ALS6
MCID: AMY023
MIFTS: 24

Amyotrophic Lateral Sclerosis Type 6 (ALS6)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 6

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis Type 6:

Name: Amyotrophic Lateral Sclerosis Type 6 12 53 29 6 15
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 6 73
Als6 12 53
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 12
Autosomal Recessive Amyotrophic Lateral Sclerosis 6 12
Sclerosis, Lateral, Amyotrophic, Type Type 6 40
Amyotrophic Lateral Sclerosis 6 73

Classifications:



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Disease Ontology 12 DOID:0060198

Summaries for Amyotrophic Lateral Sclerosis Type 6

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the FUS gene on chromosome 16.

MalaCards based summary : Amyotrophic Lateral Sclerosis Type 6, also known as amyotrophic lateral sclerosis 6, autosomal recessive, is related to juvenile amyotrophic lateral sclerosis and lateral sclerosis. An important gene associated with Amyotrophic Lateral Sclerosis Type 6 is FUS (FUS RNA Binding Protein). Affiliated tissues include brain.

Related Diseases for Amyotrophic Lateral Sclerosis Type 6

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22
Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis Type 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 31.4 ALS2 FUS SETX
2 lateral sclerosis 29.6 ALS2 FUS SETX TARDBP
3 amyotrophic lateral sclerosis 1 29.1 ALS2 DAO FUS SETX TARDBP
4 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 11.2
5 amyotrophic lateral sclerosis 5, juvenile 10.1
6 frontotemporal dementia 10.0 FUS TARDBP
7 dementia 10.0 FUS TARDBP
8 expressive language disorder 10.0 FUS TARDBP
9 amyotrophic lateral sclerosis 18 10.0 FUS TARDBP
10 amyotrophic lateral sclerosis type 14 10.0 FUS TARDBP
11 lethal congenital contracture syndrome 1 9.9 FUS TARDBP
12 anterior horn cell disease 9.9 FUS TARDBP
13 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 FUS TARDBP
14 brown-vialetto-van laere syndrome 9.9 ALS2 TARDBP
15 pick disease of brain 9.9 FUS TARDBP
16 amyotrophic lateral sclerosis 21 9.8 FUS SETX TARDBP
17 hereditary spastic paraplegia 9.8 ALS2 SETX
18 spinocerebellar ataxia 31 9.8 FUS SETX TARDBP
19 amyotrophic lateral sclerosis 4, juvenile 9.7 ALS2 DAO SETX
20 motor neuron disease 9.6 ALS2 FUS SETX TARDBP
21 amyotrophic lateral sclerosis 11 9.3 ALS2 DAO FUS SETX TARDBP
22 amyotrophic lateral sclerosis 7 9.3 ALS2 DAO FUS SETX TARDBP
23 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.3 ALS2 DAO FUS SETX TARDBP
24 amyotrophic lateral sclerosis 9 9.3 ALS2 DAO FUS SETX TARDBP

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis Type 6:



Diseases related to Amyotrophic Lateral Sclerosis Type 6

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis Type 6

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 6

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 6

Genetic Tests for Amyotrophic Lateral Sclerosis Type 6

Genetic tests related to Amyotrophic Lateral Sclerosis Type 6:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 6 29 FUS

Anatomical Context for Amyotrophic Lateral Sclerosis Type 6

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

41
Brain

Publications for Amyotrophic Lateral Sclerosis Type 6

Articles related to Amyotrophic Lateral Sclerosis Type 6:

