ALS6
MCID: AMY023
MIFTS: 31

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 54 30 6 15
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 6 74
Als6 12 54
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 12
Autosomal Recessive Amyotrophic Lateral Sclerosis 6 12
Sclerosis, Lateral, Amyotrophic, Type Type 6 41
Amyotrophic Lateral Sclerosis 6 74

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), and among its related pathways/superpathways is Neuroscience. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 41)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 32.0 ALS2 FUS SETX SPG11
2 lateral sclerosis 29.2 ALS2 ANG FIG4 FUS OPTN SETX
3 amyotrophic lateral sclerosis 1 27.8 ALS2 ANG CTSC DAO FIG4 FUS
4 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 11.3
5 expressive language disorder 10.4 FUS TARDBP
6 spastic paraplegia 57, autosomal recessive 10.4 ALS2 SPG11
7 amyotrophic lateral sclerosis 16, juvenile 10.3 ALS2 SOD1
8 amyotrophic lateral sclerosis type 5 10.3 ALS2 SPG11
9 primary lateral sclerosis, adult, 1 10.3 ALS2 SOD1
10 amyotrophic lateral sclerosis 4, juvenile 10.3 ALS2 DAO SETX
11 spinocerebellar ataxia 31 10.3 FUS SETX TARDBP
12 lethal congenital contracture syndrome 1 10.3 FUS TARDBP
13 amyotrophic lateral sclerosis type 14 10.3 FUS OPTN TARDBP
14 extraosseous chondrosarcoma 10.2 FUS SYP
15 papillary tumor of the pineal region 10.2 MAP2 SYP
16 amyotrophic lateral sclerosis 2, juvenile 10.2 ALS2 SOD1
17 amyotrophic lateral sclerosis 18 10.2 FUS SOD1 TARDBP
18 cerebellum cancer 10.2 MAP2 SYP
19 panophthalmitis 10.2 OPTN SYP
20 chiari malformation 10.2 MAP2 SYP
21 brown-vialetto-van laere syndrome 10.2 ALS2 SOD1 TARDBP
22 dysembryoplastic neuroepithelial tumor 10.2 MAP2 SYP
23 rosette-forming glioneuronal tumor 10.2 MAP2 SYP
24 postencephalitic parkinson disease 10.2 SYP TARDBP
25 amyotrophic lateral sclerosis 5, juvenile 10.2
26 extraskeletal ewing sarcoma 10.1 FUS SYP
27 optic nerve neoplasm 10.1 MAP2 OPTN SYP
28 optic nerve glioma 10.1 MAP2 OPTN SYP
29 aceruloplasminemia 10.0 SETX SOD1 SYP
30 central nervous system disease 10.0 HTT SOD1 TARDBP
31 central neurocytoma 10.0 MAP2 SYP
32 amyotrophic lateral sclerosis 21 9.9 FUS OPTN SETX SOD1 TARDBP
33 motor neuron disease 9.8 ALS2 FUS OPTN SETX SOD1 TARDBP
34 mixed germ cell cancer 9.8 HIST2H2BE MAP2
35 nervous system disease 9.7 HTT OPTN SOD1 SYP TARDBP
36 retinitis pigmentosa 20 9.6 HIST2H2AA3 HIST2H2AC HIST2H2BE
37 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.6 ALS2 ANG DAO FIG4 FUS OPTN
38 amyotrophic lateral sclerosis 11 9.6 ALS2 ANG DAO FIG4 FUS OPTN
39 cleft palate, isolated 9.4 HIST2H2AA3 HIST2H2AC HIST2H2BE
40 amyotrophic lateral sclerosis 7 9.1 ALS2 ANG CTSC DAO FIG4 FUS
41 amyotrophic lateral sclerosis 9 9.1 ALS2 ANG CTSC DAO FIG4 FUS

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

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

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.91 FUS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.91 HIST2H2AC
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.91 HIST2H2AA3 HIST2H2AC
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.91 HIST2H2AA3 HIST2H2AC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.91 MAP2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.91 HIST2H2AC
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.91 MAP2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.91 MAP2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.91 MAP2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.91 HIST2H2AA3 HIST2H2AC
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.91 FUS HIST2H2AA3 HIST2H2AC MAP2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.91 FUS
13 no effect GR00402-S-1 9.9 ALS2 ANG CTSC DAO FIG4 FUS

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis Type 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ALS2 CTSC DAO FIG4 HTT MAP2
2 nervous system MP:0003631 9.36 ALS2 CTSC DAO FIG4 HTT MAP2

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 30 FUS

Anatomical Context for Amyotrophic Lateral Sclerosis Type 6

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 GRCh38 Chromosome 16, 31183865: 31183865
40 FUS NM_004960.3(FUS): c.198T> C (p.Tyr66=) single nucleotide variant Benign rs144853447 GRCh37 Chromosome 16, 31195186: 31195186
41 FUS NM_004960.3(FUS): c.684_686delCGG (p.Gly231del) deletion Likely benign rs72550890 GRCh38 Chromosome 16, 31185099: 31185101
42 FUS NM_004960.3(FUS): c.684_686delCGG (p.Gly231del) deletion Likely benign rs72550890 GRCh37 Chromosome 16, 31196420: 31196422
43 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance rs1555509693 GRCh37 Chromosome 16, 31202742: 31202742
44 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance rs1555509693 GRCh38 Chromosome 16, 31191421: 31191421
45 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign rs537605135 GRCh37 Chromosome 16, 31195715: 31195720
46 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign rs537605135 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 GRCh38 Chromosome 16, 31190277: 31190277
50 FUS NM_004960.3(FUS): c.1171C> G (p.Pro391Ala) single nucleotide variant Uncertain significance rs560450437 GRCh37 Chromosome 16, 31201598: 31201598

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 11.63 HTT MAP2 OPTN SOD1 SYP TARDBP

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 axon GO:0030424 9.67 ALS2 HTT SETX SPG11
2 cytoplasmic vesicle GO:0031410 9.65 ANG OPTN SOD1 SPG11 SYP
3 growth cone GO:0030426 9.5 ALS2 ANG SETX
4 dendrite GO:0030425 9.35 ALS2 FUS HTT MAP2 SPG11
5 nucleosome GO:0000786 9.33 HIST2H2AA3 HIST2H2AC HIST2H2BE
6 neuronal cell body GO:0043025 9.02 ALS2 ANG FUS MAP2 SOD1
7 nucleoplasm GO:0005654 10.06 CTSC FUS HIST2H2BE HTT OPTN PRMT1

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

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.33 ALS2 FIG4 SOD1
2 myelin assembly GO:0032288 8.96 FIG4 MPP5
3 peripheral nervous system myelin maintenance GO:0032287 8.62 MPP5 SOD1

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 9.28 CTSC FUS HTT OPTN PRMT1 SETX

Sources for Amyotrophic Lateral Sclerosis Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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38 KEGG
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46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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