ALS6
MCID: AMY023
MIFTS: 29

Amyotrophic Lateral Sclerosis Type 6 (ALS6)

Categories: Genetic diseases, Mental diseases, Metabolic 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 52 29 6 15
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 6 71
Als6 12 52
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 12
Autosomal Recessive Amyotrophic Lateral Sclerosis 6 12
Sclerosis, Lateral, Amyotrophic, Type Type 6 39
Amyotrophic Lateral Sclerosis 6 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0060198
UMLS 71 C1842675 C2750729

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 amyotrophic lateral sclerosis 7. An important gene associated with Amyotrophic Lateral Sclerosis Type 6 is FUS (FUS RNA Binding Protein), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include bone and 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 top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 31.3 SPG11 SIGMAR1 SETX FUS ALS2
2 amyotrophic lateral sclerosis 7 30.2 SPG11 SETX ANG ALS2
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 26.0 VAPB UBQLN2 TARDBP SPG11 SOD1 SIGMAR1
4 lateral sclerosis 25.6 VAPB UBQLN2 TARDBP SPG11 SOD1 SIGMAR1
5 amyotrophic lateral sclerosis 1 24.4 ZNF470 VAPB UBQLN2 TARDBP SPG11 SOD1
6 primary lateral sclerosis, adult, 1 10.3 SOD1 ALS2
7 amyotrophic lateral sclerosis 5, juvenile 10.3
8 spastic paraplegia 57, autosomal recessive 10.2 SPG11 ALS2
9 myopathy 10.2
10 spinocerebellar ataxia type 1 with axonal neuropathy 10.2 SETX H2AC18
11 associative agnosia 10.1 TARDBP C9orf72
12 pontocerebellar hypoplasia, type 2e 10.1 SOD1 ALS2
13 cerebellar disease 10.1 SETX RNU4ATAC H2AC18
14 semantic dementia 10.1 TARDBP C9orf72
15 agraphia 10.1 TARDBP C9orf72
16 dysgraphia 10.1 TARDBP C9orf72
17 prosopagnosia 10.1 TARDBP C9orf72
18 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 10.1
19 alzheimer disease 7 10.1 TARDBP SIGMAR1
20 writing disorder 10.1 TARDBP C9orf72
21 amyotrophic lateral sclerosis 3 10.1 ZNF470 ALS2
22 nominal aphasia 10.0 TARDBP FUS C9orf72
23 pseudobulbar palsy 10.0 TARDBP C9orf72 ALS2
24 amyotrophic lateral sclerosis 2, juvenile 10.0 SOD1 ALS2
25 perry syndrome 10.0 TARDBP FUS C9orf72
26 charcot-marie-tooth disease, axonal, type 2cc 10.0 SOD1 C9orf72
27 movement disease 10.0 TARDBP FUS C9orf72
28 amyotrophic lateral sclerosis, juvenile, with dementia 10.0 C9orf72 ANG
29 mutism 9.9 TARDBP C9orf72
30 speech and communication disorders 9.9 TARDBP FUS C9orf72
31 spastic paraplegia 4, autosomal dominant 9.8 SPG11 ALS2
32 spinal and bulbar muscular atrophy, x-linked 1 9.8 TARDBP SOD1 FUS C9orf72
33 supranuclear palsy, progressive, 1 9.8 TARDBP SOD1 FUS C9orf72
34 dementia, lewy body 9.8 TARDBP SOD1 FUS C9orf72
35 charcot-marie-tooth disease, axonal, type 2e 9.8 SPG11 SOD1 FIG4 ALS2
36 disease of mental health 9.7 TARDBP RNU4ATAC H2AC18 C9orf72
37 neuromuscular disease 9.6 SOD1 H2AC18 FIG4 C9orf72
38 frontotemporal dementia 9.5 UBQLN2 TARDBP SOD1 FUS C9orf72
39 dementia 9.5 UBQLN2 TARDBP SOD1 FUS C9orf72
40 muscular disease 9.5 TARDBP SOD1 H2AC18 FUS C9orf72
41 amyotrophic lateral sclerosis 19 9.5 UBQLN2 TARDBP SOD1 C9orf72 ALS2
42 progressive bulbar palsy 9.5 VAPB TARDBP SOD1 FUS C9orf72 ALS2
43 amyotrophic lateral sclerosis 20 9.5 SPG11 SIGMAR1 C9orf72 ALS2
44 amyotrophic lateral sclerosis type 5 9.4 ZNF470 VAPB SPG11 SOD1 SETX ALS2
45 hereditary spastic paraplegia 9.4 UBQLN2 SPG11 SETX C9orf72 ALS2
46 aphasia 9.4 TARDBP OPTN FUS C9orf72
47 amyotrophic lateral sclerosis 21 9.4 VAPB SPG11 SIGMAR1 SETX FUS ALS2
48 autosomal dominant cerebellar ataxia 9.4 TARDBP SOD1 SETX H2AC18 FUS C9orf72
49 progressive muscular atrophy 9.4 VAPB UBQLN2 TARDBP SOD1 FUS C9orf72
50 aceruloplasminemia 9.3 SPG11 SOD1 SETX RNU4ATAC H2AC18 C9orf72

