ALS6
MCID: AMY023
MIFTS: 27

Amyotrophic Lateral Sclerosis Type 6 (ALS6) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Amyotrophic Lateral Sclerosis Type 6

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Disease Ontology:8 A type of als caused by mutation located in fus gene located in chromosome 16.

MalaCards based summary: Amyotrophic Lateral Sclerosis Type 6, also known as amyotrophic lateral sclerosis 6, with, is related to inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 and amyotrophic lateral sclerosis 14, with or without frontotemporal dementia. An important gene associated with Amyotrophic Lateral Sclerosis Type 6 is FUS (fused in sarcoma). Affiliated tissues include fus gene.

Description from OMIM:46 608030

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 6

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Amyotrophic Lateral Sclerosis Type 6, Aliases & Descriptions:

Name: Amyotrophic Lateral Sclerosis Type 6 8 42
Amyotrophic Lateral Sclerosis 6, with 8 22
Als6 8 42
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 62
 
Autosomal Recessive Amyotrophic Lateral Sclerosis 6 8
Amyotrophic Lateral Sclerosis 6 62
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:0060198
OMIM46 608030

Related Diseases for Amyotrophic Lateral Sclerosis Type 6

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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 6 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 210.4
2amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
3inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 310.4
4amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia10.4
5amyotrophic lateral sclerosis 15, with or without frontotemporal dementia10.4
6amyotrophic lateral sclerosis10.4
7lateral sclerosis10.4
8amyotrophic lateral sclerosis type 1510.2
9amyotrophic lateral sclerosis type 1010.2
10frontotemporal dementia10.1
11amyotrophic lateral sclerosis type 1410.1

Graphical network of diseases related to Amyotrophic Lateral Sclerosis Type 6:



Diseases related to amyotrophic lateral sclerosis type 6

Symptoms for Amyotrophic Lateral Sclerosis Type 6

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Clinical features from OMIM:

608030

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 6

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Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis Type 6

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 6

Genetic Tests for Amyotrophic Lateral Sclerosis Type 6

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Genetic tests related to Amyotrophic Lateral Sclerosis Type 6:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 622

Anatomical Context for Amyotrophic Lateral Sclerosis Type 6

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FMA organs/tissues related to Amyotrophic Lateral Sclerosis Type 6:

14
Fus gene

Animal Models for Amyotrophic Lateral Sclerosis Type 6 or affiliated genes

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Publications for Amyotrophic Lateral Sclerosis Type 6

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Articles related to Amyotrophic Lateral Sclerosis Type 6:

idTitleAuthorsYear
1
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. (19251628)
2009

Variations for Amyotrophic Lateral Sclerosis Type 6

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Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis Type 6:

6
id Gene Name Type Significance SNP ID Assembly Location
1FUSNM_004960.3(FUS): c.1561C> G (p.Arg521Gly)single nucleotide variantPathogenicrs121909668GRCh37Chr 16, 31202739: 31202739
2FUSNM_004960.3(FUS): c.1553G> A (p.Arg518Lys)single nucleotide variantPathogenicrs121909669GRCh37Chr 16, 31202731: 31202731
3FUSNM_004960.3(FUS): c.1561C> T (p.Arg521Cys)single nucleotide variantPathogenicrs121909668GRCh37Chr 16, 31202739: 31202739
4FUSNM_004960.3(FUS): c.1562G> A (p.Arg521His)single nucleotide variantPathogenicrs121909671GRCh37Chr 16, 31202740: 31202740
5FUSNM_004960.3(FUS): c.1520G> A (p.Gly507Asp)single nucleotide variantPathogenicrs267606831GRCh37Chr 16, 31202410: 31202410
6FUSNM_004960.3(FUS): c.646C> T (p.Arg216Cys)single nucleotide variantPathogenicrs267606832GRCh37Chr 16, 31196382: 31196382
7FUSNM_004960.3(FUS): c.1570A> T (p.Arg524Trp)single nucleotide variantPathogenicrs267606833GRCh37Chr 16, 31202748: 31202748
8FUSNM_004960.3(FUS): c.1483C> T (p.Arg495Ter)single nucleotide variantPathogenicrs387906627GRCh37Chr 16, 31202373: 31202373
9FUSNM_004960.3(FUS): c.616G> A (p.Gly206Ser)single nucleotide variantPathogenicrs387906628GRCh37Chr 16, 31196352: 31196352

Expression for genes affiliated with Amyotrophic Lateral Sclerosis Type 6

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Expression patterns in normal tissues for genes affiliated with Amyotrophic Lateral Sclerosis Type 6

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis Type 6.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis Type 6

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Compounds for genes affiliated with Amyotrophic Lateral Sclerosis Type 6

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GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis Type 6

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Products for genes affiliated with Amyotrophic Lateral Sclerosis Type 6

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  • Antibodies
  • Proteins
  • Lysates

Sources for Amyotrophic Lateral Sclerosis Type 6

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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