ALS10
MCID: AMY019
MIFTS: 31

Amyotrophic Lateral Sclerosis Type 10 (ALS10) malady

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 10

Aliases & Descriptions for Amyotrophic Lateral Sclerosis Type 10:

Name: Amyotrophic Lateral Sclerosis Type 10 12 50 14
Amyotrophic Lateral Sclerosis 10 12 50 29 69
Als10 12 50
Amyotrophic Lateral Sclerosis 10, with or Without Frontotemporal Dementia 12
Tardbp-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 12

Classifications:



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Disease Ontology 12 DOID:0060201

Summaries for Amyotrophic Lateral Sclerosis Type 10

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the TARDBP gene on 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 dementia, frontotemporal. An important gene associated with Amyotrophic Lateral Sclerosis Type 10 is MRPS22 (Mitochondrial Ribosomal Protein S22). The drugs Ursodeoxycholic acid and Tauroursodeoxycholic acid have been mentioned in the context of this disorder. Related phenotype is immune system.

Related Diseases for Amyotrophic Lateral Sclerosis Type 10

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 Amyotrophic Lateral Sclerosis Type 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
id Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10, with or without ftd 28.4 ALS2 ANG ANXA5 APOH CYP19A1 DAO
2 dementia, frontotemporal 10.8
3 amyotrophic lateral sclerosis 1 10.8
4 frontotemporal lobar degeneration with ubiquitin-positive inclusions 10.8
5 myoclonic cerebellar dyssynergia 10.2 FUS TARDBP
6 cerebral arteritis 10.2 FUS TARDBP
7 osteogenesis imperfecta, type vi 10.2 FUS TARDBP
8 ichthyosis prematurity syndrome 10.1 ALS2 SETX
9 lissencephaly 6, with microcephaly 10.1 FUS SETX TARDBP
10 cardiomyopathy, dilated, 1u 10.1 FUS RBM8A TARDBP
11 cogan-reese syndrome 10.1 FUS OPTN TARDBP
12 systemic lupus erythematous, association with 6 10.0 ALS2 DAO FUS TARDBP
13 keratoconus 6 10.0 FUS TARDBP
14 kallmann syndrome 3 10.0 ALS2 DAO FUS SETX
15 mucopolysaccharidosis iv 10.0 ALS2 SETX TARDBP
16 sting-associated vasculopathy, infantile-onset 10.0 FUS OPTN SETX TARDBP
17 deep keratitis 10.0 OPTN SAMHD1
18 stereotypic movement disorder 9.6 ALS2 ANG FIG4 FUS OPTN SETX
19 polymicrogyria, bilateral temporooccipital 9.5 ALS2 ANG DAO FIG4 FUS OPTN
20 autism 18 9.5 ALS2 ANG DAO FIG4 FUS OPTN
21 retinitis pigmentosa 46 9.5 ALS2 ANG DAO FIG4 FUS MRPS22
22 long qt syndrome 5 9.4 ALS2 ANG DAO FIG4 FUS MRPS22
23 cogan syndrome 8.0 ALS2 ANG ANXA5 APOH CYP19A1 DAO

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis Type 10:



Diseases related to Amyotrophic Lateral Sclerosis Type 10

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis Type 10

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis Type 10:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.28 ALS2 ANXA5 CYP19A1 FIG4 LTBP3 OPTN

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 10

Drugs for Amyotrophic Lateral Sclerosis Type 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
2
Tauroursodeoxycholic acid Approved, Investigational Phase 2 14605-22-2 12443252
3 Cholagogues and Choleretics Phase 2
4 Gastrointestinal Agents Phase 2
5 Neuroprotective Agents Phase 2
6 Taurochenodeoxycholic Acid Phase 2
7 Anti-Infective Agents Phase 2
8 Antiviral Agents Phase 2
9 Antioxidants Phase 2
10 Mitogens Phase 1
11
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy and Tolerability of Tauroursodeoxycholic Acid in Amyotrophic Lateral Sclerosis Completed NCT00877604 Phase 2
2 CNS10-NPC-GDNF for the Treatment of ALS Recruiting NCT02943850 Phase 1
3 Muscle Training of Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01504009
4 Relationship Between Respiratory Functional Tests and Image Thoracic Techniques in Patients With Neuromuscular Diseases Completed NCT01090674

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 10

Genetic Tests for Amyotrophic Lateral Sclerosis Type 10

Genetic tests related to Amyotrophic Lateral Sclerosis Type 10:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 10 29

Anatomical Context for Amyotrophic Lateral Sclerosis Type 10

Publications for Amyotrophic Lateral Sclerosis Type 10

Variations for Amyotrophic Lateral Sclerosis Type 10

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis Type 10:

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 Amyotrophic Lateral Sclerosis Type 10

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

Pathways for Amyotrophic Lateral Sclerosis Type 10

GO Terms for Amyotrophic Lateral Sclerosis Type 10

Cellular components related to Amyotrophic Lateral Sclerosis Type 10 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.26 ALS2 ANG FUS RBM8A
2 growth cone GO:0030426 8.8 ALS2 ANG SETX

Molecular functions related to Amyotrophic Lateral Sclerosis Type 10 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.55 ANG FUS RBM8A SAMHD1 TARDBP
2 identical protein binding GO:0042802 9.35 APOH FUS OPTN SETX TARDBP
3 ribonuclease activity GO:0004540 8.62 ANG SAMHD1

Sources for Amyotrophic Lateral Sclerosis Type 10

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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