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

Anatomical Context for Amyotrophic Lateral Sclerosis Type 6

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

40
Bone, Brain

Publications for Amyotrophic Lateral Sclerosis Type 6

Articles related to Amyotrophic Lateral Sclerosis Type 6:

# Title Authors PMID Year
1
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. 61
19251628 2009

Variations for Amyotrophic Lateral Sclerosis Type 6

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis Type 6:

6 (show all 36) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FUS NM_004960.3(FUS):c.1551C>G (p.His517Gln)SNV Pathogenic 16221 rs121909667 16:31202729-31202729 16:31191408-31191408
2 FUS NM_004960.3(FUS):c.1561C>G (p.Arg521Gly)SNV Pathogenic 16222 rs121909668 16:31202739-31202739 16:31191418-31191418
3 FUS NM_004960.3(FUS):c.1553G>A (p.Arg518Lys)SNV Pathogenic 16223 rs121909669 16:31202731-31202731 16:31191410-31191410
4 FUS NM_004960.3(FUS):c.1561C>T (p.Arg521Cys)SNV Pathogenic 16224 rs121909668 16:31202739-31202739 16:31191418-31191418
5 FUS NM_004960.3(FUS):c.1562G>A (p.Arg521His)SNV Pathogenic 16225 rs121909671 16:31202740-31202740 16:31191419-31191419
6 FUS NM_004960.3(FUS):c.1520G>A (p.Gly507Asp)SNV Pathogenic 16226 rs267606831 16:31202410-31202410 16:31191089-31191089
7 FUS NM_004960.3(FUS):c.646C>T (p.Arg216Cys)SNV Pathogenic 16227 rs267606832 16:31196382-31196382 16:31185061-31185061
8 FUS NM_004960.3(FUS):c.1570A>T (p.Arg524Trp)SNV Pathogenic 16228 rs267606833 16:31202748-31202748 16:31191427-31191427
9 FUS NM_004960.3(FUS):c.1483C>T (p.Arg495Ter)SNV Pathogenic 29707 rs387906627 16:31202373-31202373 16:31191052-31191052
10 FUS NM_004960.3(FUS):c.616G>A (p.Gly206Ser)SNV Pathogenic 29708 rs387906628 16:31196352-31196352 16:31185031-31185031
11 FUS NM_004960.3(FUS):c.1394-2deldeletion Pathogenic 447355 rs1555509569 16:31202282-31202282 16:31190961-31190961
12 FUS NM_001170634.1(FUS):c.1504_1505AG[3] (p.Gly503fs)short repeat Pathogenic 665141 16:31202396-31202397 16:31191075-31191076
13 FUS NM_004960.4(FUS):c.1540A>T (p.Arg514Trp)SNV Likely pathogenic 803253 16:31202430-31202430 16:31191109-31191109
14 FUS NM_004960.4(FUS):c.1542-1G>TSNV Uncertain significance 803254 16:31202719-31202719 16:31191398-31191398
15 FUS NM_004960.3(FUS):c.1555C>G (p.Gln519Glu)SNV Uncertain significance 650787 16:31202733-31202733 16:31191412-31191412
16 FUS NM_004960.3(FUS):c.661_663del (p.Ser221del)deletion Uncertain significance 503718 rs746633090 16:31196397-31196399 16:31185076-31185078
17 FUS NM_004960.3(FUS):c.1564A>G (p.Arg522Gly)SNV Uncertain significance 540279 rs1555509693 16:31202742-31202742 16:31191421-31191421
18 FUS NM_004960.3(FUS):c.1292C>T (p.Pro431Leu)SNV Uncertain significance 37069 rs186547381 16:31201719-31201719 16:31190398-31190398
19 FUS NM_004960.3(FUS):c.1171C>G (p.Pro391Ala)SNV Uncertain significance 540278 rs560450437 16:31201598-31201598 16:31190277-31190277
20 FUS NM_004960.3(FUS):c.1111C>T (p.Arg371Cys)SNV Uncertain significance 566220 rs773141319 16:31201405-31201405 16:31190084-31190084
21 FUS NM_004960.3(FUS):c.685_687GGT[5] (p.Gly230_Gly231dup)short repeat Uncertain significance 582491 rs757651881 16:31196420-31196421 16:31185099-31185100
22 FUS NM_004960.3(FUS):c.743G>A (p.Arg248His)SNV Uncertain significance 581527 rs760351730 16:31196479-31196479 16:31185158-31185158
23 FUS NM_004960.3(FUS):c.*108C>TSNV Uncertain significance 567482 rs780606789 16:31202867-31202867 16:31191546-31191546
24 FUS NM_001170634.1(FUS):c.666_668CGG[8] (p.Gly229_Gly230dup)short repeat Uncertain significance 649131 16:31196402-31196403 16:31185081-31185082
25 FUS NM_004960.3(FUS):c.673G>A (p.Gly225Ser)SNV Uncertain significance 666021 16:31196409-31196409 16:31185088-31185088
26 FUS NM_001170634.1(FUS):c.682_684GGT[6] (p.Gly228_Gly230dup)short repeat Uncertain significance 654997 16:31196420-31196421 16:31185099-31185100
27 FUS NM_004960.3(FUS):c.688G>T (p.Gly230Cys)SNV Uncertain significance 647759 16:31196424-31196424 16:31185103-31185103
28 FUS NM_004960.3(FUS):c.1204_1206del (p.Ser402del)deletion Uncertain significance 653781 16:31201631-31201633 16:31190310-31190312
29 FUS NM_004960.3(FUS):c.1394G>A (p.Gly465Glu)SNV Uncertain significance 659572 16:31202284-31202284 16:31190963-31190963
30 FUS NM_004960.3(FUS):c.1446C>T (p.Gly482=)SNV Uncertain significance 665814 16:31202336-31202336 16:31191015-31191015
31 FUS NM_004960.3(FUS):c.153C>T (p.Gly51=)SNV Benign/Likely benign 259595 rs61733962 16:31193948-31193948 16:31182627-31182627
32 FUS NM_004960.3(FUS):c.190+9T>CSNV Benign/Likely benign 259596 rs73530283 16:31193994-31193994 16:31182673-31182673
33 FUS NM_004960.3(FUS):c.*41G>ASNV Benign/Likely benign 318993 rs80301724 16:31202800-31202800 16:31191479-31191479
34 FUS NM_004960.3(FUS):c.291C>T (p.Tyr97=)SNV Benign 259598 rs1052352 16:31195279-31195279 16:31183958-31183958
35 FUS NM_004960.3(FUS):c.521_523+3delGAGGTGshort repeat Benign 540281 rs537605135 16:31195715-31195720 16:31184372-31184377
36 FUS NM_004960.3(FUS):c.147C>A (p.Gly49=)SNV Benign 259594 rs741810 16:31193942-31193942 16:31182621-31182621

