ALS10
MCID: AMY019
MIFTS: 25

Amyotrophic Lateral Sclerosis Type 10 (ALS10) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Amyotrophic Lateral Sclerosis Type 10

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Disease Ontology:8 A type of als caused by mutation located in tardbp gene located in chromosome 1.

MalaCards based summary: Amyotrophic Lateral Sclerosis Type 10, also known as amyotrophic lateral sclerosis 10, is related to amyotrophic lateral sclerosis 10, with or without ftd and inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2. An important gene associated with Amyotrophic Lateral Sclerosis Type 10 is TARDBP (TAR DNA binding protein). Affiliated tissues include tardbp gene.

Description from OMIM:46 612069

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 10

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Amyotrophic Lateral Sclerosis Type 10, Aliases & Descriptions:

Name: Amyotrophic Lateral Sclerosis Type 10 8 42
Amyotrophic Lateral Sclerosis 10 8 42 62
Amyotrophic Lateral Sclerosis 10, with 8 22
 
Als10 8 42
Tardbp-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 8
Without Frontotemporal Dementia 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


External Ids:

Disease Ontology8 DOID:0060201
OMIM46 612069

Related Diseases for Amyotrophic Lateral Sclerosis Type 10

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Diseases in the Amyotrophic Lateral Sclerosis Type 14 family:

Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis Type 8
Amyotrophic Lateral Sclerosis Type 3 Amyotrophic Lateral Sclerosis Type 1
Amyotrophic Lateral Sclerosis Type 2 Amyotrophic Lateral Sclerosis Type 4
Amyotrophic Lateral Sclerosis Type 5 Amyotrophic Lateral Sclerosis Type 6
Amyotrophic Lateral Sclerosis Type 7 Amyotrophic Lateral Sclerosis Type 19
Amyotrophic Lateral Sclerosis Type 21 Amyotrophic Lateral Sclerosis Type 17
Amyotrophic Lateral Sclerosis Type 20 Amyotrophic Lateral Sclerosis Type 18
Amyotrophic Lateral Sclerosis Type 13 Amyotrophic Lateral Sclerosis Type 15
Amyotrophic Lateral Sclerosis Type 16 Amyotrophic Lateral Sclerosis Type 11
Amyotrophic Lateral Sclerosis Type 12 Amyotrophic Lateral Sclerosis Type 9
amyotrophic lateral sclerosis type 10 Tardbp-Related Amyotrophic Lateral Sclerosis
Sod1-Related Amyotrophic Lateral Sclerosis Vapb-Related Amyotrophic Lateral Sclerosis
Setx-Related Amyotrophic Lateral Sclerosis Ang-Related Amyotrophic Lateral Sclerosis
Fus-Related Amyotrophic Lateral Sclerosis Fig4-Related Amyotrophic Lateral Sclerosis
Optn-Related Amyotrophic Lateral Sclerosis Pfn1-Related Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 16, Juvenile Amyotrophic Lateral Sclerosis 5, Juvenile Recessive

Diseases related to Amyotrophic Lateral Sclerosis Type 10 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1amyotrophic lateral sclerosis 10, with or without ftd10.5
2inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 210.4
3amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
4inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 310.4
5amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia10.4
6amyotrophic lateral sclerosis 15, with or without frontotemporal dementia10.4
7amyotrophic lateral sclerosis type 610.2
8amyotrophic lateral sclerosis type 1410.2
9amyotrophic lateral sclerosis type 1510.2
10frontotemporal dementia10.1
11frontotemporal lobar degeneration with ubiquitin-positive inclusions10.1

Graphical network of diseases related to Amyotrophic Lateral Sclerosis Type 10:



Diseases related to amyotrophic lateral sclerosis type 10

Symptoms for Amyotrophic Lateral Sclerosis Type 10

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Clinical features from OMIM:

612069

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 10

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Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis Type 10

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 10

Genetic Tests for Amyotrophic Lateral Sclerosis Type 10

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Genetic tests related to Amyotrophic Lateral Sclerosis Type 10:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 1022

Anatomical Context for Amyotrophic Lateral Sclerosis Type 10

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FMA organs/tissues related to Amyotrophic Lateral Sclerosis Type 10:

14
Tardbp gene

Animal Models for Amyotrophic Lateral Sclerosis Type 10 or affiliated genes

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Publications for Amyotrophic Lateral Sclerosis Type 10

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Variations for Amyotrophic Lateral Sclerosis Type 10

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Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis Type 10:

