ALS3
MCID: AMY088
MIFTS: 35

Amyotrophic Lateral Sclerosis 3 (ALS3)

Categories: Genetic diseases, Mental diseases, Metabolic 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 56 12 52 13 71
Amyotrophic Lateral Sclerosis Type 3 12 52 15
Als3 56 12 52

Characteristics:

OMIM:

56
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:

31
amyotrophic lateral sclerosis 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060195
OMIM 56 606640
OMIM Phenotypic Series 56 PS105400
MedGen 41 C1847735
SNOMED-CT via HPO 68 249945007 263681008
UMLS 71 C1847735

Summaries for Amyotrophic Lateral Sclerosis 3

OMIM : 56 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 vulvovaginal candidiasis and oral candidiasis. An important gene associated with Amyotrophic Lateral Sclerosis 3 is ALS3 (Amyotrophic Lateral Sclerosis 3 (Autosomal Dominant)). The drugs Aluminum hydroxide and Agglutinins have been mentioned in the context of this disorder. Affiliated tissues include cortex, spinal cord and brain, 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

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22
Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 vulvovaginal candidiasis 30.5 SKAP2 CLEC7A CCR6
2 oral candidiasis 30.5 SKAP2 CLEC7A CCR6
3 denture stomatitis 30.1 GFM1 CLEC7A BCR ALLC
4 amyotrophic lateral sclerosis 1 25.7 ZNF569 ZNF470 TRIM21 SUGCT SQSTM1 SKAP2
5 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 12.9
6 candidiasis 10.4
7 amyotrophic lateral sclerosis 7 10.4 SUGCT ALS2
8 amyotrophic lateral sclerosis type 14 10.4 DUSP11 ALS2
9 mycobacterium abscessus 10.3 SQSTM1 CLEC7A
10 amyotrophic lateral sclerosis 4, juvenile 10.3 SUGCT ECE1 ALS2
11 toxic megacolon 10.3 CCR6 ALLC
12 cutaneous candidiasis 10.3 CLEC7A CCR6
13 neuroaspergillosis 10.3 TRIM21 CLEC7A
14 subcutaneous mycosis 10.3 CLEC7A CCR6
15 vulvovaginitis 10.3 CCR6 ALLC
16 blastomycosis 10.3 CLEC7A CCR6
17 hyper ige recurrent infection syndrome 1 10.2 CLEC7A CCR6
18 neonatal candidiasis 10.2 CLEC7A ALLC
19 cardiomyopathy, familial hypertrophic, 4 10.2 DUSP11 ALLC
20 chromoblastomycosis 10.2 CLEC7A CCR6
21 white piedra 10.2 RABAC1 IK
22 lateral sclerosis 10.2
23 dermatophytosis 10.2 CLEC7A CCR6
24 vaginal disease 10.2 SKAP2 CLEC7A CCR6
25 amyotrophic lateral sclerosis type 6 10.2 ZNF470 ALS2
26 amyotrophic lateral sclerosis 5, juvenile 10.1
27 vaginitis 10.1
28 stomatitis 10.1
29 candida glabrata 10.1
30 mucormycosis 10.1 CLEC7A CCR6
31 chronic rhinitis 10.1 IK ECE1
32 clostridium difficile colitis 10.1 CCR6 ALLC
33 coccidioidomycosis 10.1 CLEC7A CCR6
34 cryptococcosis 10.1 CLEC7A CCR6 ALLC
35 childhood type dermatomyositis 10.0 TRIM21 CCR6
36 primary systemic mycosis 10.0 CLEC7A CCR6
37 amyotrophic lateral sclerosis 9 10.0 ZNF470 GFM1 ECE1 ALS2
38 pick disease of brain 10.0
39 opportunistic mycosis 9.9 SKAP2 CLEC7A CCR6 ALLC
40 pneumocystosis 9.8 CLEC7A CCR6
41 amyotrophic lateral sclerosis type 5 9.6 ZNF470 SERTAD3 MED31 GFM1 ECE1 ALS2

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:

31
# Description HPO Frequency HPO Source Accession
1 bulbar signs 31 HP:0002483
2 lower limb muscle weakness 31 HP:0007340

Symptoms via clinical synopsis from OMIM:

