MCID: AMY095
MIFTS: 32

Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia malady

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

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

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Aliases & Descriptions for Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 52 11 70
Amyotrophic Lateral Sclerosis Type 6 11 48 27 13
Als6 11 48 70
 
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 68
Autosomal Recessive Amyotrophic Lateral Sclerosis 6 11
Amyotrophic Lateral Sclerosis 6 68

Characteristics:

HPO:

64
amyotrophic lateral sclerosis 6, with or without frontotemporal dementia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 608030
Disease Ontology11 DOID:0060198
MeSH39 D000690

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

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UniProtKB/Swiss-Prot:70 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 type 6, is related to dementia, frontotemporal and amyotrophic lateral sclerosis 1, and has symptoms including hyporeflexia, gait disturbance and fasciculations. 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.

Disease Ontology:11 An amyotrophic lateral sclerosis that has material basis in mutation in the FUS gene on chromosome 16.

Description from OMIM:52 608030

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

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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...

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Clinical features from OMIM:

608030

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

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia64 HP:0001265
2 gait disturbance64 HP:0001288
3 fasciculations64 HP:0002380
4 neuronal loss in central nervous system64 HP:0002529
5 proximal amyotrophy64 HP:0007126
6 amyotrophic lateral sclerosis64 HP:0007354

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Amyotrophic Lateral Sclerosis and Frontotemporal DementiaTerminatedNCT00159198Phase 1

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

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

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Genetic tests related to Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 627

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

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

36
Brain, Spinal cord

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

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

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

70 (show all 18)
id Symbol AA change Variation ID SNP ID
1FUSp.Arg244CysVAR_054837
2FUSp.Arg514GlyVAR_054838
3FUSp.Arg514SerVAR_054839
4FUSp.Gly515CysVAR_054840
5FUSp.Arg518LysVAR_054842rs121909669
6FUSp.Arg521CysVAR_054843rs121909668
7FUSp.Arg521GlyVAR_054844rs121909668
8FUSp.Arg521HisVAR_054845rs121909671
9FUSp.Arg522GlyVAR_054846
10FUSp.Arg524SerVAR_054847
11FUSp.Arg524ThrVAR_054848
12FUSp.Pro525LeuVAR_054849
13FUSp.Gly191SerVAR_068918rs148758737
14FUSp.Arg216CysVAR_068919rs267606832
15FUSp.Gly225ValVAR_068920
16FUSp.Gly230CysVAR_068921rs748374535
17FUSp.Arg234CysVAR_068922rs777819849
18FUSp.Gly507AspVAR_068924rs267606831

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FUSNM_004960.3(FUS): c.1561C> G (p.Arg521Gly)SNVPathogenicrs121909668GRCh37Chr 16, 31202739: 31202739
2FUSNM_004960.3(FUS): c.1553G> A (p.Arg518Lys)SNVPathogenicrs121909669GRCh37Chr 16, 31202731: 31202731
3FUSNM_004960.3(FUS): c.1561C> T (p.Arg521Cys)SNVPathogenicrs121909668GRCh37Chr 16, 31202739: 31202739
4FUSNM_004960.3(FUS): c.1562G> A (p.Arg521His)SNVPathogenicrs121909671GRCh37Chr 16, 31202740: 31202740
5FUSNM_004960.3(FUS): c.1520G> A (p.Gly507Asp)SNVPathogenicrs267606831GRCh37Chr 16, 31202410: 31202410
6FUSNM_004960.3(FUS): c.646C> T (p.Arg216Cys)SNVPathogenicrs267606832GRCh37Chr 16, 31196382: 31196382
7FUSNM_004960.3(FUS): c.1570A> T (p.Arg524Trp)SNVPathogenicrs267606833GRCh37Chr 16, 31202748: 31202748
8FUSNM_004960.3(FUS): c.1483C> T (p.Arg495Ter)SNVPathogenicrs387906627GRCh37Chr 16, 31202373: 31202373
9FUSNM_004960.3(FUS): c.616G> A (p.Gly206Ser)SNVPathogenicrs387906628GRCh37Chr 16, 31196352: 31196352

Expression for genes affiliated with Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal...

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

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal...

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

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Cellular components related to Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:00304259.5ALS2, FUS, SPG11
2dendritic spineGO:00431979.5ALS2, FUS

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet