ALS6
MCID: AMY105
MIFTS: 29

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 56
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 56 73
Als6 56 73
Amyotrophic Lateral Sclerosis 6 71

Characteristics:

HPO:

31
amyotrophic lateral sclerosis 6 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 608030
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
UMLS 71 C1842675

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

UniProtKB/Swiss-Prot : 73 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 fasciculations

More information from OMIM: 608030 PS105400

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 11.9
2 juvenile amyotrophic lateral sclerosis 11.3
3 amyotrophic lateral sclerosis 5, juvenile 10.3
4 amyotrophic lateral sclerosis 7 10.3
5 amyotrophic lateral sclerosis 1 10.2
6 lateral sclerosis 10.2
7 myopathy 10.2

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:



Diseases related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 31 HP:0001288
2 fasciculations 31 HP:0002380
3 hyporeflexia 31 HP:0001265
4 proximal amyotrophy 31 HP:0007126
5 neuronal loss in central nervous system 31 HP:0002529
6 amyotrophic lateral sclerosis 31 HP:0007354

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:

40
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:

(show all 43)
# Title Authors PMID Year
1
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. 6 56 61
19251628 2009
2
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 56 6
20577002 2010
3
Novel missense and truncating mutations in FUS/TLS in familial ALS. 56 6
20660363 2010
4
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. 56 6
20668259 2010
5
Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. 6 56
20385912 2010
6
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. 56 6
19861302 2010
7
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. 56 6
19251627 2009
8
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. 6 56
12840784 2003
9
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. 56 6
12858291 2003
10
Exome sequencing identifies FUS mutations as a cause of essential tremor. 6
22863194 2012
11
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
12
Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS. 56
21280085 2011
13
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. 6
20699327 2010
14
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. 56
19924424 2010
15
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. 56
19741215 2009
16
Mutations in FUS cause FALS and SALS in French and French Canadian populations. 56
19741216 2009
17
A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. 56
12830400 2003
18
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
19
FUS-ALS presenting with myoclonic jerks in a 17-year-old man. 61
30879340 2019
20
New N-(oxazolylmethyl)-thiazolidinedione Active against Candida albicans Biofilm: Potential Als Proteins Inhibitors. 61
30279343 2018
21
A new self-completing questionnaire for motor and non-motorsymptoms in Parkinson's disease (MASAC-PD31). 61
30566311 2017
22
Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6. 61
24738488 2015
23
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update. 61
23559573 2013
24
Localization of fused in sarcoma (FUS) protein to the post-synaptic density in the brain. 61
22526020 2012
25
Frequency and expression of ALS and HWP1 genotypes in Candida albicans strains isolated from Mexican patients suffering from vaginal candidosis. 61
22429754 2012
26
Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations. 61
21965298 2012
27
FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population. 61
21128870 2011
28
[Gene mutations in familial amyotrophic lateral sclerosis]. 61
21301041 2011
29
[FUS/TLS as a polyglutamine aggregate interacting protein]. 61
21921521 2010
30
[Clinical and pathological characteristics of FUS/TLS-associated amyotrophic lateral sclerosis (ALS)]. 61
21921522 2010
31
A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report. 61
20621307 2010
32
Real-time PCR expression profiling of genes encoding potential virulence factors in Candida albicans biofilms: identification of model-dependent and -independent gene expression. 61
20398368 2010
33
The RNA-binding protein FUS/TLS is a common aggregate-interacting protein in polyglutamine diseases. 61
19833157 2010
34
Recent advances in the genetics of amyotrophic lateral sclerosis. 61
19348708 2009
35
Property differences among the four major Candida albicans strain clades. 61
19151328 2009
36
Analysis of ALS5 and ALS6 allelic variability in a geographically diverse collection of Candida albicans isolates. 61
17625934 2007
37
Deletion of ALS5, ALS6 or ALS7 increases adhesion of Candida albicans to human vascular endothelial and buccal epithelial cells. 61
17654269 2007
38
RT-PCR analysis of Candida albicans ALS gene expression in a hyposalivatory rat model of oral candidiasis and in HIV-positive human patients. 61
16519012 2006
39
Construction and real-time RT-PCR validation of Candida albicans PALS-GFP reporter strains and their use in flow cytometry analysis of ALS gene expression in budding and filamenting cells. 61
15817774 2005
40
Comparison between Candida albicans agglutinin-like sequence gene expression patterns in human clinical specimens and models of vaginal candidiasis. 61
15731066 2005
41
RT-PCR detection of Candida albicans ALS gene expression in the reconstituted human epithelium (RHE) model of oral candidiasis and in model biofilms. 61
14766904 2004
42
Genetic epidemiology of amyotrophic lateral sclerosis. 61
12630951 2003
43
The ALS6 and ALS7 genes of Candida albicans. 61
10861907 2000