56
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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
2 Agglutinins Phase 2
3 Immunoglobulins Phase 2
4 Antibodies Phase 2
5 Vaccines Phase 2
6 Immunologic Factors Phase 2
7
Aluminum sulfate Approved Phase 1 10043-01-3
8 Adjuvants, Immunologic Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2a Study to Evaluate the Safety, Tolerability, and Immunogenicity of One Dose of NDV-3A Vaccine in Patients With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
2 A Phase 2 Double-blind Placebo-controlled Study to Evaluate the Safety, Immunogenicity and Efficacy of NDV-3A Vaccine in Preventing S. Aureus Colonization Active, not recruiting NCT03455309 Phase 2
3 Phase 1b Partially-blind,Placebo-Controlled Study to Evaluate the Safety, Tolerability, and Immunogenicity of NDV-3, A Recombinant Alum Adjuvanted Vaccine for S. Aureus and Candida Infections, Administered Either Intramuscular (IM) or Intradermally (ID) to Healthy Adults Completed NCT01447407 Phase 1
4 Phase I Double-Blind, Placebo-Controlled Dose Escalation Study to Evaluate the Safety, Tolerability and Immunogenicity of NDV-3, a Recombinant Alum-Adjuvanted Vaccine for Staphylococcus Aureus and Candida Infections, Administered Intramuscular to Healthy Adults Completed NCT01273922 Phase 1

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:

40
Cortex, Spinal Cord, Brain, Colon, Heart, Endothelial

Publications for Amyotrophic Lateral Sclerosis 3

Articles related to Amyotrophic Lateral Sclerosis 3:

