ALS3
MCID: AMY088
MIFTS: 36

Amyotrophic Lateral Sclerosis 3 (ALS3)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 3

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 3:

Name: Amyotrophic Lateral Sclerosis 3 58 12 54 13 74
Amyotrophic Lateral Sclerosis Type 3 12 54 15
Als3 58 12 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 45 years of age
mean duration 5 years
based on a report of 1 large european family (last curated january 2002)


HPO:

33
amyotrophic lateral sclerosis 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060195
OMIM 58 606640
MedGen 43 C1847735
SNOMED-CT via HPO 70 249945007 263681008
UMLS 74 C1847735

Summaries for Amyotrophic Lateral Sclerosis 3

OMIM : 58 ALS is a degenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure usually within 3 to 5 years of symptom onset (Brown, 1995). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). (606640)

MalaCards based summary : Amyotrophic Lateral Sclerosis 3, also known as amyotrophic lateral sclerosis type 3, is related to amyotrophic lateral sclerosis 1 and frontotemporal dementia and/or amyotrophic lateral sclerosis 3. An important gene associated with Amyotrophic Lateral Sclerosis 3 is ALS3 (Amyotrophic Lateral Sclerosis 3 (Autosomal Dominant)). The drugs Aluminum hydroxide and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, cortex and colon, and related phenotypes are bulbar signs and lower limb muscle weakness

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in loci on chromosome 18.

Related Diseases for Amyotrophic Lateral Sclerosis 3

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 3:



Diseases related to Amyotrophic Lateral Sclerosis 3

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 3

Human phenotypes related to Amyotrophic Lateral Sclerosis 3:

33
# Description HPO Frequency HPO Source Accession
1 bulbar signs 33 HP:0002483
2 lower limb muscle weakness 33 HP:0007340

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
no dementia
bulbar dysfunction
progressive weakness of upper and lower limbs
upper and lower motor neuron signs
diffuse denervation seen of emg
more

Clinical features from OMIM:

606640

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 3

Drugs for Amyotrophic Lateral Sclerosis 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 2,Phase 1 21645-51-2
2 Vaccines Phase 2,Phase 1
3 Gastrointestinal Agents Phase 2,Phase 1
4 Antacids Phase 2,Phase 1
5 Anti-Ulcer Agents Phase 2,Phase 1
6 Adjuvants, Immunologic Phase 2,Phase 1
7 Immunologic Factors Phase 2,Phase 1
8 Immunoglobulins Phase 2
9 Antibodies Phase 2
10 Agglutinins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of NDV-3A Vaccine in Preventing S. Aureus Colonization Active, not recruiting NCT03455309 Phase 2
2 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 Safety, Tolerability, Immunogenicity and Efficacy of NDV-3A Vaccine in Preventing Recurrent Vulvovaginal Candidiasis Completed NCT01926028 Phase 1, Phase 2

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 3

Genetic Tests for Amyotrophic Lateral Sclerosis 3

Anatomical Context for Amyotrophic Lateral Sclerosis 3

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 3:

42
Spinal Cord, Cortex, Colon

Publications for Amyotrophic Lateral Sclerosis 3

Articles related to Amyotrophic Lateral Sclerosis 3:

