MCID: TRD001
MIFTS: 17

Tardbp-Related Amyotrophic Lateral Sclerosis

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tardbp-Related Amyotrophic Lateral Sclerosis

MalaCards integrated aliases for Tardbp-Related Amyotrophic Lateral Sclerosis:

Name: Tardbp-Related Amyotrophic Lateral Sclerosis 25 6

Characteristics:

GeneReviews:

25
Penetrance Like pathogenic variants in other als-related genes (e.g., sod1), penetrance is clearly incomplete. this is evident from the number of individuals with apparently simplex als who have a tardbp pathogenic variant, which may have been inherited from an ostensibly asymptomatic (or undiagnosed) parent. however, accurate estimates are difficult to achieve for the following reasons:...

Classifications:



Summaries for Tardbp-Related Amyotrophic Lateral Sclerosis

MalaCards based summary : Tardbp-Related Amyotrophic Lateral Sclerosis is related to amyotrophic lateral sclerosis 1 and lateral sclerosis. An important gene associated with Tardbp-Related Amyotrophic Lateral Sclerosis is TARDBP (TAR DNA Binding Protein).

GeneReviews: NBK5942

Related Diseases for Tardbp-Related Amyotrophic Lateral Sclerosis

Symptoms & Phenotypes for Tardbp-Related Amyotrophic Lateral Sclerosis

Drugs & Therapeutics for Tardbp-Related Amyotrophic Lateral Sclerosis

Search Clinical Trials , NIH Clinical Center for Tardbp-Related Amyotrophic Lateral Sclerosis

Genetic Tests for Tardbp-Related Amyotrophic Lateral Sclerosis

Anatomical Context for Tardbp-Related Amyotrophic Lateral Sclerosis

Publications for Tardbp-Related Amyotrophic Lateral Sclerosis

Articles related to Tardbp-Related Amyotrophic Lateral Sclerosis:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. 6 25
24300238 2014
2
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. 6 25
19350673 2009
3
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. 6 25
19224587 2009
4
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. 6 25
18779421 2008
5
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. 25 6
18372902 2008
6
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. 6 25
18396105 2008
7
TDP-43 A315T mutation in familial motor neuron disease. 25 6
18288693 2008
8
TDP-43 mutation in familial amyotrophic lateral sclerosis. 6 25
18438952 2008
9
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. 6 25
18309045 2008
10
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. 6
21220647 2011
11
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. 6
20697052 2010
12
TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. 6
19618195 2009
13
Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis. 6
19695877 2009
14
Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations. 25
25408367 2015
15
TARDBP mutations in Parkinson's disease. 25
23231971 2013
16
How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other? 25
23041957 2012
17
Evidence for an oligogenic basis of amyotrophic lateral sclerosis. 25
22645277 2012
18
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. 25
22539580 2012
19
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. 25
21418058 2012
20
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD. 25
21803454 2011
21
TDP-43: the relationship between protein aggregation and neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. 25
21777387 2011
22
Implications of the prion-related Q/N domains in TDP-43 and FUS. 25
21135580 2011
23
TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course. 25
20645878 2010
24
Prion-like disorders: blurring the divide between transmissibility and infectivity. 25
20356930 2010
25
Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS. 25
20558945 2010
26
TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation. 25
19864663 2009
27
Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. 25
19822872 2009
28
Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. 25
19822873 2009
29
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. 25
18068872 2009
30
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. 25
19236453 2009
31
TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations. 25
18986339 2009
32
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 25
19225410 2009
33
TDP-43 accumulation is common in myopathies with rimmed vacuoles. 25
19066918 2009
34
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. 25
18931000 2009
35
Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies. 25
19139911 2009
36
Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis. 25
18989684 2009
37
TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 25
19001167 2008
38
TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. 25
18796596 2008
39
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. 25
18802454 2008
40
Whole brain-based computerized neuroimaging in ALS and other motor neuron disorders. 25
18608107 2008
41
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. 25
18545701 2008
42
A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro. 25
18505686 2008
43
Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. 25
18520774 2008
44
TAR-DNA binding protein 43 in Pick disease. 25
18091558 2008
45
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. 25
17981595 2008
46
Efficacy of minocycline in patients with amyotrophic lateral sclerosis: a phase III randomised trial. 25
17980667 2007
47
Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. 25
17219193 2007
48
Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). 25
17253460 2007
49
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 25
17023659 2006
50
TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. 25
16157593 2005