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

Variations for Amyotrophic Lateral Sclerosis Type 6

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis Type 6:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 FUS NM_004960.3(FUS): c.1551C> G (p.His517Gln) single nucleotide variant Pathogenic rs121909667 GRCh37 Chromosome 16, 31202729: 31202729
2 FUS NM_004960.3(FUS): c.1551C> G (p.His517Gln) single nucleotide variant Pathogenic rs121909667 GRCh38 Chromosome 16, 31191408: 31191408
3 FUS NM_004960.3(FUS): c.1561C> G (p.Arg521Gly) single nucleotide variant Pathogenic rs121909668 GRCh37 Chromosome 16, 31202739: 31202739
4 FUS NM_004960.3(FUS): c.1561C> G (p.Arg521Gly) single nucleotide variant Pathogenic rs121909668 GRCh38 Chromosome 16, 31191418: 31191418
5 FUS NM_004960.3(FUS): c.1553G> A (p.Arg518Lys) single nucleotide variant Pathogenic rs121909669 GRCh37 Chromosome 16, 31202731: 31202731
6 FUS NM_004960.3(FUS): c.1553G> A (p.Arg518Lys) single nucleotide variant Pathogenic rs121909669 GRCh38 Chromosome 16, 31191410: 31191410
7 FUS NM_004960.3(FUS): c.1561C> T (p.Arg521Cys) single nucleotide variant Pathogenic rs121909668 GRCh37 Chromosome 16, 31202739: 31202739
8 FUS NM_004960.3(FUS): c.1561C> T (p.Arg521Cys) single nucleotide variant Pathogenic rs121909668 GRCh38 Chromosome 16, 31191418: 31191418
9 FUS NM_004960.3(FUS): c.1562G> A (p.Arg521His) single nucleotide variant Pathogenic rs121909671 GRCh37 Chromosome 16, 31202740: 31202740
10 FUS NM_004960.3(FUS): c.1562G> A (p.Arg521His) single nucleotide variant Pathogenic rs121909671 GRCh38 Chromosome 16, 31191419: 31191419
11 FUS NM_004960.3(FUS): c.1520G> A (p.Gly507Asp) single nucleotide variant Pathogenic rs267606831 GRCh37 Chromosome 16, 31202410: 31202410
12 FUS NM_004960.3(FUS): c.1520G> A (p.Gly507Asp) single nucleotide variant Pathogenic rs267606831 GRCh38 Chromosome 16, 31191089: 31191089
13 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 GRCh37 Chromosome 16, 31196382: 31196382
14 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 GRCh38 Chromosome 16, 31185061: 31185061
15 FUS NM_004960.3(FUS): c.1570A> T (p.Arg524Trp) single nucleotide variant Pathogenic rs267606833 GRCh37 Chromosome 16, 31202748: 31202748
16 FUS NM_004960.3(FUS): c.1570A> T (p.Arg524Trp) single nucleotide variant Pathogenic rs267606833 GRCh38 Chromosome 16, 31191427: 31191427
17 FUS NM_004960.3(FUS): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs387906627 GRCh37 Chromosome 16, 31202373: 31202373
18 FUS NM_004960.3(FUS): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs387906627 GRCh38 Chromosome 16, 31191052: 31191052
19 FUS NM_004960.3(FUS): c.616G> A (p.Gly206Ser) single nucleotide variant Pathogenic rs387906628 GRCh37 Chromosome 16, 31196352: 31196352
20 FUS NM_004960.3(FUS): c.616G> A (p.Gly206Ser) single nucleotide variant Pathogenic rs387906628 GRCh38 Chromosome 16, 31185031: 31185031
21 FUS NM_004960.3(FUS): c.147C> A (p.Gly49=) single nucleotide variant Benign rs741810 GRCh37 Chromosome 16, 31193942: 31193942
22 FUS NM_004960.3(FUS): c.147C> A (p.Gly49=) single nucleotide variant Benign rs741810 GRCh38 Chromosome 16, 31182621: 31182621
23 FUS NM_004960.3(FUS): c.153C> T (p.Gly51=) single nucleotide variant Benign/Likely benign rs61733962 GRCh38 Chromosome 16, 31182627: 31182627
24 FUS NM_004960.3(FUS): c.153C> T (p.Gly51=) single nucleotide variant Benign/Likely benign rs61733962 GRCh37 Chromosome 16, 31193948: 31193948
25 FUS NM_004960.3(FUS): c.190+9T> C single nucleotide variant Benign/Likely benign rs73530283 GRCh37 Chromosome 16, 31193994: 31193994
26 FUS NM_004960.3(FUS): c.190+9T> C single nucleotide variant Benign/Likely benign rs73530283 GRCh38 Chromosome 16, 31182673: 31182673