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

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

6 (show top 50) (show all 190) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FUS NM_004960.3(FUS):c.1394-2deldeletion Pathogenic 447355 rs1555509569 16:31202282-31202282 16:31190961-31190961
2 FUS NM_001170634.1(FUS):c.1504_1505AG[3] (p.Gly503fs)short repeat Pathogenic 665141 16:31202396-31202397 16:31191075-31191076
3 FUS NM_004960.4(FUS):c.1394-1G>TSNV Pathogenic 873230 16:31202283-31202283 16:31190962-31190962
4 FUS NM_004960.4(FUS):c.1555C>T (p.Gln519Ter)SNV Pathogenic 873231 16:31202733-31202733 16:31191412-31191412
5 FUS NM_004960.3(FUS):c.1561C>G (p.Arg521Gly)SNV Pathogenic 16222 rs121909668 16:31202739-31202739 16:31191418-31191418
6 FUS NM_004960.3(FUS):c.1553G>A (p.Arg518Lys)SNV Pathogenic 16223 rs121909669 16:31202731-31202731 16:31191410-31191410
7 FUS NM_004960.3(FUS):c.1561C>T (p.Arg521Cys)SNV Pathogenic 16224 rs121909668 16:31202739-31202739 16:31191418-31191418
8 FUS NM_004960.3(FUS):c.1562G>A (p.Arg521His)SNV Pathogenic 16225 rs121909671 16:31202740-31202740 16:31191419-31191419
9 FUS NM_004960.3(FUS):c.1520G>A (p.Gly507Asp)SNV Pathogenic 16226 rs267606831 16:31202410-31202410 16:31191089-31191089
10 FUS NM_004960.3(FUS):c.646C>T (p.Arg216Cys)SNV Pathogenic 16227 rs267606832 16:31196382-31196382 16:31185061-31185061
11 FUS NM_004960.3(FUS):c.1570A>T (p.Arg524Trp)SNV Pathogenic 16228 rs267606833 16:31202748-31202748 16:31191427-31191427
12 FUS NM_004960.3(FUS):c.1483C>T (p.Arg495Ter)SNV Pathogenic 29707 rs387906627 16:31202373-31202373 16:31191052-31191052
13 FUS NM_004960.3(FUS):c.616G>A (p.Gly206Ser)SNV Pathogenic 29708 rs387906628 16:31196352-31196352 16:31185031-31185031
14 FUS NM_004960.3(FUS):c.1574C>T (p.Pro525Leu)SNV Pathogenic 280110 rs886041390 16:31202752-31202752 16:31191431-31191431
15 FUS NM_004960.4(FUS):c.1562G>T (p.Arg521Leu)SNV Likely pathogenic 873232 16:31202740-31202740 16:31191419-31191419
16 FUS NM_004960.4(FUS):c.1571G>T (p.Arg524Met)SNV Likely pathogenic 873233 16:31202749-31202749 16:31191428-31191428
17 FUS NM_004960.4(FUS):c.1540A>T (p.Arg514Trp)SNV Likely pathogenic 803253 16:31202430-31202430 16:31191109-31191109
18 FUS NM_004960.4(FUS):c.412_429GGACAGCAGCAAAGCTAT[1] (p.138_143GQQQSY[1])short repeat Likely pathogenic 873229 16:31195605-31195622 16:31184284-31184301
19 FUS NM_004960.4(FUS):c.669_671CGG[4] (p.Gly230_Gly231del)short repeat Conflicting interpretations of pathogenicity 704279 16:31196403-31196408 16:31185082-31185087
20 FUS NM_004960.4(FUS):c.676G>A (p.Gly226Ser)SNV Conflicting interpretations of pathogenicity 804816 16:31196412-31196412 16:31185091-31185091
21 FUS NM_004960.3(FUS):c.*48G>ASNV Conflicting interpretations of pathogenicity 493179 rs376510148 16:31202807-31202807 16:31191486-31191486
22 FUS NM_004960.3(FUS):c.1080C>T (p.Ser360=)SNV Conflicting interpretations of pathogenicity 444368 rs190724342 16:31201374-31201374 16:31190053-31190053
23 FUS NM_004960.3(FUS):c.1564A>G (p.Arg522Gly)SNV Uncertain significance 540279 rs1555509693 16:31202742-31202742 16:31191421-31191421
24 FUS NM_004960.3(FUS):c.661_663del (p.Ser221del)deletion Uncertain significance 503718 rs746633090 16:31196397-31196399 16:31185076-31185078
25 FUS NM_004960.3(FUS):c.1171C>G (p.Pro391Ala)SNV Uncertain significance 540278 rs560450437 16:31201598-31201598 16:31190277-31190277