Variations for Tardbp-Related Amyotrophic Lateral Sclerosis

ClinVar genetic disease variations for Tardbp-Related Amyotrophic Lateral Sclerosis:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TARDBP NM_007375.3(TARDBP):c.991C>A (p.Gln331Lys) SNV Pathogenic 5229 rs80356727 1:11082457-11082457 1:11022400-11022400
2 TARDBP NM_007375.3(TARDBP):c.881G>C (p.Gly294Ala) SNV Pathogenic 5230 rs80356721 1:11082347-11082347 1:11022290-11022290
3 TARDBP NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala) SNV Pathogenic 5231 rs121908395 1:11082335-11082335 1:11022278-11022278
4 TARDBP NM_007375.3(TARDBP):c.1028A>G (p.Gln343Arg) SNV Pathogenic 5235 rs80356731 1:11082494-11082494 1:11022437-11022437
5 TARDBP NM_007375.3(TARDBP):c.*83T>C SNV Pathogenic 21465 rs80356744 1:11082794-11082794 1:11022737-11022737
6 TARDBP NM_007375.3(TARDBP):c.881G>T (p.Gly294Val) SNV Pathogenic 21484 rs80356721 1:11082347-11082347 1:11022290-11022290
7 TARDBP NM_007375.3(TARDBP):c.1035C>A (p.Asn345Lys) SNV Pathogenic 21467 rs80356732 1:11082501-11082501 1:11022444-11022444
8 TARDBP NM_007375.3(TARDBP):c.1009A>G (p.Met337Val) SNV Pathogenic 5228 rs80356730 1:11082475-11082475 1:11022418-11022418
9 TARDBP NM_007375.3(TARDBP):c.943G>A (p.Ala315Thr) SNV Pathogenic 5236 rs80356726 1:11082409-11082409 1:11022352-11022352
10 TARDBP NM_007375.3(TARDBP):c.1055A>G (p.Asn352Ser) SNV Pathogenic 21468 rs80356734 1:11082521-11082521 1:11022464-11022464
11 TARDBP NM_007375.3(TARDBP):c.800A>G (p.Asn267Ser) SNV Pathogenic 21482 rs80356718 1:11082266-11082266 1:11022209-11022209
12 TARDBP NM_007375.3(TARDBP):c.883G>A (p.Gly295Ser) SNV Pathogenic 21485 rs80356723 1:11082349-11082349 1:11022292-11022292
13 TARDBP NM_007375.3(TARDBP):c.1150G>C (p.Gly384Arg) SNV Pathogenic 190399 rs797044594 1:11082616-11082616 1:11022559-11022559
14 TARDBP NM_007375.3(TARDBP):c.1153T>G (p.Trp385Gly) SNV Pathogenic 190400 rs797044595 1:11082619-11082619 1:11022562-11022562
15 TARDBP NM_007375.3(TARDBP):c.1009A>G (p.Met337Val) SNV Pathogenic 5228 rs80356730 1:11082475-11082475 1:11022418-11022418
16 TARDBP NM_007375.3(TARDBP):c.892G>A (p.Gly298Ser) SNV Pathogenic/Likely pathogenic 5232 rs4884357 1:11082358-11082358 1:11022301-11022301
17 TARDBP NM_007375.3(TARDBP):c.1147A>G (p.Ile383Val) SNV Pathogenic/Likely pathogenic 21476 rs80356740 1:11082613-11082613 1:11022556-11022556
18 TARDBP NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) SNV Likely pathogenic 873205 1:11082359-11082359 1:11022302-11022302
19 TARDBP NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu) SNV Likely pathogenic 873228 1:11082526-11082526 1:11022469-11022469
20 TARDBP NM_007375.3(TARDBP):c.1042G>T (p.Gly348Cys) SNV Likely pathogenic 5234 rs80356733 1:11082508-11082508 1:11022451-11022451
21 TARDBP NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) SNV Likely pathogenic 21483 rs80356719 1:11082325-11082325 1:11022268-11022268
22 TARDBP NM_007375.3(TARDBP):c.1144G>A (p.Ala382Thr) SNV Likely pathogenic 21474 rs367543041 1:11082610-11082610 1:11022553-11022553
23 TARDBP NM_007375.3(TARDBP):c.506A>G (p.Asp169Gly) SNV Conflicting interpretations of pathogenicity 5233 rs80356717 1:11078893-11078893 1:11018836-11018836
24 TARDBP NM_007375.3(TARDBP):c.1121dup (p.Tyr374Ter) Duplication Uncertain significance 21471 rs80356737 1:11082586-11082587 1:11022529-11022530
25 TARDBP NM_007375.3(TARDBP):c.931A>G (p.Met311Val) SNV Uncertain significance 21487 rs80356725 1:11082397-11082397 1:11022340-11022340