(show all 29)
# Title Authors Year
1
Zinc Oxide Nanoparticles Inhibition of Initial Adhesion and ALS1 and ALS3 Gene Expression in Candida albicans Strains from Urinary Tract Infections. ( 30903582 )
2019
2
Molecular detection of ALS1, ALS3, HWP1 and SAP4 genes in Candida Genus isolated from hospitalized patients in Intensive Care Unit, Tehran, Iran. ( 31078147 )
2019
3
Photodynamic inactivation in the expression of the Candida albicans genes ALS3, HWP1, BCR1, TEC1, CPH1, and EFG1 in biofilms. ( 29589176 )
2018
4
Community Development between Porphyromonas gingivalis and Candida albicans Mediated by InlJ and Als3. ( 29691333 )
2018
5
ALS1 and ALS3 gene expression and biofilm formation in Candida albicans isolated from vulvovaginal candidiasis. ( 27376044 )
2016
6
Als1 and Als3 regulate the intracellular uptake of copper ions when Candida albicans biofilms are exposed to metallic copper surfaces. ( 27189057 )
2016
7
Functional regions of Candida albicans hyphal cell wall protein Als3 that determine interaction with the oral bacterium Streptococcus gordonii. ( 25332379 )
2015
8
The rice ALS3 encoding a novel pentatricopeptide repeat protein is required for chloroplast development and seedling growth. ( 25859292 )
2015
9
The peptide-binding cavity is essential for Als3-mediated adhesion of Candida albicans to human cells. ( 24802757 )
2014
10
A proposed mechanism for the interaction between the Candida albicans Als3 adhesin and streptococcal cell wall proteins. ( 25408685 )
2014
11
Candida species biofilm and Candida albicans ALS3 polymorphisms in clinical isolates. ( 25763043 )
2014
12
Investigation of the function of Candida albicans Als3 by heterologous expression in Candida glabrata. ( 23630968 )
2013
13
Hyphae-specific genes HGC1, ALS3, HWP1, and ECE1 and relevant signaling pathways in Candida albicans. ( 24002103 )
2013
14
Down-regulation of the ALS3 gene as a consequent effect of RNA-mediated silencing of the EFG1 gene in Candida albicans. ( 23183615 )
2012
15
Susceptibility to caspofungin and fluconazole and Als1/Als3 gene expression in biofilm and dispersal cells of Candida albicans. ( 23334045 )
2012
16
Candida albicans Als3, a multifunctional adhesin and invasin. ( 21115738 )
2011
17
Interaction of Candida albicans cell wall Als3 protein with Streptococcus gordonii SspB adhesin promotes development of mixed-species communities. ( 20805332 )
2010
18
Monitoring ALS1 and ALS3 gene expression during in vitro Candida albicans biofilm formation under continuous flow conditions. ( 18683080 )
2009
19
Recognition of Candida albicans Als3 by the germ tube-specific monoclonal antibody 3D9.3. ( 19291169 )
2009
20
Monoclonal antibodies specific for Candida albicans Als3 that immunolabel fungal cells in vitro and in vivo and block adhesion to host surfaces. ( 19427882 )
2009
21
the hyphal-associated adhesin and invasin Als3 of Candida albicans mediates iron acquisition from host ferritin. ( 19023418 )
2008
22
Als3 is a Candida albicans invasin that binds to cadherins and induces endocytosis by host cells. ( 17311474 )
2007
23
Fungicidal monoclonal antibody C7 binds to Candida albicans Als3. ( 17452471 )
2007
24
Identification of dominant mutations that confer increased aluminium tolerance through mutagenesis of the Al-sensitive Arabidopsis mutant, als3-1. ( 16488918 )
2006
25
ALS3 encodes a phloem-localized ABC transporter-like protein that is required for aluminum tolerance in Arabidopsis. ( 15659095 )
2005
26
Functional specificity of Candida albicans Als3p proteins and clade specificity of ALS3 alleles discriminated by the number of copies of the tandem repeat sequence in the central domain. ( 15758214 )
2005
27
ALS3 and ALS8 represent a single locus that encodes a Candida albicans adhesin; functional comparisons between Als3p and Als1p. ( 15256583 )
2004
28
Candida albicans ALS3 and insights into the nature of the ALS gene family. ( 9644209 )
1998
29
Al Inhibits Both Shoot Development and Root Growth in als3, an Al-Sensitive Arabidopsis Mutant. ( 12223767 )
1997

Variations for Amyotrophic Lateral Sclerosis 3

Expression for Amyotrophic Lateral Sclerosis 3

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 3.

Pathways for Amyotrophic Lateral Sclerosis 3

GO Terms for Amyotrophic Lateral Sclerosis 3

Biological processes related to Amyotrophic Lateral Sclerosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization GO:0008104 9.16 ALS2 SQSTM1
2 endosomal transport GO:0016197 8.96 ALS2 SQSTM1
3 endosome organization GO:0007032 8.62 ALS2 SQSTM1

Sources for Amyotrophic Lateral Sclerosis 3

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
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