26 FUS NM_004960.3(FUS):c.1111C>T (p.Arg371Cys)SNV Uncertain significance 566220 rs773141319 16:31201405-31201405 16:31190084-31190084
27 FUS NM_004960.3(FUS):c.685_687GGT[5] (p.Gly230_Gly231dup)short repeat Uncertain significance 582491 rs757651881 16:31196420-31196421 16:31185099-31185100
28 FUS NM_004960.3(FUS):c.743G>A (p.Arg248His)SNV Uncertain significance 581527 rs760351730 16:31196479-31196479 16:31185158-31185158
29 FUS NM_004960.3(FUS):c.*108C>TSNV Uncertain significance 567482 rs780606789 16:31202867-31202867 16:31191546-31191546
30 FUS NM_001170634.1(FUS):c.666_668CGG[8] (p.Gly229_Gly230dup)short repeat Uncertain significance 649131 16:31196402-31196403 16:31185081-31185082
31 FUS NM_004960.3(FUS):c.673G>A (p.Gly225Ser)SNV Uncertain significance 666021 16:31196409-31196409 16:31185088-31185088
32 FUS NM_004960.4(FUS):c.685_687GGT[6] (p.Gly229_Gly231dup)short repeat Uncertain significance 654997 16:31196420-31196421 16:31185099-31185100
33 FUS NM_004960.3(FUS):c.688G>T (p.Gly230Cys)SNV Uncertain significance 647759 16:31196424-31196424 16:31185103-31185103
34 FUS NM_004960.3(FUS):c.1204_1206del (p.Ser402del)deletion Uncertain significance 653781 16:31201631-31201633 16:31190310-31190312
35 FUS NM_004960.3(FUS):c.1394G>A (p.Gly465Glu)SNV Uncertain significance 659572 16:31202284-31202284 16:31190963-31190963
36 FUS NM_004960.3(FUS):c.1446C>T (p.Gly482=)SNV Uncertain significance 665814 16:31202336-31202336 16:31191015-31191015
37 FUS NC_000016.10:g.(?_31182388)_(31194881_?)dupduplication Uncertain significance 831798 16:31193709-31206202
38 FUS NM_004960.4(FUS):c.182G>A (p.Ser61Asn)SNV Uncertain significance 834592 16:31193977-31193977 16:31182656-31182656
39 FUS NM_004960.4(FUS):c.238G>A (p.Gly80Ser)SNV Uncertain significance 851344 16:31195226-31195226 16:31183905-31183905
40 FUS NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr)indel Uncertain significance 838008 16:31195279-31195280 16:31183958-31183959
41 FUS NM_004960.4(FUS):c.493_495del (p.Ser165del)deletion Uncertain significance 850400 16:31195687-31195689 16:31184366-31184368
42 FUS NM_004960.4(FUS):c.1414C>T (p.Arg472Cys)SNV Uncertain significance 834593 16:31202304-31202304 16:31190983-31190983
43 FUS NM_004960.4(FUS):c.1545_1547dup (p.Glu516_His517insAsp)duplication Uncertain significance 843607 16:31202722-31202723 16:31191401-31191402
44 FUS NM_004960.4(FUS):c.1541+1G>ASNV Uncertain significance 847302 16:31202432-31202432 16:31191111-31191111
45 FUS NM_004960.3(FUS):c.1555C>G (p.Gln519Glu)SNV Uncertain significance 650787 16:31202733-31202733 16:31191412-31191412
46 FUS NM_004960.3(FUS):c.1376C>T (p.Pro459Leu)SNV Uncertain significance 430234 rs1131691846 16:31202146-31202146 16:31190825-31190825
47 FUS NM_004960.4(FUS):c.1542-1G>TSNV Uncertain significance 803254 16:31202719-31202719 16:31191398-31191398
48 FUS NM_004960.4(FUS):c.-51C>TSNV Uncertain significance 885383 16:31191485-31191485 16:31180164-31180164
49 FUS NM_004960.4(FUS):c.-49G>ASNV Uncertain significance 885384 16:31191487-31191487 16:31180166-31180166
50 FUS NM_004960.4(FUS):c.-48C>GSNV Uncertain significance 885385 16:31191488-31191488 16:31180167-31180167

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

73 (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 rs155550969
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

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...

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