(show top 50) (show all 228)
# Title Authors PMID Year
1
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
2
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. 56
11706389 2002
3
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
4
Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice. 56
7889564 1995
5
Selection of potential anti-adhesion drugs by in silico approaches targeted to ALS3 from Candida albicans. 61
31659577 2019
6
Phenotypic and Cell Wall Proteomic Characterization of a DDR48 Mutant Candida albicans Strain. 61
31546294 2019
7
The Host Immune System Facilitates Disseminated Staphylococcus aureus Disease Due to Phagocytic Attraction to Candida albicans during Coinfection: a Case of Bait and Switch. 61
31451623 2019
8
A comparative analysis of protein virulence factors released via extracellular vesicles in two Candida albicans strains cultivated in a nutrient-limited medium. 61
31412284 2019
9
Zerumbone inhibits Candida albicans biofilm formation and hyphal growth. 61
31158320 2019
10
Global Transcriptomic Analysis of the Candida albicans Response to Treatment with a Novel Inhibitor of Filamentation. 61
31511371 2019
11
ADH1 promotes Candida albicans pathogenicity by stimulating oxidative phosphorylation. 61
31471070 2019
12
Under phosphate starvation conditions, Fe and Al trigger accumulation of the transcription factor STOP1 in the nucleus of Arabidopsis root cells. 61
31034704 2019
13
Analysis of Interacting Proteins of Aluminum Toxicity Response Factor ALS3 and CAD in Citrus. 61
31569546 2019
14
Strong-Weak Pruning for Brain Network Identification in Connectome-Wide Neuroimaging: Application to Amyotrophic Lateral Sclerosis Disease Stage Characterization. 61
30929575 2019
15
Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative. 61
31217043 2019
16
Carboxylesterase 2 and Intestine Transporters Contribute to the Low Bioavailability of Allisartan, a Prodrug of Exp3174 for Hypertension Treatment in Humans. 61
31076412 2019
17
Fluphenazine antagonizes with fluconazole but synergizes with amphotericin B in the treatment of candidiasis. 61
31201451 2019
18
The NDV-3A vaccine protects mice from multidrug resistant Candida auris infection. 61
31381597 2019
19
Contributions of Candida albicans Dimorphism, Adhesive Interactions, and Extracellular Matrix to the Formation of Dual-Species Biofilms with Streptococcus gordonii. 61
31213561 2019
20
Synergy Over Monotherapy. 61
30941538 2019
21
Activity of coumarin against Candida albicans biofilms. 61
30606640 2019
22
Susceptibility to Oral Antiseptics and Virulence Factors Ex Vivo Associated with Candida spp. Isolated from Dental Prostheses. 61
30768738 2019
23
Zinc Oxide Nanoparticles Inhibition of Initial Adhesion and ALS1 and ALS3 Gene Expression in Candida albicans Strains from Urinary Tract Infections. 61
30903582 2019
24
Molecular detection of ALS1, ALS3, HWP1 and SAP4 genes in Candida Genus isolated from hospitalized patients in Intensive Care Unit, Tehran, Iran. 61
31078147 2019
25
Adhesive protein-mediated cross-talk between Candida albicans and Porphyromonas gingivalis in dual species biofilm protects the anaerobic bacterium in unfavorable oxic environment. 61
30867500 2019
26
Blocking β-1,6-glucan synthesis by deleting KRE6 and SKN1 attenuates the virulence of Candida albicans. 61
30507002 2019
27
Characterization of the mechanism and impact of staphylokinase on the formation of Candida albicans and Staphylococcus aureus polymicrobial biofilms. 61
30628885 2019
28
Nicotine enhances the thickness of biofilm and adherence of Candida albicans ATCC 14053 and Candida parapsilosis ATCC 22019. 61
30476044 2019
29
Influence of Streptococcus mitis and Streptococcus sanguinis on virulence of Candida albicans: in vitro and in vivo studies. 61
30232727 2019
30
2-Alkyl-4-hydroxyquinolines from a Marine-Derived Streptomyces sp. Inhibit Hyphal Growth Induction in Candida albicans. 61
30813382 2019
31
Different Host Immunological Response to C. albicans by Human Oral and Vaginal Epithelial Cells. 61
30600418 2019
32
Mms21: A Putative SUMO E3 Ligase in Candida albicans That Negatively Regulates Invasiveness and Filamentation, and Is Required for the Genotoxic and Cellular Stress Response. 61
30530734 2019
33
Candida albicans biofilm development is governed by cooperative attachment and adhesion maintenance proteins. 61
31452924 2019
34
Effect of Shikonin Against Candida albicans Biofilms. 61
31156594 2019
35
[Mechanism of butyl alcohol extract of Baitouweng Decoction (BAEB) on Candida albicans biofilms based on pH signal pathway]. 61
30989957 2019
36
In Vitro Antifungal and Antivirulence Activities of Biologically Synthesized Ethanolic Extract of Propolis-Loaded PLGA Nanoparticles against Candida albicans. 61
31871479 2019
37
Genetic Dissection of Fe-Dependent Signaling in Root Developmental Responses to Phosphate Deficiency. 61
30420567 2019
38
[Inhibitory effect of extract of Coptidis Rhizoma on invasion of Candida albicans hyphae in vitro]. 61
30868823 2019
39
Tamm-Horsfall Protein Protects the Urinary Tract against Candida albicans. 61
30297523 2018
40
Two Genes Encoding a Bacterial-Type ATP-Binding Cassette Transporter are Implicated in Aluminum Tolerance in Buckwheat. 61
30124933 2018
41
Efficacy of 7-benzyloxyindole and other halogenated indoles to inhibit Candida albicans biofilm and hyphal formation. 61
29656577 2018
42
New N-(oxazolylmethyl)-thiazolidinedione Active against Candida albicans Biofilm: Potential Als Proteins Inhibitors. 61
30279343 2018
43
Photodynamic inactivation in the expression of the Candida albicans genes ALS3, HWP1, BCR1, TEC1, CPH1, and EFG1 in biofilms. 61
29589176 2018
44
Antigen I/II mediates interactions between Streptococcus mutans and Candida albicans. 61
29570954 2018
45
Culture Supernatants of Lactobacillus gasseri and L. crispatus Inhibit Candida albicans Biofilm Formation and Adhesion to HeLa Cells. 61
29603066 2018
46
Biofilm inhibition mechanism from extract of Hymenocallis littoralis leaves. 61
29698774 2018
47
Candida albicans White-Opaque Switching Influences Virulence but Not Mating during Oropharyngeal Candidiasis. 61
29581190 2018
48
Alternative Oxidase Promotes Biofilm Formation of Candida albicans. 61
30074210 2018
49
Community Development between Porphyromonas gingivalis and Candida albicans Mediated by InlJ and Als3. 61
29691333 2018
50
Coassociation between Group B Streptococcus and Candida albicans Promotes Interactions with Vaginal Epithelium. 61
29339458 2018

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

Cellular components related to Amyotrophic Lateral Sclerosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sperm midpiece GO:0097225 8.62 SQSTM1 CCR6

Sources for Amyotrophic Lateral Sclerosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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