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

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

# Super pathways Score Top Affiliating Genes
1 11.46 TARDBP SOD1 SIGMAR1 OPTN

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 nucleus GO:0005634 10.15 ZNF470 UBQLN2 TARDBP SPG11 SOD1 SIGMAR1
2 neuronal cell body GO:0043025 9.62 SOD1 FUS ANG ALS2
3 axon GO:0030424 9.56 SPG11 SETX C9orf72 ALS2
4 cytoplasmic vesicle GO:0031410 9.5 UBQLN2 SPG11 SOD1 SIGMAR1 OPTN C9orf72
5 autophagosome GO:0005776 9.33 UBQLN2 OPTN C9orf72
6 growth cone GO:0030426 9.02 SIGMAR1 SETX C9orf72 ANG ALS2

Biological processes related to Amyotrophic Lateral Sclerosis Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.5 UBQLN2 OPTN C9orf72
2 axon extension GO:0048675 9.26 SPG11 C9orf72
3 gene expression GO:0010467 9.16 TARDBP FUS
4 regulation of autophagosome assembly GO:2000785 8.96 UBQLN2 C9orf72
5 locomotory behavior GO:0007626 8.8 SOD1 FIG4 ALS2

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

# Name GO ID Score Top Affiliating Genes
1 polyubiquitin modification-dependent protein binding GO:0031593 8.96 UBQLN2 OPTN
2 Rab GTPase binding GO:0017137 8.8 OPTN C9orf72 ALS2

Sources for Amyotrophic Lateral Sclerosis Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....