26 TARDBP NM_007375.4(TARDBP):c.*2749T>C SNV Uncertain significance 874801 1:11085460-11085460 1:11025403-11025403
27 TARDBP NM_007375.4(TARDBP):c.*142T>C SNV Uncertain significance 873796 1:11082853-11082853 1:11022796-11022796
28 MASP2 NM_007375.4(TARDBP):c.*2123T>C SNV Uncertain significance 873851 1:11084834-11084834 1:11024777-11024777
29 TARDBP NM_007375.3(TARDBP):c.*214T>C SNV Uncertain significance 291744 rs557787340 1:11082925-11082925 1:11022868-11022868
30 TARDBP NM_007375.4(TARDBP):c.*306C>T SNV Uncertain significance 874754 1:11083017-11083017 1:11022960-11022960
31 TARDBP NM_007375.4(TARDBP):c.*551C>G SNV Uncertain significance 874756 1:11083262-11083262 1:11023205-11023205
32 TARDBP NM_007375.4(TARDBP):c.*556G>A SNV Uncertain significance 874757 1:11083267-11083267 1:11023210-11023210
33 TARDBP NM_007375.4(TARDBP):c.*2260T>G SNV Uncertain significance 874799 1:11084971-11084971 1:11024914-11024914
34 TARDBP NM_007375.3(TARDBP):c.269C>T (p.Ala90Val) SNV Uncertain significance 21481 rs80356715 1:11076931-11076931 1:11016874-11016874
35 TARDBP NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) SNV Uncertain significance 21483 rs80356719 1:11082325-11082325 1:11022268-11022268
36 TARDBP NM_007375.3(TARDBP):c.1150G>C (p.Gly384Arg) SNV Uncertain significance 190399 rs797044594 1:11082616-11082616 1:11022559-11022559
37 TARDBP NM_007375.3(TARDBP):c.269C>T (p.Ala90Val) SNV Uncertain significance 21481 rs80356715 1:11076931-11076931 1:11016874-11016874
38 TARDBP NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala) SNV Uncertain significance 5231 rs121908395 1:11082335-11082335 1:11022278-11022278
39 TARDBP NM_007375.4(TARDBP):c.963C>T (p.Ala321=) SNV Uncertain significance 873793 1:11082429-11082429 1:11022372-11022372
40 TARDBP NM_007375.4(TARDBP):c.*56C>T SNV Uncertain significance 873794 1:11082767-11082767 1:11022710-11022710
41 TARDBP NM_007375.3(TARDBP):c.925G>A (p.Gly309Ser) SNV Uncertain significance 580997 rs1419402299 1:11082391-11082391 1:11022334-11022334
42 TARDBP NM_007375.3(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup) Duplication Uncertain significance 641575 rs1570725407 1:11082572-11082573 1:11022515-11022516
43 TARDBP NM_007375.3(TARDBP):c.263C>T (p.Thr88Ile) SNV Uncertain significance 537328 rs1553159049 1:11076925-11076925 1:11016868-11016868
44 TARDBP NM_007375.4(TARDBP):c.36C>T (p.Asn12=) SNV Uncertain significance 875641 1:11073820-11073820 1:11013763-11013763
45 TARDBP NM_007375.4(TARDBP):c.57A>G (p.Pro19=) SNV Uncertain significance 875642 1:11073841-11073841 1:11013784-11013784
46 TARDBP NM_007375.4(TARDBP):c.*560A>T SNV Uncertain significance 875691 1:11083271-11083271 1:11023214-11023214
47 TARDBP NM_007375.4(TARDBP):c.*591G>A SNV Uncertain significance 875692 1:11083302-11083302 1:11023245-11023245
48 TARDBP NM_007375.4(TARDBP):c.*616G>C SNV Uncertain significance 875693 1:11083327-11083327 1:11023270-11023270
49 TARDBP NM_007375.4(TARDBP):c.*663C>T SNV Uncertain significance 875694 1:11083374-11083374 1:11023317-11023317
50 TARDBP NM_007375.4(TARDBP):c.*670T>C SNV Uncertain significance 875695 1:11083381-11083381 1:11023324-11023324

Expression for Tardbp-Related Amyotrophic Lateral Sclerosis

Search GEO for disease gene expression data for Tardbp-Related Amyotrophic Lateral Sclerosis.

Pathways for Tardbp-Related Amyotrophic Lateral Sclerosis

GO Terms for Tardbp-Related Amyotrophic Lateral Sclerosis

Sources for Tardbp-Related Amyotrophic Lateral Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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