ALS6
MCID: AMY105
MIFTS: 22

Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia (ALS6)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 58
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 58 76
Als6 58 76
Amyotrophic Lateral Sclerosis 6 74

Characteristics:

HPO:

33
amyotrophic lateral sclerosis 6 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608030
MeSH 45 D000690
UMLS 74 C1842675

Summaries for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

UniProtKB/Swiss-Prot : 76 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia, also known as amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, is related to amyotrophic lateral sclerosis type 6 and juvenile amyotrophic lateral sclerosis. An important gene associated with Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia is FUS (FUS RNA Binding Protein). Affiliated tissues include brain, spinal cord and endothelial, and related phenotypes are gait disturbance and amyotrophic lateral sclerosis

Description from OMIM: 608030

Related Diseases for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Diseases in the Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia family:

Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia

Diseases related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis type 6 11.8
2 juvenile amyotrophic lateral sclerosis 11.2
3 amyotrophic lateral sclerosis 5, juvenile 10.3
4 amyotrophic lateral sclerosis 7 10.3

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Human phenotypes related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 33 HP:0001288
2 amyotrophic lateral sclerosis 33 HP:0007354
3 fasciculations 33 HP:0002380
4 hyporeflexia 33 HP:0001265
5 proximal amyotrophy 33 HP:0007126
6 neuronal loss in central nervous system 33 HP:0002529

Clinical features from OMIM:

608030

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

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

Genetic Tests for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Anatomical Context for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

42
Brain, Spinal Cord, Endothelial

Publications for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Articles related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

# Title Authors Year
1
Tract integrity in amyotrophic lateral sclerosis: 6-month evaluation using MR diffusion tensor imaging. ( 30795741 )
2019
2
Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6. ( 24738488 )
2015
3
A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report. ( 20621307 )
2010
4
Analysis of ALS5 and ALS6 allelic variability in a geographically diverse collection of Candida albicans isolates. ( 17625934 )
2007
5
Deletion of ALS5, ALS6 or ALS7 increases adhesion of Candida albicans to human vascular endothelial and buccal epithelial cells. ( 17654269 )
2007
6
The ALS6 and ALS7 genes of Candida albicans. ( 10861907 )
2000

Variations for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

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

76 (show all 18)
# Symbol AA change Variation ID SNP ID
1 FUS p.Arg244Cys VAR_054837 rs116509525
2 FUS p.Arg514Gly VAR_054838
3 FUS p.Arg514Ser VAR_054839
4 FUS p.Gly515Cys VAR_054840
5 FUS p.Arg518Lys VAR_054842 rs121909669
6 FUS p.Arg521Cys VAR_054843 rs121909668
7 FUS p.Arg521Gly VAR_054844 rs121909668
8 FUS p.Arg521His VAR_054845 rs121909671
9 FUS p.Arg522Gly VAR_054846
10 FUS p.Arg524Ser VAR_054847 rs886041389
11 FUS p.Arg524Thr VAR_054848
12 FUS p.Pro525Leu VAR_054849 rs886041390
13 FUS p.Gly191Ser VAR_068918 rs148758737
14 FUS p.Arg216Cys VAR_068919 rs267606832
15 FUS p.Gly225Val VAR_068920
16 FUS p.Gly230Cys VAR_068921 rs748374535
17 FUS p.Arg234Cys VAR_068922 rs777819849
18 FUS p.Gly507Asp VAR_068924 rs267606831

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 FUS NM_004960.3(FUS): c.1561C> G (p.Arg521Gly) single nucleotide variant Pathogenic rs121909668 GRCh37 Chromosome 16, 31202739: 31202739
2 FUS NM_004960.3(FUS): c.1561C> G (p.Arg521Gly) single nucleotide variant Pathogenic rs121909668 GRCh38 Chromosome 16, 31191418: 31191418
3 FUS NM_004960.3(FUS): c.1553G> A (p.Arg518Lys) single nucleotide variant Pathogenic rs121909669 GRCh37 Chromosome 16, 31202731: 31202731
4 FUS NM_004960.3(FUS): c.1553G> A (p.Arg518Lys) single nucleotide variant Pathogenic rs121909669 GRCh38 Chromosome 16, 31191410: 31191410
5 FUS NM_004960.3(FUS): c.1561C> T (p.Arg521Cys) single nucleotide variant Pathogenic rs121909668 GRCh37 Chromosome 16, 31202739: 31202739
6 FUS NM_004960.3(FUS): c.1561C> T (p.Arg521Cys) single nucleotide variant Pathogenic rs121909668 GRCh38 Chromosome 16, 31191418: 31191418
7 FUS NM_004960.3(FUS): c.1562G> A (p.Arg521His) single nucleotide variant Pathogenic rs121909671 GRCh37 Chromosome 16, 31202740: 31202740
8 FUS NM_004960.3(FUS): c.1562G> A (p.Arg521His) single nucleotide variant Pathogenic rs121909671 GRCh38 Chromosome 16, 31191419: 31191419
9 FUS NM_004960.3(FUS): c.1520G> A (p.Gly507Asp) single nucleotide variant Pathogenic rs267606831 GRCh37 Chromosome 16, 31202410: 31202410
10 FUS NM_004960.3(FUS): c.1520G> A (p.Gly507Asp) single nucleotide variant Pathogenic rs267606831 GRCh38 Chromosome 16, 31191089: 31191089
11 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 GRCh37 Chromosome 16, 31196382: 31196382
12 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 GRCh38 Chromosome 16, 31185061: 31185061
13 FUS NM_004960.3(FUS): c.1570A> T (p.Arg524Trp) single nucleotide variant Pathogenic rs267606833 GRCh37 Chromosome 16, 31202748: 31202748
14 FUS NM_004960.3(FUS): c.1570A> T (p.Arg524Trp) single nucleotide variant Pathogenic rs267606833 GRCh38 Chromosome 16, 31191427: 31191427
15 FUS NM_004960.3(FUS): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs387906627 GRCh37 Chromosome 16, 31202373: 31202373
16 FUS NM_004960.3(FUS): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs387906627 GRCh38 Chromosome 16, 31191052: 31191052
17 FUS NM_004960.3(FUS): c.616G> A (p.Gly206Ser) single nucleotide variant Pathogenic rs387906628 GRCh37 Chromosome 16, 31196352: 31196352
18 FUS NM_004960.3(FUS): c.616G> A (p.Gly206Ser) single nucleotide variant Pathogenic rs387906628 GRCh38 Chromosome 16, 31185031: 31185031
19 FUS NM_004960.3(FUS): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs186547381 GRCh37 Chromosome 16, 31201719: 31201719
20 FUS NM_004960.3(FUS): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs186547381 GRCh38 Chromosome 16, 31190398: 31190398
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 rs72550890 GRCh37 Chromosome 16, 31196420: 31196422
42 FUS NM_004960.3(FUS): c.684_686delCGG (p.Gly231del) deletion Likely benign rs72550890 GRCh38 Chromosome 16, 31185099: 31185101
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 GRCh38 Chromosome 16, 31185051: 31185051
48 FUS NM_004960.3(FUS): c.636C> T (p.Asp212=) single nucleotide variant Benign rs147528034 GRCh37 Chromosome 16, 31196372: 31196372
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 6 with or Without Frontotemporal...

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

Pathways for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

GO Terms for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Sources for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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
Content
Loading form....