27 FUS NM_004960.3(FUS): c.291C> T (p.Tyr97=) single nucleotide variant Benign rs1052352 GRCh38 Chromosome 16, 31183958: 31183958
28 FUS NM_004960.3(FUS): c.291C> T (p.Tyr97=) single nucleotide variant Benign rs1052352 GRCh37 Chromosome 16, 31195279: 31195279
29 FUS NM_004960.3(FUS): c.524-5C> T single nucleotide variant Benign/Likely benign rs73530287 GRCh37 Chromosome 16, 31196255: 31196255
30 FUS NM_004960.3(FUS): c.524-5C> T single nucleotide variant Benign/Likely benign rs73530287 GRCh38 Chromosome 16, 31184934: 31184934
31 FUS NM_004960.3(FUS): c.*41G> A single nucleotide variant Benign/Likely benign rs80301724 GRCh37 Chromosome 16, 31202800: 31202800
32 FUS NM_004960.3(FUS): c.*41G> A single nucleotide variant Benign/Likely benign rs80301724 GRCh38 Chromosome 16, 31191479: 31191479
33 FUS NM_004960.3(FUS): c.1156C> A (p.Arg386=) single nucleotide variant Benign/Likely benign rs61733965 GRCh37 Chromosome 16, 31201450: 31201450
34 FUS NM_004960.3(FUS): c.1156C> A (p.Arg386=) single nucleotide variant Benign/Likely benign rs61733965 GRCh38 Chromosome 16, 31190129: 31190129
35 FUS NM_004960.3(FUS): c.661_663delAGT (p.Ser221del) deletion Uncertain significance rs746633090 GRCh38 Chromosome 16, 31185076: 31185078
36 FUS NM_004960.3(FUS): c.661_663delAGT (p.Ser221del) deletion Uncertain significance rs746633090 GRCh37 Chromosome 16, 31196397: 31196399
37 FUS NM_004960.3(FUS): c.1566G> A (p.Arg522=) single nucleotide variant Benign rs138901914 GRCh37 Chromosome 16, 31202744: 31202744
38 FUS NM_004960.3(FUS): c.1566G> A (p.Arg522=) single nucleotide variant Benign rs138901914 GRCh38 Chromosome 16, 31191423: 31191423
39 FUS NM_004960.3(FUS): c.198T> C (p.Tyr66=) single nucleotide variant Benign rs144853447 GRCh37 Chromosome 16, 31195186: 31195186
40 FUS NM_004960.3(FUS): c.198T> C (p.Tyr66=) single nucleotide variant Benign rs144853447 GRCh38 Chromosome 16, 31183865: 31183865
41 FUS NM_004960.3(FUS): c.684_686delCGG (p.Gly231del) deletion Likely benign GRCh38 Chromosome 16, 31185099: 31185101
42 FUS NM_004960.3(FUS): c.684_686delCGG (p.Gly231del) deletion Likely benign GRCh37 Chromosome 16, 31196420: 31196422
43 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 31202742: 31202742
44 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 31191421: 31191421
45 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign GRCh37 Chromosome 16, 31195715: 31195720
46 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign GRCh38 Chromosome 16, 31184394: 31184399
47 FUS NM_004960.3(FUS): c.636C> T (p.Asp212=) single nucleotide variant Benign rs147528034 GRCh37 Chromosome 16, 31196372: 31196372
48 FUS NM_004960.3(FUS): c.636C> T (p.Asp212=) single nucleotide variant Benign rs147528034 GRCh38 Chromosome 16, 31185051: 31185051
49 FUS NM_004960.3(FUS): c.1171C> G (p.Pro391Ala) single nucleotide variant Uncertain significance rs560450437 GRCh37 Chromosome 16, 31201598: 31201598
50 FUS NM_004960.3(FUS): c.1171C> G (p.Pro391Ala) single nucleotide variant Uncertain significance rs560450437 GRCh38 Chromosome 16, 31190277: 31190277

Expression for Amyotrophic Lateral Sclerosis Type 6

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

Pathways for Amyotrophic Lateral Sclerosis Type 6

GO Terms for Amyotrophic Lateral Sclerosis Type 6

Cellular components related to Amyotrophic Lateral Sclerosis Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendritic spine GO:0043197 8.96 ALS2 FUS
2 growth cone GO:0030426 8.62 ALS2 SETX

Molecular functions related to Amyotrophic Lateral Sclerosis Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.8 FUS SETX TARDBP

Sources for Amyotrophic Lateral Sclerosis Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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