MCID: TRD001
MIFTS: 12

Tardbp-Related Amyotrophic Lateral Sclerosis malady

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

Aliases & Classifications for Tardbp-Related Amyotrophic Lateral Sclerosis

Aliases & Descriptions for Tardbp-Related Amyotrophic Lateral Sclerosis:

Name: Tardbp-Related Amyotrophic Lateral Sclerosis 23 24
Amyotrophic Lateral Sclerosis 10 24 69
Als 10 24

Characteristics:

GeneReviews:

23
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, also known as amyotrophic lateral sclerosis 10, is related to amyotrophic lateral sclerosis 10, with or without ftd 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

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 2, Juvenile Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 21
Amyotrophic Lateral Sclerosis 11 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile Amyotrophic Lateral Sclerosis 12
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 9
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 3 Amyotrophic Lateral Sclerosis 7
Amyotrophic Lateral Sclerosis 8 Amyotrophic Lateral Sclerosis 1
Amyotrophic Lateral Sclerosis Type 5 Amyotrophic Lateral Sclerosis Type 10
Amyotrophic Lateral Sclerosis Type 14 Tardbp-Related Amyotrophic Lateral Sclerosis
Als5-Related Amyotrophic Lateral Sclerosis Erbb4-Related Amyotrophic Lateral Sclerosis
Hnrnpa1-Related Amyotrophic Lateral Sclerosis Ang-Related Amyotrophic Lateral Sclerosis
Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis Fig4-Related Amyotrophic Lateral Sclerosis
Fus-Related Amyotrophic Lateral Sclerosis Optn-Related Amyotrophic Lateral Sclerosis
Pfn1-Related Amyotrophic Lateral Sclerosis Setx-Related Amyotrophic Lateral Sclerosis
Sigmar1-Related Amyotrophic Lateral Sclerosis Sod1-Related Amyotrophic Lateral Sclerosis
Sqstm1-Related Amyotrophic Lateral Sclerosis Vapb-Related Amyotrophic Lateral Sclerosis

Diseases related to Tardbp-Related Amyotrophic Lateral Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10, with or without ftd 11.3
2 lateral sclerosis 10.1

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

Genetic tests related to Tardbp-Related Amyotrophic Lateral Sclerosis:

id Genetic test Affiliating Genes
1 Tardbp-Related Amyotrophic Lateral Sclerosis 24 TARDBP

Anatomical Context for Tardbp-Related Amyotrophic Lateral Sclerosis

Publications for Tardbp-Related Amyotrophic Lateral Sclerosis

Articles related to Tardbp-Related Amyotrophic Lateral Sclerosis:

id Title Authors Year
1
TARDBP-Related Amyotrophic Lateral Sclerosis ( 20301761 )
1993

Variations for Tardbp-Related Amyotrophic Lateral Sclerosis

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

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 TARDBP NM_007375.3(TARDBP): c.1009A> G (p.Met337Val) single nucleotide variant Pathogenic rs80356730 GRCh37 Chromosome 1, 11082475: 11082475
2 TARDBP NM_007375.3(TARDBP): c.991C> A (p.Gln331Lys) single nucleotide variant Pathogenic rs80356727 GRCh37 Chromosome 1, 11082457: 11082457
3 TARDBP NM_007375.3(TARDBP): c.881G> C (p.Gly294Ala) single nucleotide variant Pathogenic rs80356721 GRCh37 Chromosome 1, 11082347: 11082347
4 TARDBP NM_007375.3(TARDBP): c.869G> C (p.Gly290Ala) single nucleotide variant Pathogenic rs121908395 GRCh37 Chromosome 1, 11082335: 11082335
5 TARDBP NM_007375.3(TARDBP): c.892G> A (p.Gly298Ser) single nucleotide variant Pathogenic rs4884357 GRCh37 Chromosome 1, 11082358: 11082358
6 TARDBP NM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys) single nucleotide variant Pathogenic rs80356733 GRCh37 Chromosome 1, 11082508: 11082508
7 TARDBP NM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg) single nucleotide variant Pathogenic rs80356731 GRCh37 Chromosome 1, 11082494: 11082494
8 TARDBP NM_007375.3(TARDBP): c.943G> A (p.Ala315Thr) single nucleotide variant Pathogenic rs80356726 GRCh37 Chromosome 1, 11082409: 11082409
9 TARDBP NM_007375.3(TARDBP): c.*697G> A single nucleotide variant Pathogenic rs387906334 GRCh37 Chromosome 1, 11083408: 11083408
10 TARDBP NM_007375.3(TARDBP): c.*83T> C single nucleotide variant Pathogenic rs80356744 GRCh37 Chromosome 1, 11082794: 11082794
11 TARDBP NM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr) single nucleotide variant Pathogenic/Likely pathogenic rs367543041 GRCh37 Chromosome 1, 11082610: 11082610
12 TARDBP NM_007375.3(TARDBP): c.881G> T (p.Gly294Val) single nucleotide variant Pathogenic rs80356721 GRCh37 Chromosome 1, 11082347: 11082347
13 TARDBP NM_007375.3(TARDBP): c.883G> A (p.Gly295Ser) single nucleotide variant Pathogenic rs80356723 GRCh37 Chromosome 1, 11082349: 11082349
14 TARDBP NM_007375.3(TARDBP): c.1150G> C (p.Gly384Arg) single nucleotide variant Pathogenic rs797044594 GRCh38 Chromosome 1, 11022559: 11022559
15 TARDBP NM_007375.3(TARDBP): c.1153T> G (p.Trp385Gly) single nucleotide variant Pathogenic rs797044595 GRCh38 Chromosome 1, 11022562: 11022562

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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