6 (show all 31)
id Gene Name Type Significance SNP ID Assembly Location
1TARDBPNM_007375.3(TARDBP): c.*83T> Csingle nucleotide variantPathogenicrs80356744GRCh37Chr 1, 11082794: 11082794
2TARDBPNM_007375.3(TARDBP): c.1004G> A (p.Gly335Asp)single nucleotide variantPathogenicrs80356729GRCh37Chr 1, 11082470: 11082470
3TARDBPNM_007375.3(TARDBP): c.1035C> A (p.Asn345Lys)single nucleotide variantPathogenicrs80356732GRCh37Chr 1, 11082501: 11082501
4TARDBPNM_007375.3(TARDBP): c.1055A> G (p.Asn352Ser)single nucleotide variantPathogenicrs80356734GRCh37Chr 1, 11082521: 11082521
5TARDBPNM_007375.3(TARDBP): c.1083G> T (p.Arg361Ser)single nucleotide variantPathogenicrs80356735GRCh37Chr 1, 11082549: 11082549
6TARDBPNM_007375.3(TARDBP): c.1097C> G (p.Ala366Gly)single nucleotide variantPathogenicrs80356736GRCh37Chr 1, 11082563: 11082563
7TARDBPNM_007375.3(TARDBP): c.1121dupA (p.Tyr374Terfs)duplicationPathogenicrs80356737GRCh37Chr 1, 11082587: 11082587
8TARDBPNM_007375.3(TARDBP): c.1135T> C (p.Ser379Pro)single nucleotide variantPathogenicrs80356738GRCh37Chr 1, 11082601: 11082601
9TARDBPNM_007375.3(TARDBP): c.1136C> G (p.Ser379Cys)single nucleotide variantPathogenicrs80356739GRCh37Chr 1, 11082602: 11082602
10TARDBPNM_007375.3(TARDBP): c.1144G> C (p.Ala382Pro)single nucleotide variantPathogenicrs367543041GRCh37Chr 1, 11082610: 11082610
11TARDBPNM_007375.3(TARDBP): c.1147A> G (p.Ile383Val)single nucleotide variantPathogenicrs80356740GRCh37Chr 1, 11082613: 11082613
12TARDBPNM_007375.3(TARDBP): c.1168A> G (p.Asn390Asp)single nucleotide variantPathogenicrs80356741GRCh37Chr 1, 11082634: 11082634
13TARDBPNM_007375.3(TARDBP): c.1169A> G (p.Asn390Ser)single nucleotide variantPathogenicrs80356742GRCh37Chr 1, 11082635: 11082635
14TARDBPNM_007375.3(TARDBP): c.1178C> T (p.Ser393Leu)single nucleotide variantPathogenicrs80356743GRCh37Chr 1, 11082644: 11082644
15TARDBPNM_007375.3(TARDBP): c.800A> G (p.Asn267Ser)single nucleotide variantPathogenicrs80356718GRCh37Chr 1, 11082266: 11082266
16TARDBPNM_007375.3(TARDBP): c.859G> A (p.Gly287Ser)single nucleotide variantPathogenicrs80356719GRCh37Chr 1, 11082325: 11082325
17TARDBPNM_007375.3(TARDBP): c.881G> T (p.Gly294Val)single nucleotide variantPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
18TARDBPNM_007375.3(TARDBP): c.883G> A (p.Gly295Ser)single nucleotide variantPathogenicrs80356723GRCh37Chr 1, 11082349: 11082349
19TARDBPNM_007375.3(TARDBP): c.883G> C (p.Gly295Arg)single nucleotide variantPathogenicrs80356723GRCh37Chr 1, 11082349: 11082349
20TARDBPNM_007375.3(TARDBP): c.931A> G (p.Met311Val)single nucleotide variantPathogenicrs80356725GRCh37Chr 1, 11082397: 11082397
21TARDBPNM_007375.3(TARDBP): c.995G> A (p.Ser332Asn)single nucleotide variantPathogenicrs80356728GRCh37Chr 1, 11082461: 11082461
22TARDBPNM_007375.3(TARDBP): c.859G> C (p.Gly287Arg)single nucleotide variantPathogenicrs80356719GRCh37Chr 1, 11082325: 11082325
23TARDBPNM_007375.3(TARDBP): c.1009A> G (p.Met337Val)single nucleotide variantPathogenicrs80356730GRCh37Chr 1, 11082475: 11082475
24TARDBPNM_007375.3(TARDBP): c.991C> A (p.Gln331Lys)single nucleotide variantPathogenicrs80356727GRCh37Chr 1, 11082457: 11082457
25TARDBPNM_007375.3(TARDBP): c.881G> C (p.Gly294Ala)single nucleotide variantPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
26TARDBPNM_007375.3(TARDBP): c.869G> C (p.Gly290Ala)single nucleotide variantPathogenicrs121908395GRCh37Chr 1, 11082335: 11082335
27TARDBPNM_007375.3(TARDBP): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs4884357GRCh37Chr 1, 11082358: 11082358
28TARDBPNM_007375.3(TARDBP): c.506A> G (p.Asp169Gly)single nucleotide variantPathogenicrs80356717GRCh37Chr 1, 11078893: 11078893
29TARDBPNM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys)single nucleotide variantPathogenicrs80356733GRCh37Chr 1, 11082508: 11082508
30TARDBPNM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg)single nucleotide variantPathogenicrs80356731GRCh37Chr 1, 11082494: 11082494
31TARDBPNM_007375.3(TARDBP): c.943G> A (p.Ala315Thr)single nucleotide variantPathogenicrs80356726GRCh37Chr 1, 11082409: 11082409

Expression for genes affiliated with Amyotrophic Lateral Sclerosis Type 10

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Expression patterns in normal tissues for genes affiliated with Amyotrophic Lateral Sclerosis Type 10

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis Type 10.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis Type 10

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Compounds for genes affiliated with Amyotrophic Lateral Sclerosis Type 10

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GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis Type 10

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Products for genes affiliated with Amyotrophic Lateral Sclerosis Type 10

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  • Antibodies
  • Proteins
  • Lysates

Sources for Amyotrophic Lateral Sclerosis Type 10

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet