MCID: AMY036
MIFTS: 27

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia malady

Genetic diseases, Rare diseases, Mental diseases categories

Aliases & Classifications for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia, Aliases & Descriptions:

Name: Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia 45 10
Amyotrophic Lateral Sclerosis 6, with 9 22
Amyotrophic Lateral Sclerosis Type 6 9 41
Als6 9 41
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 45
 
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 60
Autosomal Recessive Amyotrophic Lateral Sclerosis 6 9
Without Frontotemporal Dementia 9
Amyotrophic Lateral Sclerosis 6 60


Classifications:

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


External Ids:

OMIM45 608030
Disease Ontology9 DOID:0060198

Summaries for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Disease Ontology:9 A type of als caused by mutation located in fus gene located in chromosome 16.

MalaCards based summary: Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia, also known as amyotrophic lateral sclerosis 6, with, is related to amyotrophic lateral sclerosis 14, with or without frontotemporal dementia and amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, and has symptoms including autosomal dominant inheritance, hyporeflexia and gait disturbance. An important gene associated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia is FUS (fused in sarcoma). Affiliated tissues include fus gene.

Description from OMIM:45 608030

Related Diseases for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Graphical network of diseases related to Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia:



Diseases related to amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia

Symptoms for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Clinical features from OMIM:

608030

HPO human phenotypes related to Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyporeflexia HP:0001265
3 gait disturbance HP:0001288
4 fasciculations HP:0002380
5 neuronal loss in central nervous system HP:0002529
6 proximal amyotrophy HP:0007126

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Genetic tests related to Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 622

Anatomical Context for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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FMA organs/tissues related to Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia:

14
Fus gene

Animal Models for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or... or affiliated genes

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Publications for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Variations for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia:

62 (show all 18)
id Symbol AA change Variation ID SNP ID
1FUSp.Arg244CysVAR_054837
2FUSp.Arg514GlyVAR_054838
3FUSp.Arg514SerVAR_054839
4FUSp.Gly515CysVAR_054840
5FUSp.Arg518LysVAR_054842
6FUSp.Arg521CysVAR_054843
7FUSp.Arg521GlyVAR_054844
8FUSp.Arg521HisVAR_054845
9FUSp.Arg522GlyVAR_054846
10FUSp.Arg524SerVAR_054847
11FUSp.Arg524ThrVAR_054848
12FUSp.Pro525LeuVAR_054849
13FUSp.Gly191SerVAR_068918
14FUSp.Arg216CysVAR_068919
15FUSp.Gly225ValVAR_068920
16FUSp.Gly230CysVAR_068921
17FUSp.Arg234CysVAR_068922
18FUSp.Gly507AspVAR_068924

Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia:

6
id Gene Variation 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 6, Autosomal Recessive, with or...

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Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or Without Frontotemporal Dementia.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Compounds for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Products for genes affiliated with Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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Sources for Amyotrophic Lateral Sclerosis 6, Autosomal Recessive, with or...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet