.

FTD - ALS panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht FTD - ALS panel that also includes the following genes: SMPD1 SOD1 TARDBP VAPB VCP NPC2 FIG4 CHMP2B FUS ALS2

More info about this panel
Netherlands.

Amyotrophic lateral sclerosis type 10 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TARDBP gene.

More info about this panel
Germany.

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
Germany.

ALS panel Panel

Germany.

By Centogene AG - the Rare Disease Company ALS panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel
Germany.

Dementia, frontotemporal Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TARDBP gene.

More info about this panel
Germany.

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
United States.

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
United States.

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel
Germany.

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
Germany.

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
Germany.

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
Germany.

TARDBP - Gene sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the TARDBP gene.

More info about this panel
Netherlands.

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
Poland.

Frontotemporal Dementia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Frontotemporal Dementia that also includes the following genes: TARDBP CHMP2B GRN MAPT

More info about this panel
Estonia.

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
Estonia.

Test for TARDBP-Related Frontotemporal Dementia Panel

Spain.

By Secugen SL

This panel specifically test the TARDBP gene.

More info about this panel
Spain.

Amyotrophic lateral sclerosis 10 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TARDBP gene.

More info about this panel
Austria.

Frontotemporal lobar degeneration Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TARDBP gene.

More info about this panel
Austria.

Amyotrophic lateral sclerosis 10 Panel

Slovakia.

By MedGene

This panel specifically test the TARDBP gene.

More info about this panel
Slovakia.

Frontotemporal lobar degeneration Panel

Slovakia.

By MedGene

This panel specifically test the TARDBP gene.

More info about this panel
Slovakia.

Invitae Amyotrophic Lateral Sclerosis Panel Panel

United States.

By Invitae Invitae Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB CHCHD10 OPTN DCTN1

More info about this panel
United States.

Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel Panel

United States.

By Invitae Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SNCA SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB VCP CHCHD10

More info about this panel
United States.

Invitae Frontotemporal Dementia Panel Panel

United States.

By Invitae Invitae Frontotemporal Dementia Panel that also includes the following genes: TARDBP TBK1 UBQLN2 VCP CHCHD10 DCTN1 FUS GRN MAPT

More info about this panel
United States.

Amyotrophic lateral sclerosis :TARDBP (TDP43) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TARDBP gene.

More info about this panel
Spain.

Frontotemporal dementia:TARDBP (TDP43) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TARDBP gene.

More info about this panel
Spain.

AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. that also includes the following genes: SOD1 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2 SETX

More info about this panel
Spain.

Frontotemporal dementia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Frontotemporal dementia that also includes the following genes: TARDBP UBQLN2 VCP CHMP2B FUS GRN MAPT SIGMAR1

More info about this panel
Spain.

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel
Netherlands.

Amyotrophic Lateral Sclerosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN

More info about this panel
United States.

TARDBP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TARDBP gene.

More info about this panel
United States.

Dementia Panel Panel

Finland.

By Blueprint Genetics Dementia Panel that also includes the following genes: SNCA SORL1 TARDBP TUBA4A UBE3A UBQLN2 VCP TREM2 RNF216 CSF1R

More info about this panel
Finland.

Amyotrophic Lateral Sclerosis Panel Panel

Finland.

By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP

More info about this panel
Finland.

Amyotrophic lateral sclerosis Panel

Spain.

By Bioarray

This panel specifically test the TARDBP gene.

More info about this panel
Spain.

Amyotrophic Lateral Sclerosis (TARDBP gene) Panel

Belgium.

By Diagnostic Service Facility University of Antwerp

This panel specifically test the TARDBP gene.

More info about this panel
Belgium.

AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) that also includes the following genes: SOD1 SQSTM1 TARDBP VAPB VCP CHCHD10 FIG4 CHMP2B DCTN1 C9orf72

More info about this panel
Spain.

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
Spain.

DEMENTIA & ALZHEIMER: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DEMENTIA & ALZHEIMER: NGS PANEL that also includes the following genes: SORL1 TARDBP VCP TREM2 CSF1R CHMP2B FUS GRN APOE ITM2B

More info about this panel
Spain.

FRONTOTEMPORAL DEMENTIA Panel

Spain.

By Laboratorio de Genetica Clinica SL FRONTOTEMPORAL DEMENTIA that also includes the following genes: TARDBP CHMP2B C9orf72 GRN MAPT PSEN1

More info about this panel
Spain.

Amyotrophic Lateral Sclerosis , Sequencing TARDBP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TARDBP gene.

More info about this panel
Spain.

Frontotemporal Dementia , Sequencing TARDBP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TARDBP gene.

More info about this panel
Spain.

Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SOD1 SPG11 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2

More info about this panel
Spain.

Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: TARDBP UBQLN2 VCP CHMP2B FUS GRN MAPT SIGMAR1

More info about this panel
Spain.

TARDBP-Related Amyotrophic Lateral Sclerosis: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the TARDBP gene.

More info about this panel
Canada.

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