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 53 29 6 15
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 6 72
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 72

Classifications:



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Disease Ontology 12 DOID:0060198
UMLS 72 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 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 behavior/neurological and nervous system

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

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 32.4 SPG11 SETX FUS ALS2
2 lateral sclerosis 28.8 TARDBP SPG11 SOD1 SETX OPTN FUS
3 amyotrophic lateral sclerosis 7 28.6 TARDBP SETX OPTN MPP5 FUS FIG4
4 amyotrophic lateral sclerosis 1 26.7 TARDBP SYP SPG11 SOD1 SETX OPTN
5 expressive language disorder 10.7 TARDBP FUS
6 spastic paraplegia 57, autosomal recessive 10.6 SPG11 ALS2
7 amyotrophic lateral sclerosis 16, juvenile 10.5 SOD1 ALS2
8 primary lateral sclerosis, adult, 1 10.5 SOD1 ALS2
9 amyotrophic lateral sclerosis 4, juvenile 10.5 SETX DAO ALS2
10 amyotrophic lateral sclerosis type 5 10.5 SPG11 ALS2
11 spinocerebellar ataxia 31 10.5 TARDBP SETX FUS
12 amyotrophic lateral sclerosis type 14 10.5 TARDBP OPTN FUS
13 papillary tumor of the pineal region 10.4 SYP MAP2
14 extraosseous chondrosarcoma 10.4 SYP FUS
15 chiari malformation 10.4 SYP MAP2
16 cerebellum cancer 10.4 SYP MAP2
17 amyotrophic lateral sclerosis 18 10.4 TARDBP SOD1 FUS
18 rosette-forming glioneuronal tumor 10.4 SYP MAP2
19 amyotrophic lateral sclerosis 2, juvenile 10.4 SOD1 ALS2
20 brown-vialetto-van laere syndrome 10.4 TARDBP SOD1 ALS2
21 lethal congenital contracture syndrome 1 10.4 TARDBP FUS
22 panophthalmitis 10.4 SYP OPTN
23 dysembryoplastic neuroepithelial tumor 10.4 SYP MAP2
24 amyotrophic lateral sclerosis 5, juvenile 10.3
25 postencephalitic parkinson disease 10.3 TARDBP SYP
26 optic nerve neoplasm 10.2 SYP OPTN MAP2
27 optic nerve glioma 10.2 SYP OPTN MAP2
28 myopathy 10.2
29 extraskeletal ewing sarcoma 10.1 SYP FUS
30 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.1
31 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 10.1
32 aceruloplasminemia 10.0 SYP SOD1 SETX
33 central nervous system disease 10.0 TARDBP SOD1 HTT
34 amyotrophic lateral sclerosis 21 9.9 TARDBP SOD1 SETX OPTN FUS
35 central neurocytoma 9.8 SYP MAP2
36 motor neuron disease 9.8 TARDBP SOD1 SETX OPTN FUS ALS2
37 nervous system disease 9.7 TARDBP SYP SOD1 OPTN HTT
38 amyotrophic lateral sclerosis 11 9.5 TARDBP SETX OPTN FUS FIG4 DAO
39 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.5 TARDBP SETX OPTN FUS FIG4 DAO
40 amyotrophic lateral sclerosis 9 8.7 TARDBP SETX OPTN MPP5 FUS FIG4

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

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis Type 6:

46
# 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 29 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 PMID Year
1
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. 38
19251628 2009

Variations for Amyotrophic Lateral Sclerosis Type 6

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis Type 6:

