MCID: AMY105
MIFTS: 20

Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia

Categories: Genetic diseases, Mental 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 57
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 57 75
Als6 57 75
Amyotrophic Lateral Sclerosis 6 73

Characteristics:

HPO:

32
amyotrophic lateral sclerosis 6 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608030
MeSH 44 D000690
UMLS 73 C1842675

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

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia is FUS (FUS RNA Binding Protein). Affiliated tissues include brain and spinal cord, and related phenotypes are hyporeflexia and gait disturbance

Description from OMIM: 608030

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

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 11.6

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

Clinical features from OMIM:

608030

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 gait disturbance 32 HP:0001288
3 fasciculations 32 HP:0002380
4 neuronal loss in central nervous system 32 HP:0002529
5 proximal amyotrophy 32 HP:0007126
6 amyotrophic lateral sclerosis 32 HP:0007354

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:

41
Brain, Spinal Cord

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
Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6. ( 24738488 )
2015

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:

75 (show all 18)
# Symbol AA change Variation ID SNP ID
1 FUS p.Arg244Cys VAR_054837
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 all 46)
# 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.147C> A (p.Gly49=) single nucleotide variant Benign rs741810 GRCh37 Chromosome 16, 31193942: 31193942
20 FUS NM_004960.3(FUS): c.147C> A (p.Gly49=) single nucleotide variant Benign rs741810 GRCh38 Chromosome 16, 31182621: 31182621
21 FUS NM_004960.3(FUS): c.153C> T (p.Gly51=) single nucleotide variant Benign/Likely benign rs61733962 GRCh38 Chromosome 16, 31182627: 31182627
22 FUS NM_004960.3(FUS): c.153C> T (p.Gly51=) single nucleotide variant Benign/Likely benign rs61733962 GRCh37 Chromosome 16, 31193948: 31193948
23 FUS NM_004960.3(FUS): c.190+9T> C single nucleotide variant Benign/Likely benign rs73530283 GRCh37 Chromosome 16, 31193994: 31193994
24 FUS NM_004960.3(FUS): c.190+9T> C single nucleotide variant Benign/Likely benign rs73530283 GRCh38 Chromosome 16, 31182673: 31182673
25 FUS NM_004960.3(FUS): c.291C> T (p.Tyr97=) single nucleotide variant Benign rs1052352 GRCh38 Chromosome 16, 31183958: 31183958
26 FUS NM_004960.3(FUS): c.291C> T (p.Tyr97=) single nucleotide variant Benign rs1052352 GRCh37 Chromosome 16, 31195279: 31195279
27 FUS NM_004960.3(FUS): c.524-5C> T single nucleotide variant Benign/Likely benign rs73530287 GRCh37 Chromosome 16, 31196255: 31196255
28 FUS NM_004960.3(FUS): c.524-5C> T single nucleotide variant Benign/Likely benign rs73530287 GRCh38 Chromosome 16, 31184934: 31184934
29 FUS NM_004960.3(FUS): c.*41G> A single nucleotide variant Benign/Likely benign rs80301724 GRCh37 Chromosome 16, 31202800: 31202800
30 FUS NM_004960.3(FUS): c.*41G> A single nucleotide variant Benign/Likely benign rs80301724 GRCh38 Chromosome 16, 31191479: 31191479
31 FUS NM_004960.3(FUS): c.1156C> A (p.Arg386=) single nucleotide variant Benign/Likely benign rs61733965 GRCh37 Chromosome 16, 31201450: 31201450
32 FUS NM_004960.3(FUS): c.1156C> A (p.Arg386=) single nucleotide variant Benign/Likely benign rs61733965 GRCh38 Chromosome 16, 31190129: 31190129
33 FUS NM_004960.3(FUS): c.1566G> A (p.Arg522=) single nucleotide variant Benign rs138901914 GRCh37 Chromosome 16, 31202744: 31202744
34 FUS NM_004960.3(FUS): c.1566G> A (p.Arg522=) single nucleotide variant Benign rs138901914 GRCh38 Chromosome 16, 31191423: 31191423
35 FUS NM_004960.3(FUS): c.198T> C (p.Tyr66=) single nucleotide variant Benign rs144853447 GRCh37 Chromosome 16, 31195186: 31195186
36 FUS NM_004960.3(FUS): c.198T> C (p.Tyr66=) single nucleotide variant Benign rs144853447 GRCh38 Chromosome 16, 31183865: 31183865
37 FUS NM_004960.3(FUS): c.684_686delCGG (p.Gly231del) deletion Likely benign GRCh37 Chromosome 16, 31196420: 31196422
38 FUS NM_004960.3(FUS): c.684_686delCGG (p.Gly231del) deletion Likely benign GRCh38 Chromosome 16, 31185099: 31185101
39 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 31202742: 31202742
40 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 31191421: 31191421
41 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign GRCh37 Chromosome 16, 31195715: 31195720
42 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign GRCh38 Chromosome 16, 31184394: 31184399
43 FUS NM_004960.3(FUS): c.636C> T (p.Asp212=) single nucleotide variant Benign rs147528034 GRCh37 Chromosome 16, 31196372: 31196372
44 FUS NM_004960.3(FUS): c.636C> T (p.Asp212=) single nucleotide variant Benign rs147528034 GRCh38 Chromosome 16, 31185051: 31185051
45 FUS NM_004960.3(FUS): c.1171C> G (p.Pro391Ala) single nucleotide variant Uncertain significance rs560450437 GRCh38 Chromosome 16, 31190277: 31190277
46 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...

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