ALS3
MCID: AMY088
MIFTS: 28

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 57 12 53 13 73
Amyotrophic Lateral Sclerosis Type 3 12 53 15
Als3 57 12 53

Characteristics:

OMIM:

57
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:

32
amyotrophic lateral sclerosis 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606640
Disease Ontology 12 DOID:0060195
MedGen 42 C1847735
SNOMED-CT via HPO 69 263681008 249945007
UMLS 73 C1847735

Summaries for Amyotrophic Lateral Sclerosis 3

OMIM : 57 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). (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 and cortex, 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 11)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 1 29.7 ALS2 ALS3 BCR ECE1 GFM1 PLB1
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 12.7
3 perrault syndrome 1 11.1
4 candidiasis 10.1
5 vulvovaginal candidiasis 10.1
6 candida glabrata 10.1
7 denture stomatitis 9.9 BCR GFM1
8 amyotrophic lateral sclerosis 4, juvenile 9.9 ALS2 SUGCT
9 amyotrophic lateral sclerosis 7 9.8 ALS2 BCR GFM1
10 amyotrophic lateral sclerosis 9 9.8 ALS2 BCR GFM1
11 opportunistic mycosis 9.6 PLB1 SUGCT

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Amyotrophic Lateral Sclerosis 3:

32
# Description HPO Frequency HPO Source Accession
1 bulbar signs 32 HP:0002483
2 lower limb muscle weakness 32 HP:0007340

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 Anti-Ulcer Agents Phase 2,Phase 1
5 Antacids Phase 2,Phase 1
6 Immunologic Factors Phase 2,Phase 1
7 Adjuvants, Immunologic Phase 2,Phase 1
8 Agglutinins Phase 2
9 Antibodies Phase 2
10 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of NDV-3A Vaccine in Preventing S. Aureus Colonization 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:

41
Spinal Cord, Cortex

Publications for Amyotrophic Lateral Sclerosis 3

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 regulation of Rho protein signal transduction GO:0035023 9.26 ALS2 BCR
2 protein localization GO:0008104 9.16 ALS2 SQSTM1
3 endosomal transport GO:0016197 8.96 ALS2 SQSTM1
4 endosome organization GO:0007032 8.62 ALS2 SQSTM1

Molecular functions related to Amyotrophic Lateral Sclerosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rho guanyl-nucleotide exchange factor activity GO:0005089 8.62 ALS2 BCR

Sources for Amyotrophic Lateral Sclerosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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