6 (show all 39)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FUS NM_004960.3(FUS): c.1551C> G (p.His517Gln) single nucleotide variant Pathogenic rs121909667 16:31202729-31202729 16:31191408-31191408
2 FUS NM_004960.3(FUS): c.1561C> G (p.Arg521Gly) single nucleotide variant Pathogenic rs121909668 16:31202739-31202739 16:31191418-31191418
3 FUS NM_004960.3(FUS): c.1553G> A (p.Arg518Lys) single nucleotide variant Pathogenic rs121909669 16:31202731-31202731 16:31191410-31191410
4 FUS NM_004960.3(FUS): c.1561C> T (p.Arg521Cys) single nucleotide variant Pathogenic rs121909668 16:31202739-31202739 16:31191418-31191418
5 FUS NM_004960.3(FUS): c.1562G> A (p.Arg521His) single nucleotide variant Pathogenic rs121909671 16:31202740-31202740 16:31191419-31191419
6 FUS NM_004960.3(FUS): c.1520G> A (p.Gly507Asp) single nucleotide variant Pathogenic rs267606831 16:31202410-31202410 16:31191089-31191089
7 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 16:31196382-31196382 16:31185061-31185061
8 FUS NM_004960.3(FUS): c.1570A> T (p.Arg524Trp) single nucleotide variant Pathogenic rs267606833 16:31202748-31202748 16:31191427-31191427
9 FUS NM_004960.3(FUS): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs387906627 16:31202373-31202373 16:31191052-31191052
10 FUS NM_004960.3(FUS): c.616G> A (p.Gly206Ser) single nucleotide variant Pathogenic rs387906628 16:31196352-31196352 16:31185031-31185031
11 FUS NM_004960.3(FUS): c.1507_1508AG[3] (p.Gly504fs) short repeat Pathogenic 16:31202396-31202397 16:31191076-31191077
12 FUS NM_004960.3(FUS): c.1555C> G (p.Gln519Glu) single nucleotide variant Uncertain significance 16:31202733-31202733 16:31191412-31191412
13 FUS NM_004960.3(FUS): c.1111C> T (p.Arg371Cys) single nucleotide variant Uncertain significance 16:31201405-31201405 16:31190084-31190084
14 FUS NM_004960.3(FUS): c.685_687GGT[5] (p.Gly230_Gly231dup) short repeat Uncertain significance 16:31196424-31196429 16:31185103-31185108
15 FUS NM_004960.3(FUS): c.743G> A (p.Arg248His) single nucleotide variant Uncertain significance 16:31196479-31196479 16:31185158-31185158
16 FUS NM_004960.3(FUS): c.*108C> T single nucleotide variant Uncertain significance 16:31202867-31202867 16:31191546-31191546
17 FUS NM_004960.3(FUS): c.669_671CGG[8] (p.Gly230_Gly231dup) short repeat Uncertain significance 16:31196402-31196403 16:31185084-31185086
18 FUS NM_004960.3(FUS): c.673G> A (p.Gly225Ser) single nucleotide variant Uncertain significance 16:31196409-31196409 16:31185088-31185088
19 FUS NM_004960.3(FUS): c.685_687GGT[6] (p.Gly229_Gly231dup) short repeat Uncertain significance 16:31196420-31196421 16:31185100-31185102
20 FUS NM_004960.3(FUS): c.688G> T (p.Gly230Cys) single nucleotide variant Uncertain significance 16:31196424-31196424 16:31185103-31185103
21 FUS NM_004960.3(FUS): c.1204_1206del (p.Ser402del) deletion Uncertain significance 16:31201631-31201633 16:31190310-31190312
22 FUS NM_004960.3(FUS): c.1394G> A (p.Gly465Glu) single nucleotide variant Uncertain significance 16:31202284-31202284 16:31190963-31190963
23 FUS NM_004960.3(FUS): c.1446C> T (p.Gly482=) single nucleotide variant Uncertain significance 16:31202336-31202336 16:31191015-31191015
24 FUS NM_004960.3(FUS): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs186547381 16:31201719-31201719 16:31190398-31190398
25 FUS NM_004960.3(FUS): c.661_663del (p.Ser221del) deletion Uncertain significance rs746633090 16:31196397-31196399 16:31185076-31185078
26 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance rs1555509693 16:31202742-31202742 16:31191421-31191421
27 FUS NM_004960.3(FUS): c.1171C> G (p.Pro391Ala) single nucleotide variant Uncertain significance rs560450437 16:31201598-31201598 16:31190277-31190277
28 FUS NM_004960.3(FUS): c.669_671CGG[5] (p.Gly231del) short repeat Likely benign rs72550890 16:31196420-31196422 16:31185099-31185101
29 FUS NM_004960.3(FUS): c.153C> T (p.Gly51=) single nucleotide variant Benign/Likely benign rs61733962 16:31193948-31193948 16:31182627-31182627
30 FUS NM_004960.3(FUS): c.190+9T> C single nucleotide variant Benign/Likely benign rs73530283 16:31193994-31193994 16:31182673-31182673
31 FUS NM_004960.3(FUS): c.524-5C> T single nucleotide variant Benign/Likely benign rs73530287 16:31196255-31196255 16:31184934-31184934
32 FUS NM_004960.3(FUS): c.*41G> A single nucleotide variant Benign/Likely benign rs80301724 16:31202800-31202800 16:31191479-31191479
33 FUS NM_004960.3(FUS): c.1156C> A (p.Arg386=) single nucleotide variant Benign/Likely benign rs61733965 16:31201450-31201450 16:31190129-31190129
34 FUS NM_004960.3(FUS): c.291C> T (p.Tyr97=) single nucleotide variant Benign rs1052352 16:31195279-31195279 16:31183958-31183958
35 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign rs537605135 16:31195715-31195720 16:31184394-31184399
36 FUS NM_004960.3(FUS): c.636C> T (p.Asp212=) single nucleotide variant Benign rs147528034 16:31196372-31196372 16:31185051-31185051
37 FUS NM_004960.3(FUS): c.1566G> A (p.Arg522=) single nucleotide variant Benign rs138901914 16:31202744-31202744 16:31191423-31191423
38 FUS NM_004960.3(FUS): c.198T> C (p.Tyr66=) single nucleotide variant Benign rs144853447 16:31195186-31195186 16:31183865-31183865
39 FUS NM_004960.3(FUS): c.147C> A (p.Gly49=) single nucleotide variant Benign 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 11.63 TARDBP SYP SOD1 OPTN MAP2 HTT

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 9.62 SPG11 SETX HTT ALS2
2 cytoplasmic vesicle GO:0031410 9.55 SYP SPG11 SOD1 OPTN ANG
3 growth cone GO:0030426 9.43 SETX ANG ALS2
4 dendrite GO:0030425 9.35 SPG11 MAP2 HTT FUS ALS2
5 neuronal cell body GO:0043025 9.02 SOD1 MAP2 FUS 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 locomotory behavior GO:0007626 9.33 SOD1 FIG4 ALS2
2 peripheral nervous system myelin maintenance GO:0032287 8.96 SOD1 MPP5
3 myelin assembly GO:0032288 8.62 MPP5 FIG4

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 TARDBP SYP SOD1 SETX PRMT1 OPTN

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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